{"id":18136,"date":"2021-10-15T10:17:24","date_gmt":"2021-10-15T01:17:24","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=18136"},"modified":"2025-08-11T14:19:22","modified_gmt":"2025-08-11T05:19:22","slug":"1q21-1-microduplications","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/","title":{"rendered":"1q21.1 \u90e8\u5206\u91cd\u8907"},"content":{"rendered":"\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span 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ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/#%E7%A7%BB%E5%8B%95%E8%83%BD%E5%8A%9B\" >\u79fb\u52d5\u80fd\u529b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/#%E3%81%AA%E3%81%9C%E3%80%811q211%E3%81%AE%E9%83%A8%E5%88%86%E9%87%8D%E8%A4%87%E3%82%92%E3%82%82%E3%81%A4%E4%BA%BA%E3%80%85%E3%81%AF%E4%BA%92%E3%81%84%E3%81%AB%E3%81%9D%E3%82%8C%E3%81%BB%E3%81%A9%E7%95%B0%E3%81%AA%E3%81%A3%E3%81%A6%E3%81%84%E3%82%8B%E3%81%AE%E3%81%A0%E3%82%8D%E3%81%86%E3%81%8B%E3%80%82\" >\u306a\u305c\u30011q21.1\u306e\u90e8\u5206\u91cd\u8907\u3092\u3082\u3064\u4eba\u3005\u306f\u4e92\u3044\u306b\u305d\u308c\u307b\u3069\u7570\u306a\u3063\u3066\u3044\u308b\u306e\u3060\u308d\u3046\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/#1q211%E3%81%AE%E9%83%A8%E5%88%86%E9%87%8D%E8%A4%87%E3%82%92%E6%9C%89%E3%81%99%E3%82%8B%E5%AE%B6%E7%B3%BB%E3%81%AE1%E4%BA%BA%E3%81%8C%E8%BB%BD%E5%BA%A6%E3%81%AE%E7%BD%B9%E6%82%A3%E3%81%A7%E3%81%82%E3%82%8B%E5%A0%B4%E5%90%88%E3%80%81%E5%90%8C%E3%81%98%E5%AE%B6%E7%B3%BB%E3%81%AE%E4%BB%96%E3%81%AE%E4%BA%BA%E3%82%82%E8%BB%BD%E5%BA%A6%E3%81%AE%E7%BD%B9%E6%82%A3%E3%81%A7%E3%81%82%E3%82%8D%E3%81%86%E3%81%8B\" >1q21.1\u306e\u90e8\u5206\u91cd\u8907\u3092\u6709\u3059\u308b\u5bb6\u7cfb\u306e1\u4eba\u304c\u8efd\u5ea6\u306e\u7f79\u60a3\u3067\u3042\u308b\u5834\u5408\u3001\u540c\u3058\u5bb6\u7cfb\u306e\u4ed6\u306e\u4eba\u3082\u8efd\u5ea6\u306e\u7f79\u60a3\u3067\u3042\u308d\u3046\u304b?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/#%E5%86%8D%E3%81%B3%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B\" >\u518d\u3073\u8d77\u3053\u308a\u307e\u3059\u304b?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/#1q211%E3%81%AE%E9%83%A8%E5%88%86%E9%87%8D%E8%A4%87%E3%82%92%E3%82%82%E3%81%A4%E7%A7%81%E3%81%AE%E5%AD%90%E4%BE%9B%E3%81%AF%E3%80%81%E5%90%8C%E3%81%98%E3%82%88%E3%81%86%E3%81%AB%E7%BD%B9%E6%82%A3%E3%81%97%E3%81%9F%E5%AD%90%E4%BE%9B%E3%81%A7%E3%81%99%E3%81%8B\" >1q21.1\u306e\u90e8\u5206\u91cd\u8907\u3092\u3082\u3064\u79c1\u306e\u5b50\u4f9b\u306f\u3001\u540c\u3058\u3088\u3046\u306b\u7f79\u60a3\u3057\u305f\u5b50\u4f9b\u3067\u3059\u304b?<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/#1q211%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E4%B8%80%E9%83%A8\" >1q21.1\u306e\u907a\u4f1d\u5b50\u306e\u4e00\u90e8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/#%E6%94%AF%E6%8F%B4%E3%81%A8%E6%83%85%E5%A0%B1\" >\u652f\u63f4\u3068\u60c5\u5831<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E5%85%B8%E3%81%A8%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u51fa\u5178\u3068\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u30ac\u30a4\u30c9\u306e\u60c5\u5831\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u3092\u3082\u3064\u7d0450\u4eba\u306e\u4eba\u3005\u304c\u77e5\u3063\u3066\u3044\u308b\u3053\u3068\u304b\u3089\u5f15\u304d\u51fa\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br>PubMed (www.ncbi) \u3067\u306f\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u4e0a\u306e\u6284\u9332\u3084\u539f\u8457\u8ad6\u6587\u3092\u691c\u7d22\u3067\u304d\u308b\u3088\u3046\u306b\u3001\u6700\u521d\u306e\u8457\u8005\u540d\u3068\u767a\u884c\u65e5\u304c\u4e0e\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 nlm.nih.gov\/ pubmed). \u5e0c\u671b\u304c\u3042\u308c\u3070\u3001Unique\u304b\u3089\u8ad6\u6587\u3092\u5165\u624b\u3067\u304d\u307e\u3059\u3002<br>\u3053\u306e\u30ea\u30fc\u30d5\u30ec\u30c3\u30c8\u306f\u307e\u305f\u3001\u30e6\u30cb\u30fc\u30af\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9(\u30d6\u30eb\u30cd\u30c3\u30c6\u30a3\u30d4\u30a8\u30ea2008)\u3092\u5229\u7528\u3057\u3066\u3044\u308b\u3002<br>\u30e1\u30d5\u30a9\u30fc\u30c92008\u3001Aldinger 2009\u3001\u30d6\u30eb\u30cd\u30fc\u30c82009\u3001\u30b0\u30ea\u30fc\u30f3\u30a6\u30a7\u30a42009\u3001Stanciewicz 2010\u3001Unique<\/p>\n<\/div><\/div>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u91cd\u8907<\/a>\u306f\u975e\u5e38\u306b\u307e\u308c\u306a\u907a\u4f1d\u7684\u72b6\u614b\u3067\u3001\u4f53\u306e\u7d30\u80de\u5185\u306b1\u672c\u306e\u67d3\u8272\u4f53\u306e\u5c0f\u3055\u306a\u4f59\u5206\u306a\u65ad\u7247\u304c\u8a8d\u3081\u3089\u308c\u308b\u3002 \u5c0f\u3055\u306a\u4f59\u5206\u306e\u30d3\u30c3\u30c8\u306f\u3001\u5b66\u7fd2\u304a\u3088\u3073\u767a\u9054\u306e\u56f0\u96e3\u306e\u30ea\u30b9\u30af\u3092\u5897\u52a0\u3055\u305b\u308b\u3002 \u3057\u304b\u3057\u3001\u500b\u4eba\u5dee\u306f\u5927\u304d\u3044\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u91cd\u8907<\/a>\u306e\u3042\u308b\u4eba\u306f\u3001\u75c7\u72b6\u306e\u306a\u3044\u4eba\u304b\u3089\u767a\u9054\u9045\u6ede\u3084\u5065\u5eb7\u554f\u984c\u306e\u3042\u308b\u4eba\u307e\u3067\u3055\u307e\u3056\u307e\u3067\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n    <a href=\"\/nipt\/nipt\/partialdeletions\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u90e8\u5206\u6b20\u5931\u91cd\u8907\u306e\u691c\u67fb <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u306f\u3001\u59d4\u8a17\u3059\u308b\u6771\u4eac\u885b\u751f\u691c\u67fb\u6240\u3067\u3001\u90e8\u5206\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3082\u691c\u67fb\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3053\u3068\u306b\u4f34\u3044\u3001\u598a\u5a20\u304c\u5224\u660e\u3057\u305f\u65e9\u671f\u6bb5\u968e\u304b\u3089\u5168\u67d3\u8272\u4f53\u306e\u90e8...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E6%9F%93%E8%89%B2%E4%BD%93\"><\/span>\u907a\u4f1d\u5b50\u3068\u67d3\u8272\u4f53<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306f\u4f55\u5341\u5104\u3082\u306e\u7d30\u80de\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u307b\u3068\u3093\u3069\u306e\u7d30\u80de\u306b\u306f\u3001\u7d042\u4e07\u500b\u306e\u907a\u4f1d\u5b50\u304c\u7d44\u307f\u8fbc\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306f\u6307\u793a\u66f8\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3001\u79c1\u305f\u3061\u306e\u6210\u9577\u3084\u767a\u9054\u3001\u4f53\u306e\u50cd\u304d\u3092\u6307\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u907a\u4f1d\u5b50\u306f\u3001\u67d3\u8272\u4f53\u3068\u547c\u3070\u308c\u308b\u69cb\u9020\u4f53\u306b\u7d44\u307f\u8fbc\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u67d3\u8272\u4f53\u306f\u901a\u5e3846\u672c\u3042\u308a\u3001\u6bcd\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u306023\u672c\u3068\u7236\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u306023\u672c\u3067\u300123\u672c\u306e\u67d3\u8272\u4f53\u304c2\u7d44\u3042\u308a\u307e\u3059\u30022\u672c\u306e\u6027\u67d3\u8272\u4f53\uff08\u5973\u5150\u306fX\u304c2\u672c\u3001\u7537\u5150\u306fX\u3068Y\u304c1\u672c\uff09\u3092\u9664\u3044\u3066\u3001\u67d3\u8272\u4f53\u306b\u306f1\u304b\u308922\u307e\u3067\u306e\u756a\u53f7\u304c\u4ed8\u3044\u3066\u3044\u307e\u3059\u30021\u756a\u306f\u6700\u3082\u5927\u304d\u306a\u67d3\u8272\u4f53\u3067\u3059\u3002\u305d\u308c\u305e\u308c\u306e\u67d3\u8272\u4f53\u306b\u306f\u3001\u77ed\u8155\uff083\u30da\u30fc\u30b8\u76ee\u306e\u56f3\u3067\u306f\u5de6\u5074\uff09\u3068\u9577\u8155\uff08\u53f3\u5074\uff09\u304c\u3042\u308a\u3001\u77ed\u8155\u306f\u30d5\u30e9\u30f3\u30b9\u8a9e\u3067\u300c\u5c0f\u3055\u3044\u300d\u3092\u610f\u5473\u3059\u308bpetit\u304b\u3089p\u3068\u547c\u3070\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%931q%E3%82%92%E3%81%BF%E3%82%8B%E3%81%A8\"><\/span>\u67d3\u8272\u4f531q\u3092\u307f\u308b\u3068<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u306f\u8089\u773c\u3067\u306f\u898b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u304c\u3001\u67d3\u8272\u3057\u3066\u9855\u5fae\u93e1\u3067\u62e1\u5927\u3059\u308b\u3068\u3001\u305d\u308c\u305e\u308c\u306e\u67d3\u8272\u4f53\u306b\u306f\u660e\u6697\u306e\u5e2f\u306e\u7279\u5fb4\u7684\u306a\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308a\u307e\u3059\u30023\u30da\u30fc\u30b8\u306e\u56f3\u3092\u898b\u308b\u3068\u3001\u67d3\u8272\u4f53\u306e\u5e2f\u306f\u3001\u9577\u8155\u3068\u77ed\u8155\u306e\u63a5\u70b9\u304b\u3089\u5916\u5074\u306b\u5411\u304b\u3063\u3066\u756a\u53f7\u304c\u4ed8\u3051\u3089\u308c\u3066\u3044\u308b\u306e\u304c\u308f\u304b\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u3067\u306f\u3001\u30d0\u30f3\u30c9q21.1\u306e2\u7b87\u6240\u3067\u67d3\u8272\u4f53\u304c\u5207\u65ad\u3055\u308c\u3001\u305d\u306e\u9593\u306e\u308f\u305a\u304b\u306a\u91cf\u306e\u67d3\u8272\u4f53\u7269\u8cea\u304c\u7e70\u308a\u8fd4\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br>\u9855\u5fae\u93e1\u3067\u67d3\u8272\u4f53\u3092\u898b\u308b\u3068\u3001\u67d3\u8272\u4f53\u304c\u3069\u3053\u3067\u58ca\u308c\u3066\u3044\u308b\u304b\u304c\u308f\u304b\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5341\u5206\u306a\u5927\u304d\u3055\u306e\u4f59\u5206\u306a\u90e8\u5206\uff08\u91cd\u8907\uff09\u304c\u3042\u308c\u3070\u3001\u305d\u306e\u5927\u304d\u3055\u3092\u793a\u3059\u30d0\u30f3\u30c9\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u898b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<br>\u3057\u304b\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u306e\u5834\u5408\u3001\u4f59\u5206\u306a\u90e8\u5206\u306f\u975e\u5e38\u306b\u5c0f\u3055\u304f\u3001\u9ad8\u6027\u80fd\u306e\u9855\u5fae\u93e1\u3067\u3082\u898b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3002\u4f59\u5206\u306a\u90e8\u5206\u306f\u975e\u5e38\u306b\u5c0f\u3055\u304f\u3001\u9ad8\u6027\u80fd\u306e\u9855\u5fae\u93e1\u3067\u3082\u898b\u308b\u3053\u3068\u304c\u3067\u304d\u305a\u3001\u5206\u5b50\u30ec\u30d9\u30eb\u306eDNA\u6280\u8853\u306b\u3088\u3063\u3066\u306e\u307f\u7279\u5b9a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u6700\u3082\u4e00\u822c\u7684\u306a\u6280\u8853\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\uff08\u30a2\u30ec\u30a4CGH\uff09\u3068\u547c\u3070\u308c\u308b\u3082\u306e\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306f\u3001\u67d3\u8272\u4f53\u4e0a\u306e\u5fae\u91cf\u306eDNA\u306e\u5897\u6e1b\u3092\u793a\u3057\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3067\u306f\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u3084\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u304c\u30011\u56de\u30012\u56de\u30013\u56de\u3068\u5b58\u5728\u3057\u3066\u3044\u308b\u304b\u3001\u3042\u308b\u3044\u306f\u5168\u304f\u5b58\u5728\u3057\u3066\u3044\u306a\u3044\u304b\u3092\u793a\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u30e6\u30cb\u30fc\u30af\u793e\u3067\u306f\u3001\u30a2\u30ec\u30a4CGH\u306e\u30ac\u30a4\u30c9\u3092\u5225\u9014\u767a\u884c\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AD%A3%E5%B8%B8%E3%81%AA%E9%81%BA%E4%BC%9D%E7%9A%84%E5%A4%89%E7%95%B0%E3%81%8B\"><\/span>\u6b63\u5e38\u306a\u907a\u4f1d\u7684\u5909\u7570\u304b?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u91cd\u8907<\/a>\u306f\u3001\u67d3\u8272\u4f53\u691c\u67fb\u306b\u7d39\u4ecb\u3055\u308c\u305f\u30d2\u30c8\u3068\u540c\u69d8\u306b\u3001\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3044\u3066\u3082\u8a8d\u3081\u3089\u308c\u308b\u3002 \u5f53\u521d\u3001\u3053\u308c\u3089\u306f\u500b\u4f53\u9593\u306e\u6b63\u5e38\u306a\u907a\u4f1d\u7684\u5909\u7570\u306e\u4e00\u90e8\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u305f\u3002 \u3057\u304b\u3057\u306a\u304c\u3089\u3001\u3053\u308c\u3089\u306f\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u7d39\u4ecb\u3055\u308c\u305f\u4eba\u306b\u3088\u308a\u591a\u304f\u307f\u3089\u308c\u3001\u73fe\u5728\u3067\u306f\u69d8\u3005\u306a\u767a\u9054\u969c\u5bb3\u306b\u5bfe\u3059\u308b\u611f\u53d7\u6027\u3092\u9ad8\u3081\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1q211%E3%81%AE%E9%83%A8%E5%88%86%E9%87%8D%E8%A4%87_2%E3%81%A4%E3%81%AE%E3%82%B5%E3%82%A4%E3%82%BA\"><\/span>1q21.1\u306e\u90e8\u5206\u91cd\u8907:2\u3064\u306e\u30b5\u30a4\u30ba<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>1q21.1\u30de\u30a4\u30af\u30ed\u8907\u88fd\u306b\u306f2\u7a2e\u985e\u306e\u5927\u304d\u3055\u304c\u3042\u308b\u3002 \u5927\u304d\u3055\u306f100\u4e07\u5869\u57fa\u5bfe\u524d\u5f8c\u306b\u53ca\u3076\u3002 100\u4e07\u97f3\u306f\u305f\u304f\u3055\u3093\u805e\u3053\u3048\u307e\u3059\u304c\u3001\u5b9f\u969b\u306b\u306f\u5c0f\u3055\u3044\u306e\u3067\u3001\u9855\u5fae\u93e1\u3067\u306f\u898b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u305b\u3093\u3067\u3057\u305f\u3002 \u9855\u5fae\u93e1\u3067\u898b\u308b\u306b\u306f\u7d04500\u4e07\u5869\u57fa\u5bfe\u306e\u65ad\u7247\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002 \u5869\u57fa\u5bfe\u306fDNA\u4e2d\u306e\u5316\u5b66\u7269\u8cea\u3067\u3042\u308a\u3001\u306f\u3057\u3054\u72b6\u69cb\u9020\u306e\u300c\u6a2a\u6728\u300d\u306e\u672b\u7aef\u3092\u5f62\u6210\u3059\u308b\u3002 \u7b2c1\u67d3\u8272\u4f53\u306f\u7d042\u51044,700\u4e07\u5869\u57fa\u5bfe\u3067\u3042\u308b\u3002 \u30d0\u30f3\u30c91q21.1\u306f540\u4e07\u5869\u57fa\u5bfe\u3092\u542b\u3080\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"438\" height=\"550\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-a.png\" alt=\"\" class=\"wp-image-18137\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<p style=\"font-size:18px\">bp=1\u5869\u57fa\u5bfe<br>kb = 1,000\u5869\u57fa\u5bfe<br>Mb=100\u4e07\u5869\u57fa\u5bfe<\/p>\n<\/div>\n<\/div>\n<\/div><\/div>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u91cd\u8907<\/a>\u306f\u3001\u5178\u578b\u7684\u306b\u306f\u3001\u4e0b\u56f3\u306e146 Mb\u304b\u3089147.8Mb\u306e\u9593\u306b\u4f4d\u7f6e\u3059\u308b\u3002 \u3053\u306e\u7bc0\u306b\u306f\u5c11\u306a\u304f\u3068\u30829\u3064\u306e\u65e2\u77e5\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3055\u3089\u306b\u591a\u304f\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u308b\u3002 \u6570\u5b57\u306fa\u3067\u3042\u308b1Mb(\u77ed\u8155\u306e\u5148\u7aef)\u3068\u4f4d\u7f6e\u306e\u9593\u306e\u7b2c1\u67d3\u8272\u4f53\u4e0a\u306e\u4f4d\u7f6e \u672c\u30da\u30fc\u30b8\u4e0b\u90e8\u56f3249.25 Mb(\u30ed\u30f3\u30b0\u30a2\u30fc\u30e0\u306e\u5148\u7aef)(BrunettiPierri 2008; Mefford 2008)<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"1024\" height=\"458\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-b-1024x458.png\" alt=\"\" class=\"wp-image-18139\"\/><\/figure>\n\n\n\n<p>Nature Genetics Vol. 40 (12) p1469\u304b\u3089\u3001Ankita Patel\u535a\u58eb\u306e\u7a2e\u985e\u306e\u8a31\u53ef\u3092\u5f97\u3066\u7de8\u96c6\u3057\u3001\u305d\u306e\u5f8c\u66f4\u65b0\u3057\u305f\u56f3\u3002 \u3053\u306e\u56f3\u306e\u6570\u5b57\u306f\u3001\u30d2\u30c8\u30b2\u30ce\u30e0\u69cb\u7bc9\u726919(hg19\u3001\u8a73\u7d30\u306f4\u30da\u30fc\u30b8\u3092\u53c2\u7167)\u3092\u53c2\u7167\u3057\u3066\u3044\u308b\u3002 \u3042\u306a\u305f\u306e\u5b50\u4f9b\u306e\u5831\u544a\u306f\u3001\u7570\u306a\u308b\u30d2\u30c8\u30b2\u30ce\u30e0\u69cb\u7bc9\u3092\u6307\u3057\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002 \u3054\u81ea\u8eab\u307e\u305f\u306f\u907a\u4f1d\u5b66\u306e\u5c02\u9580\u5bb6\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<br>\u5831\u544a\u66f8\u306e\u7406\u89e3\u3092\u52a9\u3051\u308b\u3002<\/p>\n\n\n\n<p><strong>\u30b5\u30a4\u30ba2<\/strong>\u306f\u3001\u7d041.35~2Mb\u306e\u3088\u308a\u5927\u304d\u306a\u8907\u88fd\u3067\u3042\u308b\u3002 \u3053\u308c\u306b\u306f25\u306e\u65e2\u77e5\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u3002 \u3053\u306e\u91cd\u8907\u306f\u3001\u4e0b\u56f3(Brunetti-Pierri 2008; Mefford 2008)\u306e145.4Mb\u3068147.8Mb\u304b\u3089\u306e\u3082\u306e\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"923\" height=\"275\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-c.png\" alt=\"\" class=\"wp-image-18141\"\/><\/figure>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A2%E3%83%AC%E3%82%A4CGH%E3%83%AC%E3%83%9D%E3%83%BC%E3%83%88\"><\/span>\u30a2\u30ec\u30a4CGH\u30ec\u30dd\u30fc\u30c8<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u3092\u767a\u898b\u3057\u305f\u691c\u67fb\u5ba4\u304b\u3089\u306f\u3001\u901a\u5e38\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30ec\u30dd\u30fc\u30c8\u304c\u9001\u3089\u308c\u3066\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><strong>arr[hg19]1q21.1(146701190-147623589)x3<\/strong><\/h4>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u6280\u8853\u3092\u7528\u3044\u305f\u89e3\u6790<br>\u30d2\u30c8\u30b2\u30ce\u30e0\u30d3\u30eb\u30c919\u3002\u3053\u308c\u306f\u3001\u30d9\u30fc\u30b9\u30da\u30a2\u756a\u53f7\u304c\u53c2\u7167\u3059\u308b\u57fa\u6e96DNA\u914d\u5217\u3067\u3059\u3002146,701,190\uff08\u7d04146.7Mb\uff09\u304b\u3089147623589\uff08\u7d04147.6Mb\uff09\u306e\u9593\u306e\u5869\u57fa\u5bfe\u306f\u3001\u7e70\u308a\u8fd4\u3055\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u308b\u3002<br>1\u3064\u76ee\u306e\u9577\u3044\u6570\u5b57\u30682\u3064\u76ee\u306e\u9577\u3044\u6570\u5b57\u3092\u53d6\u308b\u3068\u3001922399\u306b\u306a\u308a\u307e\u3059\u3002x3\u306f\u3001\u3053\u308c\u3089\u306e\u5869\u57fa\u5bfe\u306e\u30b3\u30d4\u30fc\u304c3\u3064\u3042\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u3001\u901a\u5e38\u60f3\u5b9a\u3055\u308c\u308b2\u3064\uff081\u756a\u67d3\u8272\u4f53\u306b1\u3064\u305a\u3064\uff09\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">arr (RP11-337C18,RP11-533N14,RP11-102F23)x3<\/h4>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u6280\u8853\u3092\u7528\u3044\u305f\u89e3\u6790<br>1q21.1\u30d0\u30f3\u30c9\u306e\u4f4d\u7f6e\u304c\u308f\u304b\u3063\u3066\u3044\u308b3\u7a2e\u985e\u306e\u30de\u30fc\u30ab\u30fc\u304c\u7e70\u308a\u8fd4\u3055\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u305f<br>\u6642\u6298\u3001\u3053\u306e\u3088\u3046\u306a\u30ec\u30dd\u30fc\u30c8\u304c\u9001\u3089\u308c\u3066\u304f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u30ec\u30dd\u30fc\u30c8\u306f\u3042\u307e\u308a\u8a73\u7d30\u3067\u306f\u306a\u304f\u3001\u4f59\u5206\u306a\u90e8\u5206\u306e\u5927\u304d\u3055\u3082\u308f\u304b\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">46,XY,dup(1)(q21.1q21.1)<\/h4>\n\n\n\n<p>\u304a\u5b50\u3055\u3093\u306e\u7d30\u80de\u5185\u306e\u67d3\u8272\u4f53\u306e\u6570 2\u672c\u306e\u6027\u67d3\u8272\u4f53\u3002\u7537\u6027\u306fXY\u3001\u5973\u6027\u306fXX \u91cd\u8907\u3001\u307e\u305f\u306f\u4f59\u5206\u306a\u7269\u8cea\u304c\u3042\u308b \u91cd\u8907\u306f1\u756a\u67d3\u8272\u4f53\u304b\u3089\u306e\u3082\u306e \u67d3\u8272\u4f53\u306b\u306f2\u3064\u306e\u5207\u65ad\u70b9\u304c\u3042\u308a\u3001\u3069\u3061\u3089\u3082\u30d0\u30f3\u30c91q21.1\u3067\u3059\u3002\u3053\u306e2\u3064\u306e\u5206\u5c90\u70b9\u306e\u9593\u306b\u3042\u308b\u7269\u8cea\u304c\u7e70\u308a\u8fd4\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\"><div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AD%A3%E5%B8%B8%E3%81%AB%E7%99%BA%E9%81%94%E3%81%97%E3%80%81%E5%81%A5%E5%BA%B7%E3%80%81%E5%AD%A6%E7%BF%92%E3%80%81%E8%A1%8C%E5%8B%95%E3%81%AB%E5%95%8F%E9%A1%8C%E3%81%8C%E3%81%AA%E3%81%841q211%E3%81%AE%E9%83%A8%E5%88%86%E9%87%8D%E8%A4%87%E3%82%92%E6%9C%89%E3%81%99%E3%82%8B%E4%BA%BA%E3%81%AF%E3%81%84%E3%82%8B%E3%81%8B\"><\/span>\u6b63\u5e38\u306b\u767a\u9054\u3057\u3001\u5065\u5eb7\u3001\u5b66\u7fd2\u3001\u884c\u52d5\u306b\u554f\u984c\u304c\u306a\u30441q21.1\u306e\u90e8\u5206\u91cd\u8907\u3092\u6709\u3059\u308b\u4eba\u306f\u3044\u308b\u304b?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u306f\u3044\u3001\u3042\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u306f\u7121\u97f3\u306e\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3064\u5b50\u3069\u3082\u306e\u89aa\u306e\u4e2d\u306b\u306f\u3001\u540c\u3058<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3063\u3066\u3044\u3066\u3082\u3001\u660e\u3089\u304b\u306a\u7570\u5e38\u306a\u7279\u5fb4\u3084\u767a\u9054\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u306a\u3044\u4eba\u3082\u3044\u307e\u3059\u3002\u91cd\u8907\u3092\u6301\u3064\u4ed6\u306e\u89aa\u306e\u5146\u5019\u306f\u3001\u307b\u3068\u3093\u3069\u6c17\u3065\u304b\u306a\u3044\u307b\u3069\u5fae\u5999\u3067\u3059\u3002\u307e\u305f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3064\u5b50\u4f9b\u306e\u4e2d\u306b\u306f\u3001\u6b63\u5e38\u306b\u767a\u9054\u3059\u308b\u5b50\u4f9b\u3082\u3044\u307e\u3059\u3002<br>\u3053\u306e\u3088\u3046\u306a\u3044\u304f\u3064\u304b\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u907a\u4f1d\u5b50\u5909\u7570\u306e\u5f71\u97ff<\/a>\u306f\u3001\u307b\u3068\u3093\u3069\u6c17\u3065\u304b\u306a\u3044\u7a0b\u5ea6\u306e\u3082\u306e\u304b\u3089\u3001\u660e\u3089\u304b\u3067\u6df1\u523b\u306a\u3082\u306e\u307e\u3067\u69d8\u3005\u3067\u3059\u3002\u3053\u306e\u610f\u5473\u3067\u306f\u3001\u30a4\u30f3\u30d5\u30eb\u30a8\u30f3\u30b6\u306a\u3069\u306e\u611f\u67d3\u75c7\u306e\u3088\u3046\u306b\u3001\u8efd\u5ea6\u306e\u3082\u306e\u304b\u3089\u91cd\u5ea6\u306e\u3082\u306e\u307e\u3067\u3042\u308a\u307e\u3059\u3002\uff08Brunetti-Pierri 2008; Mefford 2008; Aldinger 2009; Stanciewicz 2010\uff09<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1q211%E3%81%AE%E9%83%A8%E5%88%86%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E3%81%82%E3%82%8B%E3%81%8B\"><\/span>1q21.1\u306e\u90e8\u5206\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3042\u308b\u304b?<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3044\u3044\u3048\u3001\u3042\u308a\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u306b\u95a2\u9023\u3059\u308b\u7279\u5fb4\u306f\u3001\u75c7\u5019\u7fa4\u3068\u547c\u3076\u306b\u306f\u3042\u307e\u308a\u306b\u3082\u591a\u69d8\u3067\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"652\" height=\"1000\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-d.jpg\" alt=\"\" class=\"wp-image-18143\"\/><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\">\n<p style=\"font-size:18px\">\u3088\u304f\u3042\u308b\u72b6\u6cc1\uff1a\u7236\u3068\u606f\u5b50\u306e\u4e21\u65b9\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u91cd\u8907<\/a>\u304c\u3042\u308b\u3002\u3057\u304b\u3057\u3001\u7236\u89aa\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u304c\u898b\u3064\u304b\u3063\u305f\u306e\u306f\u3001\u606f\u5b50\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u304c\u898b\u3064\u304b\u3063\u305f\u5f8c\u3067\u3042\u308b<\/p>\n<\/div>\n<\/div>\n<\/div><\/div>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%80%E3%82%82%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AE%E9%AB%98%E3%81%84%E7%89%B9%E5%BE%B4\"><\/span>\u6700\u3082\u53ef\u80fd\u6027\u306e\u9ad8\u3044\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u2981 \u6bd4\u8f03\u7684\u5927\u304d\u306a\u982d\u90e8<br>\u2981 \u8efd\u5ea6\u307e\u305f\u306f\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u306e\u53ef\u80fd\u6027\u306e\u5897\u52a0<br>\u2981 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u69d8\u884c\u52d5\u306e\u53ef\u80fd\u6027\u306e\u5897\u52a0<br>\u2981 \u5c11\u3057\u5909\u308f\u3063\u305f\u9854\u3064\u304d<br>\u2981 \u5fc3\u81d3\u969c\u5bb3<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>\u305d\u306e\u4ed6\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u2981 \u767a\u4f5c<br>\u2981 \u4ed6\u306e\u5148\u5929\u7570\u5e38\u306e\u30ea\u30b9\u30af\u5897\u52a0<\/p>\n<\/div><\/div>\n\n\n\n    <a href=\"\/nipt\/nipt\/nipt\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u77e5\u7684\u969c\u304c\u3044\u304c\u308f\u304b\u308bNIPT\u3068\u306f\uff08NIPT\u306e\u57fa\u672c\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3067\u884c\u3063\u3066\u3044\u308bNIPT\u306e\u307e\u3068\u3081\u3067\u3059\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306eNIPT\u3067\u306f\u77e5\u7684\u969c\u5bb3\u30fb\u767a\u9054\u969c\u5bb3\u3092\u4f34\u3046\u591a\u6570\u306e\u75be\u60a3\u3092\u51fa\u751f\u524d\u306b\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%80%E3%82%82%E5%8F%AF%E8%83%BD%E6%80%A7%E3%81%AE%E9%AB%98%E3%81%84%E7%89%B9%E5%BE%B4-2\"><\/span>\u6700\u3082\u53ef\u80fd\u6027\u306e\u9ad8\u3044\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h4 class=\"wp-block-heading\">\u6bd4\u8f03\u7684\u5927\u304d\u306a\u982d\u90e8<\/h4>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"320\" height=\"240\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-e.jpg\" alt=\"\" class=\"wp-image-18145\"\/><figcaption class=\"wp-element-caption\">14\u304b\u6708\u9f62<\/figcaption><\/figure><\/div>\n\n\n<p>\u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u8d77\u3053\u3057\u305f\u4eba\u306e\u7d04\u534a\u6570\u4ee5\u4e0a\u306f\u3001\u4f53\u306b\u6bd4\u3079\u3066\u982d\u90e8\u304c\u5927\u304d\u304f\u3001\u982d\u90e8\u304c\u5927\u304d\u3044\u3053\u3068\u304c\u8907\u6570\u306e\u7814\u7a76\u304b\u3089\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br>\u3053\u306e\u3053\u3068\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u304c\u8133\u306e\u6210\u9577\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u308b\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1\u756a\u67d3\u8272\u4f53\u306e\u3053\u306e\u90e8\u5206\u304c\u6b20\u5931\u3057\u3066\u3044\u308b(\u90e8\u5206\u6b20\u5931)<\/a>\u4eba\u306e\u982d\u90e8\u306f\u975e\u5e38\u306b\u5c0f\u3055\u304f\u3001\u3053\u306e\u3053\u3068\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u6b20\u5931\u307e\u305f\u306f\u91cd\u8907\u3057\u305f\u90e8\u5206\u306e\u907a\u4f1d\u5b50<\/a>\u304c\u982d\u90e8\u306e\u6210\u9577\u306b\u5f71\u97ff\u3059\u308b\u3068\u3044\u3046\u8003\u3048\u3092\u652f\u6301\u3057\u3066\u3044\u308b\u3002 \u982d\u90e8\u306e\u6210\u9577\u3092\u6c7a\u5b9a\u3059\u308b\u306e\u306b\u91cd\u8981\u3068\u601d\u308f\u308c\u308b\u907a\u4f1d\u5b50(19\u30da\u30fc\u30b8\u306e1q21.1\u306e\u3044\u304f\u3064\u304b\u306e\u907a\u4f1d\u5b50\u3092\u53c2\u7167)\u304c\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u5c0f\u3055\u306a\u982d\u90e8\u3068\u7cbe\u795e\u4fdd\u5065\u554f\u984c\u3001\u7279\u306b\u7d71\u5408\u5931\u8abf\u75c7\u3068\u306e\u9593\u306b\u95a2\u9023\u6027\u304c\u3042\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u304c\u3001\u5927\u304d\u306a\u982d\u90e8\u3092\u6709\u3059\u308b\u4eba(Brunetti-Pierri 2008; Mefford 2008; Aldinger 2009)\u3067\u306f\u3001\u3053\u306e\u3088\u3046\u306a\u95a2\u9023\u6027\u306f\u793a\u5506\u3055\u308c\u3066\u3044\u306a\u3044\u3002<br>\u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u3082\u3064\u30e6\u30cb\u30fc\u30af\u306a\u30e1\u30f3\u30d0\u30fc\u306e\u4e2d\u3067\u3001\u30d8\u30c3\u30c9\u30b5\u30a4\u30ba\u306f\u53ef\u5909\u3067\u3042\u308b\u3002 9\u4eba\u306e\u30e1\u30f3\u30d0\u30fc\u306e\u3046\u30614\u4eba\u306f\u3001\u5927\u304d\u306a\u982d\u90e8\u307e\u305f\u306f\u6bd4\u8f03\u7684\u5927\u304d\u306a\u982d\u90e8\u3092\u6709\u3059\u308b\u3002 \u982d\u84cb\u9aa8\u304c\u3059\u3067\u306b\u7652\u5408\u3057\u305f(\u982d\u84cb\u9aa8\u7652\u5408\u75c7)2\u540d\u306e\u72ec\u7279\u306a\u30e1\u30f3\u30d0\u30fc\u304c\u751f\u307e\u308c\u305f\u3002 \u624b\u8853\u3068\u518d\u5f62\u6210\u304c\u6210\u529f\u3057\u305f\u5f8c\u3001\u982d\u90e8\u6210\u9577\u306f\u4e21\u75c7\u4f8b\u3067\u5e73\u5747\u7684\u3067\u3042\u3063\u305f\u3002 \u3069\u3061\u3089\u306e\u5b50\u4f9b\u3082\u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u8d77\u3053\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p><q>\u79c1\u306f\u30d0\u30a4\u30af\u306b\u4e57\u308b\u306e\u3067\u3001\u3044\u3064\u3082\u4e00\u756a\u5927\u304d\u306a\u30d8\u30eb\u30e1\u30c3\u30c8\u304c\u5fc5\u8981\u3067\u3059\u3002<\/q><br><q><em> &#8211; 1q21.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3064\u6210\u4eba<\/em><\/q><\/p>\n<\/blockquote>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p><\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h4 class=\"wp-block-heading\">\u8133<\/h4>\n\n\n\n<p>\u533b\u5b66\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u305f27\u4f8b\u306e\u3046\u3061\u30013\u4f8b\u306b\u69cb\u9020\u7684\u8133\u5947\u5f62\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002 \u8133\u306e\u4e21\u5074\u3092\u7d50\u3076\u795e\u7d4c\u7dda\u7dad\u5e2f\u304c\u8584\u304f(\u8133\u6881\u5f62\u6210\u4e0d\u5168)\u3001\u5c0f\u8133\u306e\u4e21\u5074\u306e\u9593\u306b\u7d30\u3044\u866b\u5f62\u306e\u69cb\u9020\u3092\u3057\u3066\u3044\u305f1\u4f8b\u3067\u306f\u3001\u904b\u52d5\u3068\u5354\u8abf(\u5c0f\u8133\u866b\u90e8)\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3059\u8133\u306e\u80cc\u90e8\u3068\u5e95\u90e8\u306e\u9818\u57df\u3082\u767a\u9054\u3057\u3066\u3044\u306a\u304b\u3063\u305f\u3002 1\u4eba\u306f\u8133\u306e\u5c0f\u8133\u90e8\u5206\u304c\u810a\u67f1\u7ba1\u306b\u7a81\u51fa\u3057\u3066\u3044\u305f(\u30ad\u30a2\u30ea\u5947\u5f62)\u3002 1\u4f8b\u306f\u8133\u5185\u306b\u6db2\u4f53(\u6c34\u982d\u75c7)\u304c\u84c4\u7a4d\u3057\u3066\u3044\u305f(Brunetti-Pierri 2008; Mefford 2008)\u3002 \u56fa\u6709\u306e\u30e1\u30f3\u30d0\u30fc\u306f\u8133\u69cb\u9020\u306e\u7570\u5e38\u3092\u5831\u544a\u3057\u306a\u304b\u3063\u305f(\u56fa\u6709)\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h4 class=\"wp-block-heading\">\u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u5b66\u7fd2\u56f0\u96e3\u306e\u30ea\u30b9\u30af\u5897\u52a0<\/h4>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u91cd\u8907<\/a>\u3092\u3082\u3064\u5b50\u4f9b\u306e\u4e2d\u306b\u306f\u3001\u6b63\u5e38\u306a\u901f\u5ea6\u3067\u767a\u9054\u3057\u3001\u5b66\u8853\u7684\u306b\u3046\u307e\u304f\u5bfe\u51e6\u3057\u3001\u671f\u5f85\u901a\u308a\u306b\u793e\u4f1a\u3067\u306e\u5f79\u5272\u3092\u679c\u305f\u3059\u6210\u4eba\u306b\u6210\u9577\u3059\u308b\u5b50\u4f9b\u3082\u3044\u307e\u3059\u3002 \u307e\u305f\u3001\u767a\u9054\u306e\u7bc0\u76ee\u306b\u9054\u3059\u308b\u306e\u304c\u9045\u304f\u3001\u5b66\u6821\u3067\u8ffd\u52a0\u7684\u306a\u63f4\u52a9\u3092\u5fc5\u8981\u3068\u3057\u3001\u7279\u5225\u306a\u5b66\u6821\u6559\u80b2\u3092\u5fc5\u8981\u3068\u3059\u308b\u4eba\u3082\u3044\u307e\u3059\u3002 \u3053\u308c\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u306e\u3042\u308b\u8d64\u3061\u3083\u3093\u3084\u5b50\u4f9b\u304c\u9045\u308c\u306a\u3044\u3088\u3046\u306b\u6ce8\u610f\u6df1\u304f\u76e3\u8996\u3057\u3001\u8ffd\u52a0\u306e\u63f4\u52a9\u3068\u6cbb\u7642\u3092\u8fc5\u901f\u306b\u63d0\u4f9b\u3059\u3079\u304d\u3067\u3042\u308b\u3053\u3068\u3092\u610f\u5473\u3059\u308b\u3002<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u304c\u3042\u308b\u304b\u3089\u3068\u3044\u3063\u3066\u3001\u8efd\u5ea6\u306e\u9045\u5ef6\u3084\u9855\u8457\u306a\u9045\u5ef6\u3001\u5b66\u7fd2\u56f0\u96e3\u306a\u3069\u3092\u4e88\u6e2c\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u306a\u3044\u3002 \u3053\u306e\u30b9\u30da\u30af\u30c8\u30eb\u306b\u306f\u3001\u76ee\u7acb\u3063\u305f\u554f\u984c\u304c\u306a\u3044\u4eba\u3084\u3001\u6df1\u523b\u306a\u5f71\u97ff\u3092\u53d7\u3051\u3066\u3044\u308b\u4eba\u3082\u542b\u307e\u308c\u307e\u3059\u3002 \u7814\u7a76\u8005\u3089\u306f\u3001\u3053\u306e\u9045\u5ef6\u306f\u901a\u5e38\u8efd\u5ea6\u307e\u305f\u306f\u4e2d\u7b49\u5ea6\u3067\u3042\u308b\u3053\u3068\u3092\u660e\u3089\u304b\u306b\u3057\u305f(Mefford 2008; Aldinger 2009; Unique)\u3002<\/p>\n\n\n\n<p>\u7279\u6709\u306e\u30e1\u30f3\u30d0\u30fc\u306e\u9593\u3067\u306f\u3001\u767a\u9054\u9045\u5ef6\u306e\u7bc4\u56f2\u306f\u3001\u7121\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e83\u3044\u3002 \u4e73\u5150\u3084\u5e7c\u5150\u306f\u767a\u9054\u4e0a\u306e\u7bc0\u76ee(\u5ea7\u308b\u3001\u306f\u3044\u6b69\u304f\u3001\u6b69\u304f)\u306b\u9054\u3059\u308b\u306e\u304c\u9045\u3044\u3053\u3068\u3082\u3042\u308a\u3001\u5fae\u5999\u306a\u904b\u52d5\u5236\u5fa1\u3001\u30c8\u30a4\u30ec\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3001\u500b\u4eba\u7684\u306a\u30b1\u30a2\u6280\u8853(\u7740\u66ff\u3048\u3084\u8131\u8863\u3001\u81ea\u7d66\u3001\u6d17\u6fef)\u3082\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3002<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u306e\u5f71\u97ff\u3092\u53d7\u3051\u3066\u3044\u306a\u3044\u3068\u601d\u308f\u308c\u308b\u6210\u4eba\u3067\u306f\u3001\u5fae\u5999\u306a\u5fb4\u5019\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u512a\u308c\u305f\u624b\u5148\u306e\u5668\u7528\u3055\u3002<br><em> &#8211; 3\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u975e\u5e38\u306b\u305a\u307c\u3089\u306a\u66f8\u304d\u624b\u3002\u5c0f\u7269\u3092\u6271\u3046\u306e\u304c\u82e6\u624b\u3002<br><em> &#8211; 1q21.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3064\u6210\u4eba<\/em><\/p>\n<\/blockquote>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h4 class=\"wp-block-heading\">\u81ea\u9589\u75c7\u307e\u305f\u306f\u81ea\u9589\u75c7\u69d8\u884c\u52d5\u306e\u30ea\u30b9\u30af\u5897\u52a0<\/h4>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6709\u3059\u308b\u5c0f\u5150\u304a\u3088\u3073\u6210\u4eba\u306f\u3001\u611b\u60c5\u3092\u62b1\u304d\u3001\u884c\u52d5\u4e0a\u306e\u554f\u984c\u306a\u3057\u306b\u4f1a\u5408\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002 \u3057\u304b\u3057\u3001\u3053\u308c\u3089\u306e\u5c11\u6570\u6d3e\u306f\u3001\u4e00\u9023\u306e\u884c\u52d5\u969c\u5bb3\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u7684\u884c\u52d5\u306e\u30ea\u30b9\u30af\u306b\u3055\u3089\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002 \u3057\u304b\u3057\u3001\u3053\u308c\u3089\u306e\u7570\u5e38\u306a\u6319\u52d5\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u91cd\u8907<\/a>\u307e\u305f\u306f\u5076\u7136\u306e\u95a2\u9023\u306e\u7d50\u679c\u3067\u3042\u308b\u304b\u3069\u3046\u304b\u306f\u307e\u3060\u308f\u304b\u3063\u3066\u3044\u306a\u3044\u3002 \u533b\u5b66\u6587\u732e\u306e1\u4ef6\u306e\u30b7\u30ea\u30fc\u30ba\u3067\u306f\u30018\u4eba\u306e\u5c0f\u5150\u306e\u3046\u30614\u4eba\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u3068\u8a3a\u65ad\u3055\u308c\u30011\u4eba\u304c\u6311\u6226\u7684\u884c\u52d5\u3092\u793a\u3057\u305f;\u4ed6\u306e24\u4eba\u306e\u30b7\u30ea\u30fc\u30ba\u3067\u306f\u30012\u4eba\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u306e\u7279\u5fb4\u3092\u6709\u3057\u305f;1\u4eba\u306f\u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3\u3092\u6709\u3057\u30011\u4eba\u306f\u6c17\u5206\u969c\u5bb3\u3092\u6709\u3057\u305f(Brunetti-Pierri 2008; Mefford 2008; Aldinger 2009)\u3002<br>\u56fa\u6709\u306e\u30e1\u30f3\u30d0\u30fc\u306e\u3046\u3061\u300111\u4eba\u4e2d3\u4eba\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3068\u8a3a\u65ad\u3055\u308c\u3066\u3044\u308b\u3002 \u5bb6\u65cf\u306b\u3088\u3063\u3066\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u4ed6\u306e\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u4ed6\u306e\u5c0f\u5150\u3068\u306e\u95a2\u4fc2\u304c\u56f0\u96e3\u3067\u3042\u308b\u3053\u3068\u3001\u304a\u305d\u3089\u304f\u4e88\u6e2c\u4e0d\u53ef\u80fd\u306a\u884c\u52d5\u3001\u6210\u4eba(4\u4eba\u306e\u5c0f\u5150\u30013\u6b73\u306e\u5c0f\u5150\u30011\u4eba\u306e\u5c0f\u5150)\u306b\u5bfe\u3059\u308b\u660e\u3089\u304b\u306a\u597d\u307f\u306e\u305f\u3081\u3067\u3042\u308b\u3053\u3068\u3001\u9cf4\u304d\u58f0\u3092\u4e0a\u3052\u3066\u75b2\u308c\u3084\u3059\u304f\u3001\u3066\u3093\u304b\u3093\u306b\u95a2\u9023\u3057\u305f\u6c17\u5206\u304c\u3088\u304f\u306a\u308b\u3053\u3068(3\u6b73)\u306a\u3069\u304c\u3042\u308b\u3002 \u307e\u305f\u30016\u6b73\u8fd1\u304f\u306e\u5b50\u4f9b\u306b\u306f\u3001\u3084\u3084\u786c\u76f4\u3057\u305f\u601d\u8003\u3084\u884c\u52d5\u3001\u4e0d\u9069\u5207\u306a\u53cb\u60c5\u3084\u4e0d\u5b89\u304c\u898b\u3089\u308c\u305f\u3002 2\u4eba\u306e\u5c0f\u5150\u304c\u591a\u304f\u306e\u611f\u899a\u523a\u6fc0\u3092\u5fc5\u8981\u3068\u3059\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002 \u3042\u308b\u6210\u4eba\u306e\u5831\u544a\u3067\u306f\u3001\u300c\u6012\u308a\u306e\u554f\u984c\u300d\u306b\u3064\u3044\u3066\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u305f\u3053\u3068\u304c\u3042\u308b\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u611b\u60c5\u6df1\u304f\u3001\u62b1\u3063\u3053\u3084\u30cf\u30b0\u304c\u597d\u304d\u3067\u3001\u7b11\u9854\u304c\u7f8e\u3057\u304f\u3001\u7518\u3048\u3093\u574a\u3067\u512a\u3057\u3044<em>\u3002<\/em><br><em> &#8211; 2\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u666e\u6bb5\u306e\u751f\u6d3b\u3067\u306f\u3001\u697d\u3057\u304f\u3066\u5e78\u305b\u305d\u3046\u306b\u3001\u7b11\u9854\u3067\u7b11\u3063\u3066\u3044\u307e\u3059\u3002\u611f\u899a\u51e6\u7406\u969c\u5bb3\u306e\u305f\u3081\u3001\u4f5c\u696d\u7642\u6cd5\u58eb\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306b\u3088\u308a\u3001\u5b66\u6821\u3067\u306f\u8155\u306e\u4e0b\u306b\u30b3\u30f3\u30d7\u30ec\u30c3\u30b7\u30e7\u30f3\u30b7\u30e3\u30c4\u3092\u7740\u7528\u3057\u3001\u65e5\u4e2d\u306f\u30b3\u30f3\u30d7\u30ec\u30c3\u30b7\u30e7\u30f3\u30d9\u30b9\u30c8\u3092\u7740\u3066\u3044\u307e\u3059\u3002\u4f5c\u696d\u7642\u6cd5\u58eb\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u306b\u3088\u308a\u3001\u5b66\u6821\u3067\u306f\u8155\u306e\u4e0b\u306b\u30b3\u30f3\u30d7\u30ec\u30c3\u30b7\u30e7\u30f3\u30b7\u30e3\u30c4\u3092\u7740\u7528\u3057\u3066\u3044\u307e\u3059\u3002<br> <em>&#8211; 3\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5f7c\u306f\u4eba\u3092\u559c\u3070\u305b\u308b\u3053\u3068\u304c\u5927\u597d\u304d\u3067\u3059\u3002\u3053\u306e\u5e74\u9f62\u306b\u306a\u3063\u3066\u3082\u3001\u4eba\u3092\u559c\u3070\u305b\u308b\u3053\u3068\u306f\u5f7c\u306b\u3068\u3063\u3066\u975e\u5e38\u306b\u91cd\u8981\u3067\u3059\u3002\u5f7c\u306f\u672c\u5f53\u306b\u512a\u3057\u304f\u3066\u3001\u3059\u3050\u306b\u53ef\u611b\u304f\u3066\u30ad\u30b9\u3057\u305f\u304f\u306a\u308b\u3088\u3046\u306a\u6c17\u5206\u306b\u5207\u308a\u66ff\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u3044\u3064\u3082\u62b1\u3063\u3053\u3055\u308c\u305f\u304c\u3063\u3066\u3001\u79c1\u306e\u9aea\u306e\u6bdb\u3092\u64ab\u3067\u305f\u304c\u308b\u306e\u3067\u3001\u79c1\u304c\u9aea\u306e\u6bdb\u3092\u64ab\u3067\u3066\u3042\u3052\u306a\u3044\u3068\u3044\u3051\u307e\u305b\u3093\u3002<br><em> &#8211; 3\u6b73<\/em><\/p>\n<\/blockquote>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%91%E3%81%97%E5%A4%89%E3%82%8F%E3%81%A3%E3%81%9F%E9%A1%94%E3%81%A4%E3%81%8D\"><\/span>\u5c11\u3057\u5909\u308f\u3063\u305f\u9854\u3064\u304d<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3064\u5b50\u4f9b\u3084\u5927\u4eba\u306e\u307b\u3068\u3093\u3069\u306f\u3001\u5bb6\u65cf\u306e\u4ed6\u306e\u30e1\u30f3\u30d0\u30fc\u3068\u540c\u3058\u3088\u3046\u306b\u898b\u3048\u307e\u3059\u3002\u5909\u308f\u3063\u305f\u7279\u5fb4\u3092\u89b3\u5bdf\u3059\u308b\u8a13\u7df4\u3092\u53d7\u3051\u305f\u533b\u5e2b\u306f\u3001\u76ee\u304c\u5927\u304d\u304f\u96e2\u308c\u3066\u3044\u305f\u308a\u3001\u984d\u304c\u7a81\u51fa\u3057\u3066\u3044\u305f\u308a\u3059\u308b\u3053\u3068\u306b\u6c17\u3065\u304f\u304b\u3082\u3057\u308c\u306a\u3044\u304c\u3001\u3053\u308c\u3089\u306e\u5146\u5019\u306f\u5fae\u5999\u3067\u3001\u660e\u3089\u304b\u3067\u306f\u306a\u3044\u3053\u3068\u3082\u3042\u308b\u3002\u533b\u5b66\u6587\u732e\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u7d04\u534a\u6570\u306e\u75c7\u4f8b\u3067\u306f\u3001\u5c11\u306a\u304f\u3068\u3082\u5c11\u3057\u5909\u308f\u3063\u305f\u9854\u306e\u7279\u5fb4\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u308b\u3002\u307e\u305f\u3001\u30e6\u30cb\u30fc\u30af\u306a\u89aa\u5fa1\u3055\u3093\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u4e2d\u3067\u3001\u30b0\u30e9\u30d9\u30e9\uff08\u7709\u9593\u3068\u9f3b\u306e\u4e0a\u306e\u7a7a\u9593\uff09\u304c\u5e83\u3044\u3068\u30b3\u30e1\u30f3\u30c8\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"292\" height=\"389\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-f.jpg\" alt=\"\" class=\"wp-image-18147\"\/><figcaption class=\"wp-element-caption\">\u4ed6\u306e\u5bb6\u65cf\u3068\u540c\u69d8\u30012\u304b\u6708<\/figcaption><\/figure><\/div>\n\n\n<p>\u4ed6\u306e\u5bb6\u65cf\u3068\u540c\u69d8\uff1a2\u304b\u6708[1]\u3001\u5e74\u9f62\u3068\u3068\u3082\u306b\u8efd\u6e1b\u3055\u308c\u308b\u7a81\u51fa\u3057\u305f\u76ee[1]\u3001\u5c0f\u3055\u306a\u9f3b[1]\u3001\u76ee\u7acb\u3064\u5929\u84cb\u88c2\uff08\u76ee\u982d\u3092\u6a2a\u5207\u308b\u76ae\u819a\u306e\u3072\u3060\uff09[1]\u3001\u5e83\u304f\u5e73\u3089\u306a\u9f3b\u6881[1]\u3001\u4f4e\u304f\u8a2d\u5b9a\u3055\u308c\u305f\u8033[1]\uff08Brunetti-Pierri 2008; Mefford 2008; Aldinger 2009; Unique\uff09\u3002<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u88c5\u7740\u3057\u305f\u5927\u4eba\u3068\u5b50\u4f9b\u306e\u30d5\u30a9\u30c8\u30ae\u30e3\u30e9\u30ea\u30fc\u304c\u51fa\u7248\u3055\u308c\u3066\u304a\u308a\uff08Brunetti-Pierri 2008\uff09\u3001Unique\u793e\u304b\u3089\u3054\u5e0c\u671b\u306e\u3054\u5bb6\u65cf\u306b\u63d0\u4f9b\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"634\" height=\"818\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-g.jpg\" alt=\"\" class=\"wp-image-18149\"\/><figcaption class=\"wp-element-caption\">4\u6b73<\/figcaption><\/figure><\/div>\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u7dba\u9e97\u306a\u9854\u7acb\u3061\u3001\u660e\u3089\u304b\u306a\u9055\u3044\u306f\u306a\u3044\u3002<br><em> &#8211; 2\u6b73<\/em><\/p>\n<\/blockquote>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%83%E8%87%93%E9%9A%9C%E5%AE%B3\"><\/span>\u5fc3\u81d3\u969c\u5bb3<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u91cd\u8907<\/a>\u304c\u3042\u308b\u3068\u3001\u5fc3\u81d3\u306e\u554f\u984c\u3067\u751f\u307e\u308c\u308b\u30ea\u30b9\u30af\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u306f\u4e0d\u660e\u3067\u3059\u3002 \u4e00\u90e8\u306e\u7814\u7a76\u8005\u306f\u3001\u5fc3\u81d3\u306e\u69cb\u9020\u7684\u306a\u554f\u984c\u3092\u62b1\u3048\u3066\u751f\u307e\u308c\u305f\u8d64\u3061\u3083\u3093\u306e\u6570\u304c\u4e88\u60f3\u4ee5\u4e0a\u306b\u591a\u3044\u3053\u3068\u3092\u767a\u898b\u3057\u307e\u3057\u305f\u304c\u3001\u305d\u3046\u3067\u306a\u3044\u7814\u7a76\u8005\u3082\u3044\u307e\u3059\u3002 \u5168\u4f53\u3068\u3057\u3066\u300135\u4eba\u306e\u4e73\u5150\u306e\u3046\u30614\u4eba\u304c\u533b\u5b66\u6587\u732e\u3067\u7570\u306a\u308b\u30b7\u30ea\u30fc\u30ba\u3067\u5831\u544a\u3055\u308c\u305f\u3002 \u3053\u306e\u3046\u30612\u4f8b\u306b\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d(VSD\u30019\u30da\u30fc\u30b8\u53c2\u7167)\u304c\u8a8d\u3081\u3089\u308c\u30011\u4f8b\u306b\u7247\u5fc3\u5ba4\u6027\u5fc3\u81d3(9\u30da\u30fc\u30b8\u53c2\u7167)\u304c\u8a8d\u3081\u3089\u308c\u305f(Brunetti-Pierri 2008; Mefford 2008)\u3002 \u5225\u306e\u4eba\u304c\u7236\u89aa(\u30d6\u30eb\u30cd\u30a42009\u5e74)\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060TAR\u9818\u57df\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>(3\u30da\u30fc\u30b8\u53c2\u7167)\u3092\u5831\u544a\u3055\u308c\u305f\u3002 \u60a3\u8005\u306f\u3001\u5927\u8840\u7ba1\u306e\u8ee2\u4f4d\u3001VSD\u3001\u80ba\u52d5\u8108\u72ed\u7a84\u3001\u304a\u3088\u3073\u53f3\u5fc3\u5ba4\u306e\u767a\u80b2\u4e0d\u5168\u3092\u542b\u3080\u8907\u96d1\u306a\u5fc3\u75be\u60a3\u3092\u6709\u3057\u3066\u3044\u305f(\u5f8c\u8ff0\u304a\u3088\u30739\u30da\u30fc\u30b8\u53c2\u7167)\u3002<br>\u30e6\u30cb\u30fc\u30af\u306a\u30e1\u30f3\u30d0\u30fc\u306e\u3046\u3061\u30017\/31\u304c\u5fc3\u81d3\u969c\u5bb3\u3067\u751f\u307e\u308c\u3001\u305d\u306e\u5185\u8a33\u306f\u3001VSD\u306e3\u4eba\u3001\u80ba\u52d5\u8108\u72ed\u7a84\u306e1\u4eba\u3001\u80ba\u9759\u8108\u72ed\u7a84\u306e1\u4eba\u3001\u81ea\u7136\u9589\u585e\u3057\u3066\u3044\u308b\u4e0d\u7279\u5b9a\u306e\u5fc3\u81d3\u5b54\u306e1\u4eba\u3001\u304a\u3088\u3073\u7279\u5b9a\u4e0d\u80fd\u306e\u6162\u6027\u5fc3\u4e0d\u5168\u306e1\u4eba\u3067\u3042\u3063\u305f\u3002 2\u4eba\u306e\u8d64\u3093\u574a\u304c\u30d5\u30a1\u30ed\u30c3\u30c8\u56db\u5fb4\u75c7[ToF]\u3067\u751f\u307e\u308c\u305f\u3002 7\u4eba\u306e\u3046\u30615\u4eba\u306f\u3001\u5fc3\u81d3\u306e\u554f\u984c\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306b\u624b\u8853\u3092\u5fc5\u8981\u3068\u3057\u307e\u3057\u305f(\u30e6\u30cb\u30fc\u30af)\u3002<br>ToF\u306b\u95a2\u3059\u308b1\u4ef6\u306e\u7814\u7a76\u3067\u306f\u3001\u307b\u307c100\u4eba\u306b1\u4eba\u306e\u4e73\u5150\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u3067\u90e8\u5206\u91cd\u8907(4\/512)\u307e\u305f\u306f\u90e8\u5206\u6b20\u5931(1\/512)<\/a>\u306e\u3044\u305a\u308c\u304b\u3092\u6709\u3057\u3066\u304a\u308a\u3001\u5076\u7136\u306b\u4e88\u60f3\u3055\u308c\u308b\u3088\u308a\u3082\u306f\u308b\u304b\u306b\u9ad8\u3044\u5272\u5408\u3067\u3042\u3063\u305f\u3002 \u3053\u308c\u3089\u306e\u65b0\u751f\u5150\u306f\u5fc3\u81d3\u969c\u5bb3\u3092\u6709\u3057\u3066\u3044\u305f\u304c\u3001\u8a8d\u77e5\u3001\u793e\u4f1a\u3001\u795e\u7d4c\u306e\u554f\u984c\u306f\u306a\u304b\u3063\u305f(Greenway 2009)\u3002 ToF\u3092\u6709\u3059\u308b2\u4eba\u306e\u72ec\u7279\u306a\u5c0f\u5150\u306e\u3046\u3061\u30011\u4eba\u306f\u4e2d\u7b49\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u767a\u9054\u9045\u5ef6\u3092\u6709\u3057\u3001\u4ed6\u306e1\u4eba\u306f\u82e5\u3059\u304e\u3066\u8a55\u4fa1\u3067\u304d\u306a\u304b\u3063\u305f(\u72ec\u7279)\u3002<br>\u5fc3\u81d3\u306e\u554f\u984c\u306b\u5bc4\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b2\u3064\u306e\u907a\u4f1d\u5b50\u304c\u540c\u5b9a\u3055\u308c\u3066\u3044\u308b(1q21.1\u306e\u907a\u4f1d\u5b50\u306e\u4e00\u90e8\u3092\u53c2\u7167\u300119\u30da\u30fc\u30b8)\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"714\" height=\"721\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-h.jpg\" alt=\"\" class=\"wp-image-18151\"\/><\/figure><\/div>\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5fc3\u81d3\u624b\u8853\u5f8c\u306e\u5143\u6c17\u306a\u59ff\u3002<br><em> &#8211; 3\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n\n<p>\u500b\u3005\u306e\u5b50\u4f9b\u305f\u3061\u306b\u8a3a\u65ad\u3055\u308c\u308b\u5fc3\u81d3\u306e\u554f\u984c\u306f\u3001\u5358\u4e00\u307e\u305f\u306f\u8907\u6570\u306e\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u308c\u3089\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d<\/strong>(VSD) &#8211; \u5fc3\u81d3\u306e2\u3064\u306e\u30dd\u30f3\u30d7\u30c1\u30e3\u30f3\u30d0\u30fc(\u5fc3\u5ba4)\u306e\u9593\u306e\u58c1\u306e\u7a74\u3002 \u3053\u308c\u306b\u3088\u308a\u3001\u5de6\u5ba4\u304b\u3089\u53f3\u5ba4\u3078\u306e\u8840\u6d41\u304c\u53ef\u80fd\u306b\u306a\u308a\u3001\u80ba\u3078\u306e\u8840\u6d41\u304c\u5897\u52a0\u3057\u307e\u3059\u3002 \u6cbb\u7642\u306f\u500b\u5225\u306b\u6c7a\u5b9a\u3055\u308c\u308b\u3002 \u5c0f\u3055\u306aVSD\u306f\u81ea\u767a\u7684\u306b\u9589\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3088\u308a\u5927\u304d\u306aVSD\u306f\u901a\u5e38\u3001\u904e\u5270\u306a\u8840\u6d41\u304b\u3089\u751f\u3058\u308b\u80ba\u969c\u5bb3\u3092\u9632\u3050\u305f\u3081\u306b\u5916\u79d1\u7684\u4fee\u5fa9\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<p><strong>\u5927\u8840\u7ba1\u8ee2\u4f4d<\/strong> : \u5fc3\u81d3\u304b\u3089\u4f38\u3073\u308b\u4e3b\u306a\u8840\u7ba1\uff08\u5927\u52d5\u8108\u3068\u80ba\u52d5\u8108\uff09\u304c\u9006\u306b\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3002\u3053\u306e\u72b6\u614b\u306e\u8d64\u3061\u3083\u3093\u306f\u3001\u901a\u5e38\u3001\u751f\u5f8c\u3059\u3050\u306b\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong><strong>\u80ba\u52d5\u8108\u72ed\u7a84\u75c7<\/strong><\/strong>: \u80ba\u306b\u8840\u6db2\u3092\u9001\u308b\u52d5\u8108\u306e\u5165\u308a\u53e3\u304c\u7570\u5e38\u306b\u72ed\u3044\u72b6\u614b\u3002\u3053\u306e\u72ed\u7a84\u306f\u901a\u5e38\u3001\u80ba\u52d5\u8108\u5f01\u3068\u80ba\u52d5\u8108\u81ea\u4f53\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p><strong>\u80ba\u9759\u8108\u72ed\u7a84\u75c7<\/strong> : \u9178\u7d20\u3092\u591a\u304f\u542b\u3080\u8840\u6db2\u3092\u80ba\u304b\u3089\u5fc3\u81d3\u306b\u623b\u3059\u305f\u3081\u306e\u8840\u7ba1\u306b\u969c\u5bb3\uff08\u9589\u585e\uff09\u304c\u3042\u308b\u30021\u672c\u306e\u80ba\u9759\u8108\u3060\u3051\u306b\u767a\u751f\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u3001\u8907\u6570\u306e\u9759\u8108\u306b\u540c\u6642\u306b\u767a\u751f\u3057\u307e\u3059\u3002\u9589\u585e\u306e\u539f\u56e0\u306f\u3001\u9759\u8108\u306e\u58c1\u304c\u539a\u304f\u306a\u3063\u3066\u3044\u308b\u3053\u3068\u3067\u3059\u3002\u80ba\u9759\u8108\u3092\u5e83\u3052\u308b\u624b\u8853\u306f\u3001\u901a\u5e38\u3001\u77ed\u671f\u7684\u306a\u89e3\u6c7a\u7b56\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7<\/strong> : VSD\u3068\u80ba\u306b\u3064\u306a\u304c\u308b\u52d5\u8108\u306e\u5f01\u76f4\u4e0b\u306e\u9589\u585e\u306e\u4e21\u65b9\u304c\u95a2\u4e0e\u3059\u308b\u8907\u96d1\u306a\u5fc3\u75be\u60a3\u3002 \u9752\u3044\u8840\u6db2(\u8131\u9178\u7d20\u3055\u308c\u305f\u8840\u6db2)\u306f\u3001\u80ba\u306b\u5bb9\u6613\u306b\u9178\u7d20\u3092\u53d6\u308a\u8fbc\u3080\u3053\u3068\u304c\u3067\u304d\u305a\u3001\u305d\u306e\u4e00\u90e8\u304c\u7a74\u3092\u901a\u3063\u3066\u4ed6\u306e\u30dd\u30f3\u30d7\u5ba4\u306b\u6d41\u308c\u8fbc\u307f\u3001\u305d\u3053\u304b\u3089\u4f53\u5185\u306b\u9001\u308a\u51fa\u3055\u308c\u307e\u3059\u3002 \u4ed6\u306b\u5371\u967a\u56e0\u5b50\u304c\u306a\u3051\u308c\u3070\u3001\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306e\u4e73\u5150\u306e95%\u4ee5\u4e0a\u304c\u751f\u5f8c1\u5e74\u4ee5\u5185\u306b\u624b\u8853\u3092\u3046\u307e\u304f\u53d7\u3051\u305f\u3053\u3068\u306b\u306a\u308b\u3002<\/p>\n\n\n\n<p><strong>\u5358\u5fc3\u5ba4\u306e\u5fc3\u81d3 <\/strong>: 2\u3064\u306e\u5fc3\u5ba4\u306e\u4ee3\u308f\u308a\u306b1\u3064\u306e\u5fc3\u5ba4(\u5fc3\u81d3\u306e\u4e0b\u90e8\u3001\u30dd\u30f3\u30d7\u5ba4)\u304c\u3042\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u304c\u3001\u5b9f\u969b\u306b\u306f\u3053\u308c\u306f\u307e\u308c\u3067\u3059\u3002 \u3088\u308a\u4e00\u822c\u7684\u306b\u306f\u3001\u300c\u5358\u5fc3\u5ba4\u6027\u5fc3\u81d3\u300d\u3068\u3044\u3046\u7528\u8a9e\u306f\u3001\u4e0a\u90e82\u3064\u306e\u5fc3\u8154[\u5fc3\u623f]\u304b\u3089\u306e\u8840\u6db2\u304c\u3001\u63a5\u7d9a\u4e0d\u826f\u3092\u4ecb\u3057\u3066\u512a\u4f4d\u306a\u53f3\u4e0b\u90e8\u307e\u305f\u306f\u5de6\u4e0b\u90e8\u5fc3\u8154[\u5fc3\u5ba4]\u306b\u6d41\u308c\u8fbc\u3080\u5fc3\u81d3\u3092\u610f\u5473\u3059\u308b\u3002 \u3053\u308c\u3092\u8aac\u660e\u3059\u308b\u5225\u306e\u65b9\u6cd5\u306f\u3001\u4e8c\u91cd\u5165\u53e3\u5fc3\u5ba4\u3068\u3057\u3066\u306e\u3082\u306e\u3067\u3042\u308b\u3002 \u5178\u578b\u7684\u306b\u306f\u3001\u7b2c\u4e8c\u8133\u5ba4\u306e\u975e\u512a\u6027\u3001\u767a\u9054\u4e0d\u5168\u304c\u307f\u3089\u308c\u308b\u3002 \u5358\u5fc3\u5ba4\u6027\u5fc3\u81d3\u306f\u901a\u5e38\u3001\u5916\u79d1\u7684\u4fee\u5fa9\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%89%B9%E5%BE%B4-2\"><\/span>\u305d\u306e\u4ed6\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u2981 <strong>\u767a\u4f5c<\/strong><br>\u767a\u4f5c\u306f\u3001\u533b\u5b66\u6587\u732e\u3067\u306f35\u4eba\u4e2d5\u4eba\u3001\u56fa\u6709\u306e\u30e1\u30f3\u30d0\u30fc\u3067\u306f11\u4eba\u4e2d4\u4eba\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002 \u7279\u6709\u306e\u30e1\u30f3\u30d0\u30fc\u306e\u3046\u3061\u3001\u300c\u6b20\u52e4\u300d\u307e\u305f\u306f\u767a\u4f5c\u306f\u5c0f\u5150\u671f\u306e\u65e9\u671f\u304b\u3089\u4e2d\u671f\u306b\u59cb\u307e\u3063\u305f\u3002 \u30d0\u30eb\u30d7\u30ed\u9178\u30ca\u30c8\u30ea\u30a6\u30e0(Brunetti-Pierri 2008; Mefford 2008; Unique)\u306e\u3088\u3046\u306a\u6a19\u6e96\u7684\u306a\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3055\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u2981<strong> \u810a\u67f1\u6e7e\u66f2<\/strong><br>\u4e00\u9023\u306e24\u4f8b\u306e\u810a\u67f1\u6e7e\u66f2(\u810a\u67f1\u5074\u5f2f\u75c7)\u306e1\u4f8b\u304c\u533b\u5b66\u6587\u732e(Brunetti-Pierri 2008)\u3067\u5831\u544a\u3055\u308c\u305f\u3002 \u30e6\u30cb\u30fc\u30af\u3067\u306f\u300110\u4f8b\u4e2d4\u4f8b\u3001\u305d\u306e\u4ed6\u306e\u70b9\u3067\u306f\u5065\u5eb7\u306a\u6210\u4eba2\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002 2\u6b73\u306e\u4e73\u5150\u304c6\u304b\u6708\u307e\u3067\u306b\u66f2\u7387\u3092\u767a\u75c7\u3057\u30012\u5e74\u307e\u3067\u306b30\u5ea6\u6e2c\u5b9a\u3055\u308c\u3001\u80cc\u90e8\u88c5\u5177\u3067\u6cbb\u7642\u3055\u308c\u305f\u3002<br>10\u4ee3\u306e\u82e5\u8005\u304c\u6210\u9577\u30b9\u30d1\u30fc\u30c8\u5f8c\u306b\u91cd\u5ea6\u306e\u5074\u5f2f\u75c7\u3092\u767a\u75c7\u3057\u305f\u3002 \u6210\u4eba2\u4f8b\u304c\u8efd\u5fae\u306a\u554f\u984c\u3092\u5831\u544a\u3057\u305f\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u8ecd\u968a\u306b\u5165\u968a\u3059\u308b\u969b\u3001\u533b\u5e2b\u304b\u3089\u80cc\u9aa8\u304c\u5c11\u3057\u66f2\u304c\u3063\u3066\u3044\u308b\u3068\u8a00\u308f\u308c\u307e\u3057\u305f\u304c\u3001\u5175\u5f79\u306b\u652f\u969c\u306f\u3042\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u5927\u3057\u305f\u3053\u3068\u306f\u306a\u3044\u3002<br><em> &#8211; \u6210\u4eba<\/em><\/p>\n<\/blockquote>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u2981 <strong>\u8efd\u5ea6\u306e\u751f\u6b96\u5668\u5947\u5f62<\/strong><br>\u5c3f\u9053\u4e0b\u88c2(\u9670\u830e\u306e\u5148\u7aef\u3067\u306f\u306a\u304f\u9670\u830e\u306e\u4e0b\u5074\u306b\u7a74\u304c\u958b\u3044\u3066\u3044\u308b)\u3001\u51fa\u751f\u6642\u306b\u505c\u7559\u3057\u3066\u3044\u305f\u7cbe\u5de3\u306a\u3069\u3001\u533b\u5b66\u6587\u732e\u3067\u306f27\u4f8b\u4e2d3\u4f8b\u3067\u8efd\u5ea6\u306e\u6027\u5668\u7570\u5e38\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002 \u3053\u308c\u3089\u306e\u7570\u5e38\u306f\u3044\u305a\u308c\u3082\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u624b\u8853(Brunetti-Pierri 2008; Mefford 2008)\u3067\u88dc\u6b63\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002 9\u4f8b\u306e\u4e2d\u3067\u30011\u4f8b\u306f\u505c\u7559\u7cbe\u5de3\u3067\u751f\u307e\u308c\u3001\u5225\u306e1\u4f8b\u306f\u66d6\u6627\u306a\u6027\u5668\u3067\u3042\u3063\u305f\u3002 \u4e21\u75c7\u4f8b\u3068\u3082\u624b\u8853\u304c\u5fc5\u8981\u3067\u3042\u3063\u305f(\u56fa\u6709)\u3002<\/p>\n\n\n\n<p>\u2981 <strong>\u4ed6\u306e\u5148\u5929\u7570\u5e38\u306e\u30ea\u30b9\u30af\u5897\u52a0<\/strong><br>\u4ed6\u306e\u8efd\u5ea6\u307e\u305f\u306f\u3088\u308a\u91cd\u7be4\u306a\u5148\u5929\u6027\u6b20\u640d\u304c\u8a8d\u3081\u3089\u308c\u3066\u3044\u308b\u304c\u3001\u3053\u308c\u3089\u306f\u30d1\u30bf\u30fc\u30f3\u306b\u5f93\u308f\u306a\u3044\u3088\u3046\u3067\u3042\u308a\u30011q21.1\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3068\u306e\u56e0\u679c\u95a2\u4fc2\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u306f\u4e0d\u660e\u3067\u3042\u308b\u3002 \u533b\u5b66\u6587\u732e\u306e\u5831\u544a\u306b\u306f\u3001\u810a\u690e\u306e\u5e95\u90e8\u306b\u5c0f\u3055\u306a\u4ed9\u9aa8\u9665\u51f9[1];\u534a\u690e(\u690e\u9aa8\u306e\u7247\u5074\u306e\u767a\u9054\u304c\u4e0d\u5b8c\u5168\u3067\u6954\u72b6\u306b\u306a\u308b)[1];\u5f1b\u7de9\u6027\u307e\u305f\u306f\u8131\u81fc\u6027\u95a2\u7bc0[2];\u51fa\u751f\u6642\u306e\u591a\u767a\u6027\u95a2\u7bc0\u62d8\u7e2e(\u95a2\u7bc0\u62d8\u7e2e\u75c7[1];\u5185\u53cd\u8db3[1];Brunetti-Pierri 2008; Mefford 2008)\u306a\u3069\u304c\u3042\u308b\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E6%99%82\"><\/span>\u51fa\u751f\u6642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u56fa\u6709\u306e\u5bb6\u7cfb\u306f\u6b63\u5e38\u306a\u598a\u5a20\u3092\u5831\u544a\u3057\u3066\u304a\u308a\u30019\u4eba\u4e2d1\u4eba\u304c\u80ce\u52d5\u306e\u6b20\u5982\u306b\u6c17\u3065\u3044\u305f\u3068\u5831\u544a\u3057\u3066\u3044\u308b\u3002 \u51fa\u751f\u6642\u306b\u306f\u3001\u51fa\u751f\u6642\u307e\u305f\u306f\u8fd1\u3044\u3046\u3061\u306b\u51fa\u751f\u3057\u3066\u304a\u308a\u3001\u51fa\u751f\u6642\u306e\u4f53\u683c\u306f\u826f\u597d\u3067\u3042\u308a\u3001\u5b50\u7647\u524d\u75c7\u304c35\u9031\u76ee\u306b\u8a98\u767a\u3055\u308c\u305f\u5150\u3067\u306f2.69\u30ad\u30ed\u30b9(5\u30dd\u30f3\u30c9\/15\u30aa\u30f3\u30b9)\u3001\u6e80\u671f\u7523\u5150\u3067\u306f4.36\u30ad\u30ed\u30b9(9\u30dd\u30f3\u30c9\/10\u30aa\u30f3\u30b9)\u3067\u3042\u3063\u305f\u3002 \u307b\u3068\u3093\u3069\u306e\u65b0\u751f\u5150\u306f\u5065\u5eb7\u3067\u3042\u3063\u305f\u304c\u300135\u9031\u3067\u751f\u307e\u308c\u305f\u65b0\u751f\u5150\u306f\u9ec4\u75b8\u3092\u793a\u3057\u305f\u3002 \u51fa\u751f\u6642\u4f53\u91cd\u306f\u826f\u597d\u3067\u3001\u30a2\u30d7\u30ac\u30fc\u30b9\u30b3\u30a2(\u51fa\u751f\u6642\u306e\u5065\u5eb7\u5ea6\u306e\u5c3a\u5ea6)\u3082\u826f\u597d\u3067\u3042\u3063\u305f\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u30011\u4eba\u306e\u8d64\u3044\u76ae\u819a\u3092\u3082\u3064<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/premature-birth\/\">\u65e9\u7523<\/a>\u5150\u306e\u3088\u3046\u306b\u898b\u3048\u3001\u884c\u52d5\u3057\u305f\u3002\u8d64\u3044\u76ae\u819a\u3092\u3082\u3061\u3001\u305f\u304f\u3055\u3093\u7720\u308a\u3001\u6388\u4e73\u306e\u305f\u3081\u306b\u76ee\u3092\u899a\u307e\u3057\u3001\u4f53\u6e29\u3092\u7dad\u6301\u3059\u308b\u306e\u306b\u82e6\u52b4\u3057\u305f\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"389\" height=\"292\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-i.jpg\" alt=\"\" class=\"wp-image-18153\"\/><figcaption class=\"wp-element-caption\">\u51fa\u751f2\u65e5\u76ee<\/figcaption><\/figure><\/div><\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%A6%E9%A4%8C%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span>\u7d66\u990c\u306b\u3064\u3044\u3066<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>9\u4eba\u306e\u30e6\u30cb\u30fc\u30af\u306a\u30e1\u30f3\u30d0\u30fc\u306e\u3046\u3061\u30015\u4eba\u306f\u54fa\u4e73\u56f0\u96e3\u304c\u306a\u304f\u3001\u6bcd\u4e73\u80b2\u5150\u304c\u6210\u529f\u3057\u305f\u3002 \u6bcd\u4e73\u3092\u4e0e\u3048\u3089\u308c\u305f1\u4eba\u306e\u8d64\u3093\u574a\u306f\u4f4e\u4f53\u91cd\u306e\u307e\u307e\u3067\u3042\u3063\u305f\u3002 \u982d\u84cb\u9aa8\u7652\u5408\u75c7\u3067\u751f\u307e\u308c\u305f1\u4eba\u306e\u65b0\u751f\u5150\u306b2\u9031\u9593\u7d4c\u7ba1\u6804\u990a\u3092\u884c\u3063\u305f\u304c\u30013\u9031\u76ee\u307e\u3067\u306b\u4eba\u5de5\u6804\u990a\u3092\u884c\u3063\u305f\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/premature-birth\/\">\u65e9\u7523<\/a>\u5150\u306e\u3088\u3046\u306a\u884c\u52d5\u3092\u3057\u3066\u3044\u305f\u8d64\u3061\u3083\u3093\u306f\u4f53\u304c\u5f31\u304f\u3001\u5438\u3044\u8fbc\u3080\u306e\u306b\u5fc5\u8981\u306a\u53cd\u5c04\u304c\u306a\u304b\u3063\u305f\u3002<br>\u5f7c\u306f\u6388\u4e73\u30ab\u30c3\u30d7\u304b\u3089\u6bcd\u4e73\u3092\u4e0e\u3048\u3089\u308c\u308b\u3088\u3046\u306b2\u6642\u9593\u3054\u3068\u306b\u76ee\u899a\u3081\u305f\u3002 2\u9031\u9593\u5f8c\u3001\u591c\u9593\u306e\u98fc\u6599\u9593\u306e\u30ae\u30e3\u30c3\u30d7\u306f\u9577\u304f\u306a\u3063\u305f\u3002 7\u9031\u9593\u5f8c\u3001\u5f7c\u306f\u6bcd\u4e73\u80b2\u5150\u3092\u59cb\u3081\u308b\u306e\u306b\u5341\u5206\u306a\u529b\u3092\u6301\u3061\u30012\u5e74\u9593\u7d99\u7d9a\u3057\u305f\u3002 \u5f7c\u306f\u4ed6\u306e\u98f2\u307f\u7269\u304b\u3089\u98f2\u3080\u306e\u304c\u9045\u308c\u305f\u304c\u30012\u6642\u306b\u30ab\u30c3\u30d7\u304b\u3089\u98f2\u3080\u3053\u3068\u3092\u899a\u3048\u305f\u3002 \u3053\u306e\u624b\u9593\u306e\u304b\u304b\u308b\u30b9\u30bf\u30fc\u30c8\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u5f7c\u306f\u6700\u7d42\u7684\u306b\u56fa\u4f53\u306b\u71b1\u5fc3\u306b\u53cd\u5fdc\u3057\u305f\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5f7c\u306f\u3088\u304f\u98df\u3079\u308b\u5b50\u3067\u3059\u30028\u304b\u6708\u9803\u304b\u3089\u672c\u683c\u7684\u306a\u98df\u4e8b\u3092\u59cb\u3081\u305f\u306e\u3067\u3059\u304c\u3001\u672c\u5f53\u306b\u71b1\u5fc3\u306b\u98df\u3079\u3066\u304f\u308c\u307e\u3057\u305f\u3002\u4f55\u3067\u3082\u98df\u3079\u308b\u3057\u3001\u91cf\u3082\u591a\u304b\u3063\u305f\u3067\u3059\u3002\u304a\u3070\u3042\u3061\u3083\u3093\u3068\u540c\u3058\u91cf\u3092\u98df\u3079\u3066\u3044\u305f\u306e\u3067\u3001\u65ad\u3089\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u6642\u3082\u3042\u308a\u307e\u3057\u305f\u3002\u4eca\u3067\u306f\u3001\u666e\u901a\u306e\u91cf\u3092\u98df\u3079\u3001\u9806\u8abf\u306b\u9032\u3093\u3067\u3044\u307e\u3059\u3002<br><em> &#8211; \u3082\u3046\u3059\u30503\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u3042\u308b\u304a\u5b50\u3055\u3093\u306f\u3001\u3088\u304f\u98df\u3079\u308b\u306e\u3067\u3059\u304c\u3001\u30ab\u30c8\u30e9\u30ea\u30fc\u3092\u6271\u3046\u306e\u304c\u96e3\u3057\u304f\u3001\u624b\u3092\u4f7f\u3044\u305f\u304c\u308b\u306e\u3067\u3001\u91cd\u308a\u4ed8\u304d\u306e\u30ab\u30c8\u30e9\u30ea\u30fc\u304c\u5fc5\u8981\u3067\u3057\u305f\u3002\u3042\u308b\u5b50\u3069\u3082\u306f\u30016\u6b73\u306b\u306a\u3063\u3066\u3082\u98df\u3079\u65b9\u304c\u975e\u5e38\u306b\u3046\u308b\u3055\u304f\u3001\u30d5\u30eb\u30fc\u30c4\u30e8\u30fc\u30b0\u30eb\u30c8\u306e\u3088\u3046\u306a\u584a\u306e\u3042\u308b\u98df\u3079\u7269\u3092\u62d2\u5426\u3057\u307e\u3059\u3002<br>2\u4eba\u306e\u30e6\u30cb\u30fc\u30af\u30e1\u30f3\u30d0\u30fc\u306f\u3001\u80c3\u98df\u9053\u9006\u6d41\u75c7\u3092\u5831\u544a\u3057\u3066\u3044\u307e\u3059\u3002\u80c3\u98df\u9053\u9006\u6d41\u75c7\u3068\u306f\u3001\u98df\u7269\u304c\u80c3\u306e\u4e2d\u306b\u623b\u308a\u3001\u5410\u3044\u305f\u308a\u3001\u5438\u3044\u8fbc\u3093\u3060\u308a\u3057\u3066\u3001\u8aa4\u56a5\u6027\u80ba\u708e\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u80f8\u90e8\u611f\u67d3\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u3082\u306e\u3067\u3059\u30021\u4eba\u306f\u5927\u4eba\u3067\u3001\u3082\u30461\u4eba\u306f6\u6b73\u306e\u5b50\u4f9b\u3067\u3001\u524d\u304b\u304c\u307f\u306b\u306a\u308b\u3068\u80c3\u6db2\u304c\u51fa\u3066\u304f\u308b\u3068\u3044\u3046\u30b1\u30fc\u30b9\u3067\u3059\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%88%90%E9%95%B7\"><\/span>\u6210\u9577<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5b66\u6587\u732e\u3067\u5831\u544a\u3055\u308c\u305f27\u4f8b\u306e\u3046\u3061\u300122\u4f8b\u3067\u6210\u9577\u306f\u6b63\u5e38\u3067\u3042\u3063\u305f\u3002 3\u4eba\u306e\u4e73\u5150\u307e\u305f\u306f\u5c0f\u5150\u304c\u767a\u80b2\u4e0d\u5168\u3092\u7d4c\u9a13\u3057\u3001\u305d\u306e\u6210\u9577\u901f\u5ea6\u306f\u7570\u5e38\u306b\u9045\u304f\u30011\u4eba\u3067\u306f\u4e0d\u5747\u4e00\u306a\u6210\u9577\u304c\u3042\u308a\u30011\u4eba\u306f\u9aa8\u5e74\u9f62\u304c\u9ad8\u304b\u3063\u305f(Brunetti-Pierri 2008; Mefford 2008)\u3002 9\u540d\u306e\u30e6\u30cb\u30fc\u30af\u30e1\u30f3\u30d0\u30fc\u306e\u3046\u3061\u3001\u6210\u9577\u7387\u306f\u5e73\u57474\u540d\u30012\u540d\u306f\u77ed\u304f\u30011\u540d\u306f\u30b9\u30ea\u30e0\u3067\u3042\u3063\u305f\u3002 2\u4eba\u306e\u5b50\u4f9b\u306f\u80cc\u304c\u9ad8\u304f\u30011\u4eba\u306f\u8584\u3044\u3002 4\u4eba\u306e\u5bb6\u65cf\u304c\u3001\u5b50\u4f9b\u306f\u4f53\u91cd\u304c\u5c11\u306a\u3044\u304b\u3001\u5e73\u5747\u4f53\u91cd\u3092\u8d85\u3048\u3066\u3044\u308b\u3068\u30b3\u30e1\u30f3\u30c8\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u9aa8\u683c\u304c\u592a\u304f\u3001\u4ed6\u306e\u4eba\u304c\u5f7c\u3092\u62b1\u304d\u4e0a\u3052\u308b\u3068\u3001\u300c\u304c\u3063\u3057\u308a\u3057\u3066\u3044\u308b\u306d\u300d\u3068\u8a00\u308f\u308c\u308b\u3002<br><em> &#8211; 3\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u8eab\u9577\u304c\u9ad8\u3044\u304b\u4f4e\u3044\u304b\u3001\u5e73\u5747\u7684\u304b\u3068\u8a00\u3048\u3070\u3001\u4f4e\u3044\u65b9\u3060\u3068\u601d\u3044\u307e\u3059\u304c\u3001\u5b9f\u969b\u306b\u306f\u3082\u3063\u3068\u3057\u3083\u304f\u308c\u3066\u3044\u307e\u3059\u3002\u982d\u304c\u5927\u304d\u304f\u3066\u3001\u8155\u304c\u3061\u3087\u3063\u3068\u77ed\u3059\u304e\u307e\u3059\u3002\u4f53\u306e\u4ed6\u306e\u90e8\u5206\u306f\u666e\u901a\u3067\u3059\u30021\u30012\u5e74\u524d\u306f\u5c11\u3057\u592a\u3063\u3066\u3044\u3066\u3001\u307d\u3063\u3061\u3083\u308a\u3057\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u307e\u3057\u305f\u304c\u3001\u4eca\u306f\u5747\u6574\u304c\u3068\u308c\u3066\u3044\u307e\u3059\u3002<br><em>&#8211; 3\u6b73<\/em><br><\/p>\n<\/blockquote>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%81%A5%E5%BA%B7%E3%81%A8%E7%A6%8F%E7%A5%89\"><\/span>\u5065\u5eb7\u3068\u798f\u7949<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u611f\u67d3\u75c7\u306f\u5c0f\u5150\u671f\u306b\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3064\u5b50\u3069\u3082\u304c\u4ed6\u306e\u5b50\u3069\u3082\u3088\u308a\u3082\u611f\u67d3\u75c7\u306b\u304b\u304b\u308a\u3084\u3059\u3044\u3068\u3044\u3046\u8a3c\u62e0\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u3042\u308b\u5bb6\u65cf\u306f\u30013\u6b73\u306e\u606f\u5b50\u304c\u6d41\u884c\u306e\u98a8\u90aa\u3092\u3053\u3068\u3054\u3068\u304f\u5f15\u304d\u3001\u4e73\u5e7c\u5150\u671f\u306b\u306f\u591a\u304f\u306e\u547c\u5438\u5668\u75be\u60a3\u3092\u62b1\u3048\u3066\u3044\u305f\u3068\u5831\u544a\u3057\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u5225\u306e\u3054\u5bb6\u5ead\u3067\u306f\u3001\u304a\u5b50\u3055\u3093\u304c2\u6b73\u306b\u306a\u308b\u524d\u306b\u80ba\u708e\u3084\u9ac4\u819c\u708e\u306a\u3069\u306e\u611f\u67d3\u75c7\u306b\u4f55\u5ea6\u3082\u304b\u304b\u3063\u305f\u305d\u3046\u3067\u3059\u3002\u3053\u306e\u5bb6\u65cf\u3068\u4ed6\u306e1\u5bb6\u65cf\u306f\u3001\u5b50\u3069\u3082\u304c\u75c5\u6c17\u306b\u306a\u308b\u3068\u6025\u6fc0\u306b\u5065\u5eb7\u72b6\u614b\u304c\u60aa\u5316\u3059\u308b\u3068\u5831\u544a\u3057\u3066\u3044\u307e\u3059\u30022\u4eba\u306e\u5b50\u4f9b\u306f\u5598\u606f\u307e\u305f\u306f\u5598\u606f\u306b\u4f3c\u305f\u75c7\u72b6\u304c\u3042\u308a\u30011\u4eba\u306f\u30df\u30c8\u30b3\u30f3\u30c9\u30ea\u30a2\u8907\u5408\u4f53IV\u306e\u75c7\u72b6\u304c\u3042\u308a\u3001\u30b3\u30a8\u30f3\u30b6\u30a4\u30e0Q10\u3092\u670d\u7528\u3057\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u30014\u540d\u306e\u76ae\u819a\u75be\u60a3\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u30011\u540d\u306f\u4e7e\u766c\u30013\u540d\u306f\u6e7f\u75b9\u3067\u3042\u308b\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u304c1q21.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u306f\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002\u75c5\u6c17\u3068\u75c5\u6c17\u306e\u9593\u3067\u306f\u3001\u4e21\u89aa\u306f\u5b50\u3069\u3082\u304c\u5065\u5eb7\u3067\u5e78\u305b\u3067\u3042\u308a\u3001\u9032\u6b69\u3057\u3066\u3044\u308b\u3068\u5831\u544a\u3057\u3066\u3044\u307e\u3059\u3002\uff08Brunetti-Pierri 2008; Unique\uff09<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5f7c\u306e\u547c\u5438\u5668\u7cfb\u306e\u554f\u984c\u306b\u3082\u5f71\u97ff\u3092\u4e0e\u3048\u3066\u3044\u308b\u3068\u601d\u3044\u307e\u3059\u3002\u4ed6\u306e\u304a\u5b50\u3055\u3093\u306e\u3088\u3046\u306b\u5f37\u304f\u54b3\u304c\u3067\u304d\u306a\u3044\u306e\u3067\u3001\u75f0\u304c\u80ba\u306b\u6b8b\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<br><em>&#8211; 2\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"265\" height=\"402\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-j.jpg\" alt=\"\" class=\"wp-image-18155\"\/><figcaption class=\"wp-element-caption\">3\u6b73<\/figcaption><\/figure><\/div><\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\"><div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%81%B4%E8%A6%9A\"><\/span>\u8074\u899a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8033\u611f\u67d3\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6709\u3059\u308b\u5c0f\u5150\u3092\u542b\u3081\u3001\u5e7c\u5150\u306b\u3088\u304f\u307f\u3089\u308c\u308b\u3002 \u533b\u5b66\u6587\u732e(Brunetti-Pierri 2008)\u3067\u306f24\u4eba\u306b1\u4eba\u3001Unique\u30e1\u30f3\u30d0\u30fc9\u4eba\u306b2\u4eba\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u3044\u305a\u308c\u3082\u9f13\u819c\u306e\u4e21\u5074\u306b\u5727\u529b\u3092\u7b49\u3057\u304f\u3059\u308b\u305f\u3081\u306b\u30c1\u30e5\u30fc\u30d6(\u30b0\u30ed\u30e1\u30c3\u30c8)\u3092\u633f\u5165\u3057\u3066\u3044\u305f\u3002 \u3069\u3061\u3089\u306e\u5c0f\u5150\u3082\u6c38\u7d9a\u7684\u306a\u96e3\u8074\u306f\u306a\u304b\u3063\u305f\u304c\u30011\u4eba\u306f\u611f\u899a\u969c\u5bb3\u3092\u6709\u3057\u3001\u5927\u304d\u306a\u97f3\u306b\u904e\u654f\u3067\u3001\u904e\u9177\u306a\u97f3(\u30e6\u30cb\u30fc\u30af)\u3092\u6050\u308c\u305f\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A6%96%E8%A6%9A\"><\/span>\u8996\u899a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u533b\u5b66\u6587\u732e\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b35\u4eba\u306e\u3046\u3061\u30014\u4eba\u304c\u8996\u529b\u969c\u5bb3\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u305d\u306e\u30bf\u30a4\u30d7\u306f\u3055\u307e\u3056\u307e\u3067\u3059\u30021\u4eba\u306f\u56de\u8ee2\u773c\u632f\uff08\u76ee\u304c\u5186\u3092\u63cf\u304f\u3088\u3046\u306b\u4e0d\u968f\u610f\u306b\u52d5\u304f\uff09\u30011\u4eba\u306f\u659c\u8996\u30011\u4eba\u306f\u767d\u5185\u969c\uff08\u6c34\u6676\u4f53\u306e\u6fc1\u308a\uff09\u30011\u4eba\u306f\u773c\u5727\u4e0a\u6607\uff08\u7dd1\u5185\u969c\uff09\u3067\u3059\uff08Brunetti-Pierri 2008; Mefford 2008\uff09\u3002\u30e6\u30cb\u30fc\u30af\u306e\u30e1\u30f3\u30d0\u30fc\u3067\u306f\u300120\u4ee3\u534a\u3070\u3067\u9060\u8996\u3067\u3042\u308b\u3053\u3068\u306b\u6c17\u3065\u3044\u305f\u5927\u4eba1\u4eba\u306e\u4ed6\u306b\u306f\u3001\u4e21\u76ee\u306b\u4e71\u8996\u304c\u3042\u308a\u3001\u3044\u3064\u3082\u3068\u9055\u3046\u59ff\u52e2\u3067\u89b3\u5bdf\u3057\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u5b50\u4f9b\u304c\u3044\u305f\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u751f\u307e\u308c\u305f\u6642\u3082\u3001\u305d\u306e\u5f8c\u306e\u6570\u304b\u6708\u9593\u3082\u3001\u5f7c\u306f\u79c1\u305f\u3061\u3092\u307e\u3063\u3059\u3050\u306b\u898b\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002<br>\u76ee\u3067\u79c1\u305f\u3061\u3092\u8ffd\u3046\u3053\u3068\u3082\u3067\u304d\u307e\u305b\u3093\u3067\u3057\u305f\u300210\u9031\u76ee\u306b\u773c\u79d1\u3092\u53d7\u8a3a\u3057\u307e\u3057\u305f\u304c\u3001\u539f\u56e0\u306f\u308f\u304b\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u521d\u3081\u3066\u79c1\u305f\u3061\u306e\u9854\u3092\u898b\u305f\u306e\u306f5\u304b\u6708\u4ee5\u4e0a\u524d\u306e\u3053\u3068\u3067\u3057\u305f\u3002<\/p>\n<\/blockquote>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9D%A1%E7%9C%A0\"><\/span>\u7761\u7720<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"389\" height=\"292\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-k.jpg\" alt=\"\" class=\"wp-image-18157\"\/><figcaption class=\"wp-element-caption\">4\u304b\u6708\u9f62<\/figcaption><\/figure><\/div>\n\n\n<p>\u30e6\u30cb\u30fc\u30af\u30e1\u30f3\u30d0\u30fc\u306e10\u4eba\u4e2d5\u4eba\u304c\u3001\u7761\u7720\u306b\u95a2\u3057\u3066\u4f55\u3089\u304b\u306e\u56f0\u96e3\u3092\u62b1\u3048\u3066\u3044\u308b\u3068\u5831\u544a\u3057\u3066\u3044\u307e\u3059\u3002\u3042\u308b\u8d64\u3061\u3083\u3093\u306f\u6700\u521d\u306e4\u304b\u6708\u9593\u3001\u5bdd\u304b\u3057\u3064\u3051\u308b\u306e\u304c\u3068\u3066\u3082\u5927\u5909\u3067\u3057\u305f\u3002\u3042\u308b\u5b50\u4f9b\u306f\u3068\u3066\u3082\u843d\u3061\u7740\u304d\u304c\u306a\u304f\u30016\u6b73\u306b\u306a\u3063\u3066\u3082\u5bdd\u3066\u3044\u308b\u9593\u306b\u7d76\u3048\u305a\u52d5\u3044\u3066\u3044\u307e\u3059\u3002\u3042\u308b\u5b50\u4f9b\u306f\u5bdd\u304b\u3057\u3064\u3051\u308b\u306e\u304c\u96e3\u3057\u304f\u3001\u591c\u4e2d\u306b\u76ee\u304c\u899a\u3081\u3066\u3057\u307e\u3044\u307e\u3059\u304c\u3001\u30b5\u30a6\u30f3\u30c9\u30de\u30b7\u30f3\u3092\u4f7f\u3063\u3066\u5bdd\u3066\u3044\u307e\u3059\u3002\u3042\u308b\u5b50\u4f9b\u306f\u6bce\u66692-3\u6642\u304b\u30896\u6642\u9803\u307e\u3067\u8d77\u304d\u3066\u3044\u307e\u3059\u3002\u305d\u3057\u3066\u3042\u308b\u5b50\u4f9b\u306f\u843d\u3061\u7740\u304d\u304c\u306a\u304f\u3001\u307b\u3068\u3093\u3069\u7761\u7720\u3092\u5fc5\u8981\u3068\u3057\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3064\u5b50\u3069\u3082\u304c\u3001\u4ed6\u306e\u5b50\u3069\u3082\u3088\u308a\u3082\u7761\u7720\u969c\u5bb3\u304c\u5927\u304d\u3044\u306e\u304b\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u306b\u95a2\u9023\u3057\u305f\u7761\u7720\u969c\u5bb3\u306e\u30d1\u30bf\u30fc\u30f3\u304c\u3042\u308b\u306e\u304b\u306f\u3001\u307e\u3060\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u307e\u305b\u3093\uff08\u30e6\u30cb\u30fc\u30af\uff09\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AD%A6%E7%BF%92\"><\/span>\u5b66\u7fd2<br>\f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"294\" height=\"392\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-l.jpg\" alt=\"\" class=\"wp-image-18159\"\/><figcaption class=\"wp-element-caption\">2\u6b73<\/figcaption><\/figure><\/div>\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3064\u4eba\u306e\u3046\u3061\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/learning-disabilities-genetics-support\/\">\u5b66\u7fd2\u969c\u5bb3<\/a>\u306e\u305f\u3081\u306b\u5b66\u7fd2\u306b\u7279\u5225\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u5fc5\u8981\u3068\u3059\u308b\u4eba\u3067\u306f\u300111\u4eba\u4e2d8\u4eba\u304c\u5c11\u306a\u304f\u3068\u3082\u8efd\u5ea6\u307e\u305f\u306f\u4e2d\u7a0b\u5ea6\u306e\u56f0\u96e3\u3055\u3067\u3042\u308b\u3068\u8ff0\u3079\u3066\u3044\u308b(Meford 2008)\u3002Unique\u306e\u7d4c\u9a13\u306f\u3053\u308c\u3092\u53cd\u6620\u3057\u3066\u304a\u308a\u3001\u30e1\u30f3\u30d0\u30fc\u306e\u80fd\u529b\u306f\u975e\u5e38\u306b\u591a\u5c90\u306b\u308f\u305f\u3063\u3066\u3044\u308b\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3064\u3042\u308b\u5927\u4eba\u306f\u81ea\u5206\u306e\u30d3\u30b8\u30cd\u30b9\u3092\u7d4c\u55b6\u3057\u3066\u304a\u308a\u3001\u5225\u306e\u4eba\u306f\u4fee\u58eb\u53f7\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002\u5b50\u4f9b\u305f\u3061\u306e\u9593\u3067\u306f\u3001\u5b66\u7fd2\u3078\u306e\u5f71\u97ff\u306f\u975e\u5e38\u306b\u591a\u69d8\u3067\u3042\u308b\u3002\u4ee5\u4e0b\u306e\u30b3\u30e1\u30f3\u30c8\u306f\u3001\u3053\u306e\u8c4a\u5bcc\u306a\u30d0\u30e9\u30a8\u30c6\u30a3\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5f7c\u5973\u306f\u8a18\u61b6\u529b\u304c\u3088\u304f\u3001\u4e00\u8cab\u3057\u305f\u30a2\u30d7\u30ed\u30fc\u30c1\u3067\u6700\u3082\u3088\u304f\u5b66\u7fd2\u3057\u307e\u3059\u3002\u672c\u3092\u898b\u307e\u3059\u304c\u3001\u307e\u3060\u8aad\u3080\u3053\u3068\u306f\u3067\u304d\u305a\u3001\u30da\u30f3\u3092\u6301\u3064\u3068\u8d70\u308a\u66f8\u304d\u3092\u3057\u307e\u3059\u3002<em>&#8211; 2\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u79c1\u305f\u3061\u306f\u3001\u5f7c\u304c\u5b66\u7fd2\u56f0\u96e3\u3084\u969c\u5bb3\u3092\u6301\u3063\u3066\u3044\u308b\u3068\u306f\u8003\u3048\u3066\u3044\u307e\u305b\u3093\u3002\u5f7c\u306f\u97f3\u697d\u3092\u8074\u304f\u306e\u304c\u3068\u3066\u3082\u4e0a\u624b\u3067\u3001\u6b4c\u3046\u3053\u3068\u3092\u3068\u3066\u3082\u697d\u3057\u3093\u3067\u3044\u307e\u3059\u3002\u5f7c\u306f50\u30d4\u30fc\u30b9\u306e\u30d1\u30ba\u30eb\u3092\u4e00\u4eba\u3067\u89e3\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u304a\u307e\u307e\u3054\u3068\u3084\u7d75\u306e\u5177\u306e\u3088\u3046\u306b\u624b\u304c\u6c5a\u308c\u308b\u3082\u306e\u306f\u597d\u304d\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u304a\u3082\u3061\u3083\u306e\u8eca\u3084\u672c\u7269\u306e\u8eca\u306b\u5922\u4e2d\u3067\u3001\u3044\u304f\u3064\u304b\u306e\u30e1\u30fc\u30ab\u30fc\u3092\u77e5\u3063\u3066\u3044\u3066\u3001\u305d\u308c\u3092\u6307\u3057\u793a\u3057\u307e\u3059\u3002\u304a\u3082\u3061\u3083\u306e\u8eca\u3067\u904a\u3093\u3067\u3044\u3066\u3001\u8eca\u8f2a\u304c\u56de\u3063\u3066\u3044\u308b\u306e\u3092\u898b\u308b\u3068\u3001\u3068\u3066\u3082\u8208\u596e\u3057\u307e\u3059\u3002\u8a18\u61b6\u529b\u306f\u666e\u901a\u3067\u3001\u65b0\u3057\u3044\u3053\u3068\u3092\u5b66\u3076\u306e\u304c\u597d\u304d\u3067\u3059\u3002\u5f7c\u306f\u7d75\u3092\u63cf\u304f\u306e\u304c\u597d\u304d\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u63cf\u304f\u3068\u925b\u7b46\u3067\u5f15\u3063\u63bb\u304d\u307e\u3059\u3002\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u30fc\u3092\u4f7f\u3046\u306b\u306f\u307e\u3060\u65e9\u3044\u3067\u3059\u304c\u3001\u554f\u984c\u306f\u306a\u3044\u3068\u601d\u3044\u307e\u3059\u3002\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u306e\u554f\u984c\u3092\u62b1\u3048\u308b\u5b50\u3069\u3082\u305f\u3061\u306e\u305f\u3081\u306e\u7279\u5225\u306a\u5b66\u6821\u306b\u901a\u3046\u3053\u3068\u306b\u306a\u308b\u3002<br><em> &#8211; 3\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u8a18\u61b6\u529b\u306f\u629c\u7fa4\u3067\u3001\u6b4c\u306e\u6b4c\u8a5e\u3092\u899a\u3048\u3066\u3044\u307e\u3059\u304c\u3001\u81ea\u5206\u306e\u540d\u524d\u3092\u8a00\u308f\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u30ec\u30b9\u30c8\u30e9\u30f3\u306e\u524d\u3092\u901a\u308a\u304b\u304b\u308b\u3068\u3001\u30db\u30c3\u30c8\u30c9\u30c3\u30b0\u3084\u30c1\u30ad\u30f3\u306a\u3069\u3001\u81ea\u5206\u306e\u98df\u3079\u305f\u3044\u3082\u306e\u3084\u305d\u3053\u3067\u98df\u3079\u305f\u3082\u306e\u3092\u53e3\u306b\u3057\u307e\u3059\u3002\u97f3\u697d\u306f\u3082\u3063\u3068\u5f97\u610f\u306a\u5206\u91ce\u3067\u3059\u3002\u6b63\u76f4\u306a\u3068\u3053\u308d\u3001\u5f7c\u306f\u6020\u3051\u8005\u3067\u3059\u3002\u5b66\u7fd2\u3057\u3066\u3044\u308b\u3053\u3068\u306b\u8208\u5473\u304c\u306a\u3051\u308c\u3070\u3001\u53c2\u52a0\u3057\u307e\u305b\u3093\u3002\u5f7c\u306f\u3044\u3064\u3082\u672c\u3092\u300c\u8aad\u3093\u3067\u300d\u3044\u307e\u3059\u3002\u7d75\u3092\u898b\u3066\u3001\u305d\u306e\u672c\u306b\u3064\u3044\u3066\u304a\u3057\u3083\u3079\u308a\u3057\u3066\u3044\u307e\u3059\u3002\u7d75\u3092\u63cf\u3044\u305f\u308a\u3001\u8272\u3092\u5857\u3063\u305f\u308a\u3059\u308b\u306e\u306f\u5acc\u3044\u3067\u3059\u3002\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u30fc\u306b\u306f\u8208\u5473\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u30ad\u30fc\u30dc\u30fc\u30c9\u306b\u306f\u8208\u5473\u304c\u3042\u308a\u307e\u305b\u3093\u3002\u5f7c\u306f\u5927\u4eba\u306e\u30de\u30a6\u30b9\u306b\u624b\u3092\u7f6e\u3044\u3066\u30dc\u30bf\u30f3\u3092\u30af\u30ea\u30c3\u30af\u3057\u307e\u3059\u3002\u7279\u5225\u652f\u63f4\u6559\u80b2\u3092\u53d7\u3051\u305f\u5e7c\u7a1a\u5712\u306b\u901a\u3044\u3001\u7279\u5225\u652f\u63f4\u6559\u80b2\u306e\u6559\u5e2b\u306b\u3088\u308b\u5b66\u7fd2\u652f\u63f4\u3092\u53d7\u3051\u3066\u3044\u308b\u3002<br><em> &#8211; 3\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u5f7c\u5973\u306f10\u307e\u3067\u6570\u3048\u3089\u308c\u307e\u3059\u304c\u3001\u8aad\u3081\u307e\u305b\u3093\u3002\u81ea\u5206\u306e\u540d\u524d\u3092\u66f8\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5b66\u6821\u3067\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u30fc\u3092\u4f7f\u3046\u306e\u304c\u597d\u304d\u3067\u3059\u3002\u4e3b\u6d41\u306e\u5b66\u6821\u3067\u8a00\u8a9e\u30d7\u30ed\u30b0\u30e9\u30e0\u306b\u53c2\u52a0\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u5225\u306a\u6559\u80b2\u5fc5\u8981\u6027\u306e\u58f0\u660e\u306f\u6301\u3063\u3066\u3044\u307e\u305b\u3093\u3002<br><em> &#8211; 5\u6b73\u534a<\/em><\/p>\n<\/blockquote>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%B3%E3%83%9F%E3%83%A5%E3%83%8B%E3%82%B1%E3%83%BC%E3%82%B7%E3%83%A7%E3%83%B3\"><\/span>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"660\" height=\"1000\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-m.jpg\" alt=\"\" class=\"wp-image-18161\"\/><figcaption class=\"wp-element-caption\">3\u6b73\u534a<\/figcaption><\/figure><\/div>\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p><br>\u533b\u5b66\u6587\u732e\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u91cd\u8907<\/a>(Brunetti-Pierri 2008)\u306e\u5c0f\u5150\u306b\u304a\u3051\u308b\u9045\u767a\u6027\u8a00\u8a9e\u80fd\u529b\u306e24\u4f8b\u4e2d3\u4f8b\u306e\u5831\u544a\u304c\u3042\u308b\u3002 \u56fa\u6709\u306e\u30e1\u30f3\u30d0\u30fc\u306e\u9593\u3067\u306f\u3001\u767a\u8a71\u3068\u8a00\u8a9e\u306e\u9045\u5ef6\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u306b\u8d77\u56e0\u3059\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u975e\u5e38\u306b\u5fae\u5999\u306a\u5fb4\u5019\u3057\u304b\u793a\u3055\u306a\u3044\u6210\u4eba\u306b\u304a\u3044\u3066\u3055\u3048\u3001\u4e00\u8cab\u3057\u305f\u6240\u898b\u3067\u3042\u308b\u3002 \u983b\u7e41\u306a\u30c6\u30fc\u30de\u306f\u3001\u8a00\u8a9e\u3067\u8868\u73fe\u3059\u308b\u80fd\u529b\u3088\u308a\u3082\u7406\u89e3\u304c\u826f\u304f\u3001\u8a00\u8a9e\u306e\u97f3\u58f0\u306b\u306f\u660e\u77ad\u3055\u304c\u6b20\u3051\u3066\u3044\u308b\u3002 \u3042\u308b\u5b50\u3069\u3082\u306f\u3001\u6700\u521d\u306f\u624b\u8a71\u3067\u81ea\u5206\u306e\u30cb\u30fc\u30ba\u3092\u3046\u307e\u304f\u4f1d\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u3001\u5b50\u3069\u3082\u6642\u4ee3\u4e2d\u9803\u306b\u8a71\u3057\u3001\u9752\u5e74\u671f\u306b\u306f\u6d41\u52d5\u7684\u306a\u8a71\u3057\u65b9\u3092\u3059\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3002 \u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u306b\u7126\u70b9\u3092\u5f53\u3066\u3001\u97f3\u58f0\u30fb\u8a00\u8a9e\u5358\u4f4d\u3067\u6559\u80b2\u3092\u53d7\u3051\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ee5\u4e0b\u306e\u8aac\u660e\u306f\u3001\u4f8b\u793a\u7684\u306a\u3082\u306e\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u58f0\u3092\u51fa\u3057\u3066\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u3068\u308b\u3002<br><em> &#8211; 5\u304b\u6708<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u624b\u8a71\u3001\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u3001\u6307\u5dee\u3057\u3001\u5f15\u3063\u5f35\u308a\u3001\u97f3\u306a\u3069\u3067\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u3068\u308a\u307e\u3059\u304c\u3001\u3059\u3079\u3066\u306e\u97f3\u58f0\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u3002<br><em> &#8211; 2\u6b735\u304b\u6708<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u8a71\u305d\u3046\u3068\u3057\u307e\u3059\u304c\u3001\u610f\u5473\u304c\u306f\u3063\u304d\u308a\u3057\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8133\u3067\u8003\u3048\u3066\u3044\u308b\u3053\u3068\u3068\u3001\u53e3\u3067\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u306e\u9593\u306b\u554f\u984c\u304c\u3042\u308a\u307e\u3059\u3002\u8a00\u8a9e\u7642\u6cd5\u58eb\u304c\u884c\u3063\u305f\u30c6\u30b9\u30c8\u306b\u3088\u308b\u3068\u3001\u5f7c\u306f\u79c1\u305f\u3061\u306b\u8a71\u3057\u305f\u308a\u3001\u660e\u78ba\u306b\u8aac\u660e\u3057\u305f\u308a\u3059\u308b\u3088\u308a\u3082\u591a\u304f\u306e\u3053\u3068\u3092\u7406\u89e3\u3057\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u79c1\u305f\u3061\u306f\u300c\u306f\u3044\u300d\u300c\u3044\u3044\u3048\u300d\u3067\u7b54\u3048\u308b\u8cea\u554f\u3092\u591a\u7528\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u306e6\u304b\u6708\u9593\u3001\u79c1\u305f\u3061\u306f\u624b\u4fe1\u53f7\u3068\u7d75\u6587\u5b57\u3092\u4f7f\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u5f7c\u306e\u8a00\u3044\u305f\u3044\u3053\u3068\u304c\u7406\u89e3\u3067\u304d\u306a\u3044\u3068\u3001\u5f7c\u306f\u60b2\u3057\u307f\u3001\u6642\u306b\u306f\u6012\u308a\u307e\u3059\u3002\u5f7c\u306e\u8a71\u3057\u58f0\u306f\u975e\u5e38\u306b\u30bd\u30d5\u30c8\u3067\u4e0d\u660e\u77ad\u3067\u3001\u4f55\u304b\u3092\u3082\u3046\u4e00\u5ea6\u8a00\u3063\u3066\u304f\u308c\u3068\u8a00\u3046\u3068\u5b8c\u5168\u306b\u9ed9\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u30021\u6b73\u306e\u8a95\u751f\u65e5\u9803\u306b\u6700\u521d\u306e\u8a00\u8449\u3092\u8a71\u3057\u3001\u73fe\u5728\u306f2\uff5e3\u8a9e\u306e\u30d5\u30ec\u30fc\u30ba\u3092\u4f7f\u3044\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u8a00\u8449\u304c\u540c\u3058\u3088\u3046\u306b\u805e\u3053\u3048\u307e\u3059\u3002<em> &#8211; 3\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u624b\u3092\u63e1\u3063\u3066\u6b32\u3057\u3044\u3082\u306e\u3092\u89e6\u308b\u306a\u3069\u3001\u624b\u3092\u4f7f\u3063\u3066\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u3068\u308a\u307e\u3059\u30022\u6b73\u534a\u3067\u8a00\u8449\u3092\u4f7f\u3044\u59cb\u3081\u3001\u81ea\u5206\u306e\u6b32\u3057\u3044\u3082\u306e\u30921\u3064\u306e\u5358\u8a9e\u3067\u8868\u73fe\u3057\u307e\u3057\u305f\u3002\u4eca\u3067\u306f\u30011\uff5e3\u8a9e\u306e\u30d5\u30ec\u30fc\u30ba\u3092\u4f7f\u3044\u307e\u3059\u304c\u3001\u307b\u3068\u3093\u3069\u306e\u97f3\u306f\u306f\u3063\u304d\u308a\u3057\u307e\u305b\u3093\u3002\u3088\u304f\u3057\u3083\u3079\u308a\u307e\u3059\u304c\u3001\u8ab0\u3082\u7406\u89e3\u3067\u304d\u307e\u305b\u3093\u3002<br><em> &#8211; 3\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u77e5\u3089\u306a\u3044\u4eba\u306f\u5f7c\u5973\u3092\u7406\u89e3\u3059\u308b\u306e\u306b\u82e6\u52b4\u3057\u307e\u3059\u3002\u8868\u73fe\u529b\u306f\u3042\u308a\u307e\u3059\u304c\u3001\u53d7\u5bb9\u529b\u304c\u3042\u308a\u307e\u305b\u3093\u3002<br><em> &#8211; 5\u6b73\u534a<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u79c1\u306f\u8a00\u8a9e\u7642\u6cd5\u3092\u53d7\u3051\u3066\u3044\u307e\u305b\u3093\u3067\u3057\u305f\u304c\u3001\u8a71\u3057\u59cb\u3081\u308b\u306e\u304c\u5c11\u3057\u9045\u304b\u3063\u305f\u3067\u3059\u3002\u9577\u3044\u9593\u3001\u79c1\u306f\u81ea\u5206\u304c\u671b\u3080\u3082\u306e\u3059\u3079\u3066\u3092\u6307\u6458\u3057\u3066\u3044\u307e\u3057\u305f\u3002<br><em> &#8211; 1q21.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3064\u6210\u4eba<\/em><\/p>\n<\/blockquote>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A7%BB%E5%8B%95%E8%83%BD%E5%8A%9B\"><\/span>\u79fb\u52d5\u80fd\u529b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-9d6595d7 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"206\" height=\"288\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-n.jpg\" alt=\"\" class=\"wp-image-18163\"\/><figcaption class=\"wp-element-caption\">9\u304b\u6708\u9f62<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"294\" height=\"392\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-o.jpg\" alt=\"\" class=\"wp-image-18165\"\/><figcaption class=\"wp-element-caption\">27\u304b\u6708\u9f62<\/figcaption><\/figure><\/div><\/div>\n\n\n\n<div class=\"wp-block-column is-layout-flow wp-block-column-is-layout-flow\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"463\" height=\"703\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-p.jpg\" alt=\"\" class=\"wp-image-18167\"\/><figcaption class=\"wp-element-caption\">3\u6b73<\/figcaption><\/figure><\/div><\/div>\n<\/div>\n<\/div><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u304c\u79fb\u52d5\u80fd\u529b\u306b\u4e00\u8cab\u3057\u305f\u5f71\u97ff\u3092\u53ca\u307c\u3059\u304b\u3069\u3046\u304b\u3092\u77e5\u308b\u306e\u306f\u6642\u671f\u5c1a\u65e9\u3067\u3042\u308b\u304c\u3001\u73fe\u6642\u70b9\u3067\u306f\u305d\u3046\u3067\u306f\u306a\u3044\u3088\u3046\u3067\u3042\u308b\u3002 \u5b50\u4f9b\u304c\u8a3a\u65ad\u3055\u308c\u305f\u5f8c\u306b\u89aa\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6709\u3059\u308b\u3053\u3068\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u5bb6\u65cf\u3067\u306f\u3001\u305f\u3068\u3048\u5b50\u4f9b\u306e\u53ef\u52d5\u6027\u304c\u9045\u308c\u3066\u3044\u3066\u3082\u3001\u89aa\u306e\u53ef\u52d5\u6027\u306f\u901a\u5e38\u5f71\u97ff\u3092\u53d7\u3051\u307e\u305b\u3093\u3002<br>\u767a\u9054\u9045\u5ef6\u3092\u6709\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6709\u3059\u308b\u5c0f\u5150\u306f\u3001\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308b<br>\u5ea7\u3063\u305f\u308a\u52d5\u304d\u56de\u3063\u305f\u308a\u3068\u3044\u3063\u305f\u300c\u8d64\u3093\u574a\u300d\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u3092\u9054\u6210\u3059\u308b\u305f\u3081\u306e\u8ffd\u52a0\u7684\u306a\u652f\u63f4 \u7b4b\u7dca\u5f35\u304c\u4f4e\u3044(\u7b4b\u7dca\u5f35\u4f4e\u4e0b)\u5c0f\u5150\u306b\u306f\u7406\u5b66\u7642\u6cd5\u304c\u6709\u76ca\u3067\u3042\u308a\u3001\u3059\u3079\u3066\u306e\u5c0f\u5150\u306b\u306f\u7b4b\u529b\u3068\u6a5f\u654f\u6027\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u5b9a\u671f\u7684\u306a\u6bb5\u968e\u7684\u904b\u52d5\u304c\u6709\u76ca\u3067\u3042\u308b\u3002 \u767a\u9054\u9045\u6ede\u306e\u3042\u308b\u30e6\u30cb\u30fc\u30af\u306a\u30e1\u30f3\u30d0\u30fc\u306e\u4e2d\u3067\u3001\u4e73\u5150\u306f5\uff5e10\u304b\u6708\u306e\u9593\u306b\u30ed\u30fc\u30eb\u30aa\u30fc\u30d0\u30fc\u3059\u308b\u3053\u3068\u3092\u5b66\u3093\u3060\u3002 6~16\u304b\u6708\u306e\u9593\u306b\u5ea7\u308a\u30017~20\u304b\u6708\u306e\u9593\u306b\u79fb\u52d5(\u30b7\u30e3\u30d5\u30ea\u30f3\u30b0\u3001\u30af\u30ea\u30fc\u30d4\u30f3\u30b0\u3001\u30af\u30ed\u30fc\u30ea\u30f3\u30b0)\u3057\u300113~60\u304b\u6708\u306e\u9593\u306b\u6b69\u304f\u3053\u3068\u3092\u5b66\u3093\u3060\u3002 \u5b50\u3069\u3082\u305f\u3061\u306f1\u5e74\u534a\u304b\u30891\u5e74\u306e\u9593\u306b\u968e\u6bb5\u3092\u4e0a\u3063\u305f\u3002<br>3\u5e74\u9593<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u6700\u521d\u306b\u5ea7\u3063\u305f\u3068\u304d\u306f\u3001\u307e\u3063\u3059\u3050\u306b\u5ea7\u308b\u3053\u3068\u304c\u3067\u304d\u305a\u3001\u5c11\u3057\u30d7\u30ea\u30f3\u306e\u3088\u3046\u306b\u5ea7\u3063\u3066\u3044\u307e\u3057\u305f\u3002\u80f4\u4f53\u306e\u56de\u8ee2\u304c\u5236\u9650\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u30cf\u30a4\u30cf\u30a4\u306f\u975e\u5e38\u306b\u9045\u304f\u306a\u308a\u307e\u3057\u305f\u30021\u6b73\u306e\u8a95\u751f\u65e5\u306e\u9803\u306b\u306f\u3001\u304a\u5c3b\u3092\u3076\u3064\u3051\u305f\u308a\u3001\u8df3\u306d\u305f\u308a\u3057\u3066\u6ed1\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002<br>\u305d\u308c\u309223\u304b\u6708\u9803\u306b\u6b69\u3051\u308b\u3088\u3046\u306b\u306a\u308b\u307e\u3067\u7d9a\u3051\u307e\u3057\u305f\u3002\u73fe\u5728\u3001\u5f7c\u306f\u307b\u307c3\u6b73\u306e\u666e\u901a\u306e\u5b50\u4f9b\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002\u80f4\u4f53\u306e\u56de\u8ee2\u304c\u307e\u3060\u5236\u9650\u3055\u308c\u3066\u3044\u308b\u306e\u3067\u3001\u632f\u308a\u5411\u304f\u306e\u306b\u5c11\u3057\u6642\u9593\u304c\u304b\u304b\u308a\u307e\u3059\u3002\u30d0\u30e9\u30f3\u30b9\u306e\u554f\u984c\u3082\u3042\u308a\u307e\u3059\u3002\u7406\u5b66\u7642\u6cd5\u58eb\u306f\u3001\u5f7c\u306e\u4f53\u306e\u30d7\u30ed\u30dd\u30fc\u30b7\u30e7\u30f3\u304c\u308f\u305a\u304b\u306b\u975e\u5178\u578b\u7684\u306a\u305f\u3081\uff08\u982d\u304c\u5927\u304d\u304f\u3001\u8155\u304c\u77ed\u3044\uff09\u3001\u3088\u304f\u8ee2\u3076\u306e\u3060\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002\u5f7c\u306e\u8155\u306f\u53ef\u52d5\u6027\u304c\u4f4e\u3044\u306e\u3067\u3001\u8ee2\u3093\u3067\u3082\u306a\u304b\u306a\u304b\u5143\u306b\u623b\u3089\u305a\u3001\u9854\u304b\u3089\u843d\u3061\u3066\u3057\u307e\u3046\u3053\u3068\u304c\u591a\u3044\u306e\u3067\u3059\u3002\u9577\u8ddd\u96e2\u3092\u6b69\u304f\u3068\u304d\u306b\u306f\u7279\u5225\u306a\u30d0\u30ae\u30fc\u3092\u4f7f\u3044\u307e\u3059\u3002\u30d0\u30ae\u30fc\u306f\u307e\u3063\u3059\u3050\u5ea7\u308c\u308b\u3088\u3046\u306b\u4f5c\u3089\u308c\u3066\u3044\u3066\u3001\u8ee2\u3093\u3067\u3082\u75db\u304f\u306a\u3044\u3088\u3046\u306b\u30d8\u30eb\u30e1\u30c3\u30c8\u3092\u304b\u3076\u3063\u3066\u3044\u307e\u3059\u3002<br><em> &#8211; 2\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u611f\u899a\u51e6\u7406\u969c\u5bb3\u304c\u3042\u308b\u306e\u3067\u3001\u3044\u3064\u3082\u52d5\u3044\u305f\u308a\u8df3\u306d\u305f\u308a\u3057\u3066\u3044\u307e\u3059\u3002<br>\u767b\u3063\u305f\u308a\u3001\u30d6\u30e9\u30f3\u30b3\u306b\u4e57\u3063\u305f\u308a\u3059\u308b\u306e\u304c\u5927\u597d\u304d\u3067\u3059\u3002<br><em> &#8211; 3\u6b73<\/em><\/p>\n<\/blockquote>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>\u52d5\u304d\u304c\u901f\u304f\u3001\u3064\u307e\u305a\u3044\u305f\u308a\u8ee2\u3093\u3060\u308a\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u968e\u6bb5\u3092\u4f7f\u3046\u3053\u3068\u306b\u4e0d\u5b89\u3092\u611f\u3058\u3066\u3044\u307e\u3059\u3002<br><em> &#8211; \u3082\u3046\u3059\u30506\u6b73<\/em><\/p>\n<\/blockquote>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E3%80%811q211%E3%81%AE%E9%83%A8%E5%88%86%E9%87%8D%E8%A4%87%E3%82%92%E3%82%82%E3%81%A4%E4%BA%BA%E3%80%85%E3%81%AF%E4%BA%92%E3%81%84%E3%81%AB%E3%81%9D%E3%82%8C%E3%81%BB%E3%81%A9%E7%95%B0%E3%81%AA%E3%81%A3%E3%81%A6%E3%81%84%E3%82%8B%E3%81%AE%E3%81%A0%E3%82%8D%E3%81%86%E3%81%8B%E3%80%82\"><\/span>\u306a\u305c\u30011q21.1\u306e\u90e8\u5206\u91cd\u8907\u3092\u3082\u3064\u4eba\u3005\u306f\u4e92\u3044\u306b\u305d\u308c\u307b\u3069\u7570\u306a\u3063\u3066\u3044\u308b\u306e\u3060\u308d\u3046\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u79c1\u305f\u3061\u306f\u307e\u3060\u3053\u308c\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3066\u3044\u307e\u305b\u3093\u3002 \u4e00\u8cab\u3057\u305f\u5dee\u7570\u306f\u307e\u3060\u691c\u51fa\u3055\u308c\u3066\u3044\u306a\u3044<br>\u5927\u304d\u3055\u306e\u7570\u306a\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u3082\u3064\u4eba\u3068\u3001\u540c\u3058\u5bb6\u65cf\u306b\u540c\u3058\u5927\u304d\u3055\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u3082\u3064\u4eba\u306f\u3001\u975e\u5e38\u306b\u7570\u306a\u308b\u7279\u5fb4\u3092\u3082\u3064\u3053\u3068\u304c\u3042\u308b\u3002<br>\u4e0d\u78ba\u5b9f\u6027\u306e1\u3064\u306e\u7406\u7531\u306f\u3001\u7b2c1\u67d3\u8272\u4f53\u306e1q21.1\u30d0\u30f3\u30c9\u304c\u975e\u5e38\u306b\u8907\u96d1\u306a\u69cb\u9020\u3092\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u6b63\u78ba\u306aDNA\u914d\u5217\u304c\u5b8c\u5168\u306b\u30de\u30c3\u30d7\u3055\u308c\u3066\u3044\u306a\u3044\u3053\u3068\u3067\u3042\u308b\u3002 \u5730\u56f3\u4e0a\u306b\u306f\u307e\u306015\u306e\u30ae\u30e3\u30c3\u30d7\u304c\u3042\u308a\u3001\u3053\u308c\u3089\u306e\u30ae\u30e3\u30c3\u30d7\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u306e\u5f71\u97ff\u306b\u5bc4\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002 \u3055\u3089\u306b\u3001\u79c1\u305f\u3061\u304c\u307e\u3060\u7406\u89e3\u3057\u3066\u3044\u306a\u3044\u304c\u91cd\u8981\u306a\u907a\u4f1d\u7684\u8981\u56e0\u3084\u74b0\u5883\u8981\u56e0\u3082\u3042\u308b\u3068\u601d\u308f\u308c\u307e\u3059\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\"><div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%AA%E3%81%9C%E3%80%811q211%E3%81%AE%E9%83%A8%E5%88%86%E9%87%8D%E8%A4%87%E3%82%92%E8%AA%BF%E3%81%B9%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span>\u306a\u305c\u30011q21.1\u306e\u90e8\u5206\u91cd\u8907\u3092\u8abf\u3079\u308b\u306e\u304b?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"294\" height=\"392\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-q.jpg\" alt=\"\" class=\"wp-image-18169\"\/><\/figure><\/div>\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u8d64\u3061\u3083\u3093\u3084\u5b50\u4f9b\u305f\u3061\u306f\u3001\u5c0f\u5150\u79d1\u533b\u3084\u5c02\u9580\u533b\u304c\u67d3\u8272\u4f53\u306b\u554f\u984c\u304c\u3042\u308b\u306e\u3067\u306f\u306a\u3044\u304b\u3068\u8003\u3048\u3066\u691c\u67fb\u3092\u53d7\u3051\u307e\u3059\u3002<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u306f\u3001\u75c7\u72b6\u3092\u8aac\u660e\u3059\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u95a2\u4fc2\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u304c\u3069\u306e\u3088\u3046\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u306e\u304b\u306f\u3001\u3088\u308a\u591a\u304f\u306e\u4eba\u304c\u8a3a\u65ad\u3092\u53d7\u3051\u308b\u307e\u3067\u308f\u304b\u308a\u307e\u305b\u3093\u3002<br>\u30e6\u30cb\u30fc\u30af\u306e\u30e1\u30f3\u30d0\u30fc\u306e\u4e2d\u306b\u306f\u3001\u982d\u84cb\u9aa8\u7652\u5408\u75c7\uff08\u982d\u84cb\u9aa8\u3092\u5f62\u6210\u3059\u308b\u9aa8\u677f\u306e\u4e00\u90e8\u304c\u65e9\u671f\u306b\u7652\u5408\u3059\u308b\uff09\u306e\u305f\u3081\u306b\u8abf\u67fb\u3092\u53d7\u3051\u305f\u8d64\u3061\u3083\u3093\u304c2\u4eba\u3044\u307e\u3057\u305f\u30021\u4eba\u306e\u30b1\u30fc\u30b9\u3067\u306f\u3001\u305d\u306e\u5f8c\u306e\u767a\u9054\u306b\u5f71\u97ff\u306f\u306a\u304f\u3001\u982d\u84cb\u9aa8\u7652\u5408\u75c7\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u306b\u8d77\u56e0\u3059\u308b\u3082\u306e\u3067\u306f\u306a\u3044\u3068\u3055\u308c\u305f\u3002\u3082\u3046\u4e00\u4eba\u306e\u75c7\u4f8b\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u306e\u5bc4\u4e0e\u306f\u4e0d\u660e\u3067\u3042\u308b\u30021\u4eba\u306e\u5b50\u3069\u3082\u306f6\u6b73\u3067\u767a\u4f5c\u3092\u767a\u75c7\u3057\u307e\u3057\u305f\u30024\u4eba\u306e\u5b50\u3069\u3082\u306b\u306f\u767a\u9054\u969c\u5bb3\u304c\u3042\u308a\u3001\u305d\u306e\u3046\u3061\u306e1\u4eba\u306f\u73cd\u3057\u3044\u9854\u7acb\u3061\u3092\u3057\u3066\u3044\u307e\u3057\u305f\u3002\u3082\u30461\u4eba\u306f\u810a\u690e\u306e\u6e7e\u66f2\u304c\u3042\u308a\u300118\u304b\u6708\u3067\u767a\u4f5c\u3092\u767a\u75c7\u3057\u307e\u3057\u305f\u3002\u3082\u30461\u4eba\u306f\u51fa\u751f\u6642\u306b\u975e\u5e38\u306b\u8db3\u304c\u4e0d\u81ea\u7531\u3067\u3057\u305f\u304c\u3001\u5fc3\u81d3\u306b\u554f\u984c\u306f\u3042\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u30027\u4eba\u306e\u3046\u30614\u4eba\u306f\u3001\u305d\u308c\u307e\u3067\u81ea\u5206\u306e\u67d3\u8272\u4f53\u306b\u7570\u5e38\u304c\u3042\u308b\u3068\u306f\u601d\u308f\u306a\u304b\u3063\u305f\u7236\u89aa\u307e\u305f\u306f\u6bcd\u89aa\u304b\u3089<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u53d7\u3051\u7d99\u3044\u3067\u3044\u307e\u3057\u305f\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%82%8C%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AB%E3%81%97%E3%81%A6%E8%B5%B7%E3%81%93%E3%81%A3%E3%81%9F%E3%81%AE%E3%81%A0%E3%82%8D%E3%81%86%E3%81%8B%E3%80%82\"><\/span>\u3053\u308c\u306f\u3069\u306e\u3088\u3046\u306b\u3057\u3066\u8d77\u3053\u3063\u305f\u306e\u3060\u308d\u3046\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u306f\u3001\u660e\u3089\u304b\u306a\u7406\u7531\u306a\u304f\u7a81\u7136\u767a\u751f\u3059\u308b\u3053\u3068\u3082\u3042\u308c\u3070\u3001\u6bcd\u89aa\u304b\u7236\u89aa\u306e\u3069\u3061\u3089\u304b\u304b\u3089\u907a\u4f1d\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u78ba\u4fe1\u3092\u6301\u3064\u305f\u3081\u306b\u306f\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u3092\u30c1\u30a7\u30c3\u30af\u3059\u308b\u3057\u304b\u3042\u308a\u307e\u305b\u3093\u3002\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u3092\u30c1\u30a7\u30c3\u30af\u3059\u308b\u3053\u3068\u306f\u3001\u4e21\u89aa\u81ea\u8eab\u304c\u5168\u304f\u5065\u5eb7\u3067\u3001\u767a\u9054\u4e0a\u306e\u554f\u984c\u304c\u5168\u304f\u306a\u3044\u5834\u5408\u306b\u3082\u5fc5\u8981\u3067\u3059\u3002<br>\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u540c\u3058<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3063\u3066\u3044\u308c\u3070\u3001\u305d\u308c\u306f\u307b\u307c\u78ba\u5b9f\u306b\u907a\u4f1d\u3057\u3066\u3044\u307e\u3059\u3002<br>\u4e21\u89aa\u3068\u3082\u306b\u6b63\u5e38\u306a\u67d3\u8272\u4f53\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u306f\u65b0\u305f\u306b\u767a\u751f\u3057\u305f\u3082\u306e\u3067\u3059\u3002\u3053\u308c\u3092\u907a\u4f1d\u7528\u8a9e\u3067\u306fde novo\uff08dn\uff09\u3068\u547c\u3076\u3002\u65b0\u3057\u3044<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u306f\u3001\u4e21\u89aa\u306e\u7cbe\u5b50\u307e\u305f\u306f\u5375\u7d30\u80de\u304c\u5f62\u6210\u3055\u308c\u305f\u3068\u304d\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u3054\u304f\u521d\u671f\u306b\u767a\u751f\u3057\u305f\u30df\u30b9\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u305f\u3082\u306e\u3067\u3059\u3002\u89aa\u3068\u3057\u3066\u306f\u3001\u3053\u308c\u3092\u5909\u3048\u305f\u308a\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<br>\u8a00\u3044\u63db\u3048\u308c\u3070\u3001\u4e21\u89aa\u304c\u598a\u5a20\u524d\u307e\u305f\u306f\u598a\u5a20\u4e2d\u306b\u884c\u3063\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u306e\u539f\u56e0\u3068\u306a\u308b\u884c\u70ba\u306f\u4f55\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"695\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-r-1024x695.png\" alt=\"\" class=\"wp-image-18171\"\/><\/figure><\/div>\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u5375\u5b50\u3068\u7cbe\u5b50\u7d30\u80de\u306e\u767a\u751f\u306e\u4e00\u6642\u70b9\u3067\u30012\u672c\u306e\u7b2c1\u67d3\u8272\u4f53\u3092\u542b\u3080\u3059\u3079\u3066\u306e\u67d3\u8272\u4f53\u304c\u5bfe\u5408\u3057\u3001\u4f53\u7bc0\u3092\u4ea4\u63db\u3059\u308b\u3002 \u6b63\u78ba\u306b\u5bfe\u5408\u3057\u3001\u4ea4\u63db\u3055\u308c\u305f\u65ad\u7247\u304c\u7b49\u3057\u304f\u306a\u308b\u3088\u3046\u306b\u3059\u308b\u305f\u3081\u306b\u3001\u5404\u67d3\u8272\u4f53\u306f\u3001\u76f8\u624b\u306e\u67d3\u8272\u4f53\u4e0a\u306e\u4e00\u81f4\u3057\u305f\u3001\u307e\u305f\u306f\u307b\u307c\u4e00\u81f4\u3057\u305fDNA\u914d\u5217\u3092\u300c\u8a8d\u8b58\u300d\u3059\u308b\u3002 \u3057\u304b\u3057\u3001\u67d3\u8272\u4f53\u5168\u4f53\u306b\u306f\u591a\u304f\u306eDNA\u914d\u5217\u304c\u985e\u4f3c\u3057\u3066\u304a\u308a\u3001\u8aa4\u5bfe\u5408\u304c\u8d77\u3053\u308a\u3046\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002 \u305d\u306e\u7d50\u679c\u3001\u4e0d\u5747\u7b49\u306a\u30b9\u30ef\u30c3\u30d4\u30f3\u30b0\u304c\u8d77\u3053\u308a\u3001\u6b20\u5931\u307e\u305f\u306f\u91cd\u8907\u304c\u751f\u3058\u308b\u3002<\/p>\n\n\n\n<p>1q21.1\u9818\u57df\u306f\u975e\u5e38\u306b\u8907\u96d1\u306a\u69cb\u9020\u3092\u3082\u3064\u3002 \u305d\u306e4\u5206\u306e3\u306f\u3001\u4e92\u3044\u306b90%\u4ee5\u4e0a\u306e\u985e\u4f3c\u6027\u3092\u3082\u3064\u5c11\u306a\u304f\u3068\u30824\u3064\u306eDNA\u30d6\u30ed\u30c3\u30af\u304b\u3089\u306a\u308b\u3002 \u3053\u308c\u3089\u306e\u975e\u5e38\u306b\u985e\u4f3c\u3057\u305f\u30d6\u30ed\u30c3\u30af\u304c\u8aa4\u5bfe\u5408\u3092\u5f15\u304d\u8d77\u3053\u3057\u305f\u53ef\u80fd\u6027\u304c\u975e\u5e38\u306b\u9ad8\u3044\u3002 \u7814\u7a76\u8005\u3089\u306f\u3001\u500b\u3005\u306e\u30d2\u30c8\u306e\u67d3\u8272\u4f53\u306e\u5207\u65ad\u70b9\u3092\u8abf\u3079\u305f\u3068\u3053\u308d\u3001\u3053\u308c\u3089\u306e\u307b\u307c\u4e00\u81f4\u3059\u308bDNA\u914d\u5217\u306e\u4e2d\u306b\u4f4d\u7f6e\u3059\u308b\u3053\u3068\u3092\u767a\u898b\u3057\u305f\u3002 \u307b\u3068\u3093\u3069\u306e\u4eba\u3067\u306f\u3001\u5207\u65ad\u70b9\u306f\u307b\u3068\u3093\u3069\u540c\u3058\u90e8\u5206\u306b\u751f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1q211%E3%81%AE%E9%83%A8%E5%88%86%E9%87%8D%E8%A4%87%E3%82%92%E6%9C%89%E3%81%99%E3%82%8B%E5%AE%B6%E7%B3%BB%E3%81%AE1%E4%BA%BA%E3%81%8C%E8%BB%BD%E5%BA%A6%E3%81%AE%E7%BD%B9%E6%82%A3%E3%81%A7%E3%81%82%E3%82%8B%E5%A0%B4%E5%90%88%E3%80%81%E5%90%8C%E3%81%98%E5%AE%B6%E7%B3%BB%E3%81%AE%E4%BB%96%E3%81%AE%E4%BA%BA%E3%82%82%E8%BB%BD%E5%BA%A6%E3%81%AE%E7%BD%B9%E6%82%A3%E3%81%A7%E3%81%82%E3%82%8D%E3%81%86%E3%81%8B\"><\/span>1q21.1\u306e\u90e8\u5206\u91cd\u8907\u3092\u6709\u3059\u308b\u5bb6\u7cfb\u306e1\u4eba\u304c\u8efd\u5ea6\u306e\u7f79\u60a3\u3067\u3042\u308b\u5834\u5408\u3001\u540c\u3058\u5bb6\u7cfb\u306e\u4ed6\u306e\u4eba\u3082\u8efd\u5ea6\u306e\u7f79\u60a3\u3067\u3042\u308d\u3046\u304b?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc5\u305a\u3057\u3082\u305d\u3046\u3067\u306f\u306a\u3044\u3002 \u540c\u3058\u5bb6\u7cfb\u306e\u30e1\u30f3\u30d0\u30fc\u9593\u306b\u306f\u591a\u304f\u306e\u9055\u3044\u304c\u3042\u308b\u3002<br>\u3042\u308b\u4eba\u304c\u8efd\u75c7\u3067\u3042\u308c\u3070\u3001\u4ed6\u306e\u4eba\u304c\u91cd\u75c7\u5316\u3057\u3001\u660e\u3089\u304b\u306b\u5f71\u97ff\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%86%8D%E3%81%B3%E8%B5%B7%E3%81%93%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B\"><\/span>\u518d\u3073\u8d77\u3053\u308a\u307e\u3059\u304b?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e21\u89aa\u3068\u3082\u306b\u67d3\u8272\u4f53\u304c\u6b63\u5e38\u3067\u3042\u308c\u3070\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u305d\u306e\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3092\u6301\u3064\u5b50\u4f9b\u304c\u751f\u307e\u308c\u308b\u3053\u3068\u306f\u307e\u305a\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u304f\u307e\u308c\u306b\uff081\uff05\u672a\u6e80\uff09\u3001\u4e21\u89aa\u3068\u3082\u306b\u8840\u6db2\u691c\u67fb\u3067\u67d3\u8272\u4f53\u304c\u6b63\u5e38\u3067\u3042\u308b\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u3001\u4e21\u89aa\u306e\u5375\u7d30\u80de\u3084\u7cbe\u5b50\u7d30\u80de\u306e\u4e00\u90e8\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u304c\u5b58\u5728\u3059\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f<strong>\u751f\u6b96\u7d30\u80de<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a><\/strong>\u3068\u547c\u3070\u308c\u3001\u8840\u6db2\u691c\u67fb\u3067\u67d3\u8272\u4f53\u304c\u6b63\u5e38\u306b\u898b\u3048\u308b\u4e21\u89aa\u306e\u9593\u306b\u3001\u91cd\u8907\u90e8\u5206\u3092\u6301\u3064\u5b50\u4f9b\u304c\u8907\u6570\u751f\u307e\u308c\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002<br><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u3092\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u5bb6\u65cf\u3067\u306f\u30011\u56de\u306e\u598a\u5a20\u3067<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u3092\u6301\u3064\u5b50\u4f9b\uff08\u5973\u5150\u307e\u305f\u306f\u7537\u5150\uff09\u304c\u751f\u307e\u308c\u308b\u53ef\u80fd\u6027\u306f50\uff05\u306b\u4e0a\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u90e8\u5206\u91cd\u8907<\/a>\u304c\u5b50\u4f9b\u306e\u767a\u9054\u3001\u5065\u5eb7\u3001\u884c\u52d5\u306b\u4e0e\u3048\u308b\u5f71\u97ff\u306f\u78ba\u5b9f\u306b\u4e88\u6e2c\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<br>\u907a\u4f1d\u5b66\u30bb\u30f3\u30bf\u30fc\u3067\u306f\u3001\u6b21\u306e\u598a\u5a20\u3092\u3059\u308b\u524d\u306b\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1q211%E3%81%AE%E9%83%A8%E5%88%86%E9%87%8D%E8%A4%87%E3%82%92%E3%82%82%E3%81%A4%E7%A7%81%E3%81%AE%E5%AD%90%E4%BE%9B%E3%81%AF%E3%80%81%E5%90%8C%E3%81%98%E3%82%88%E3%81%86%E3%81%AB%E7%BD%B9%E6%82%A3%E3%81%97%E3%81%9F%E5%AD%90%E4%BE%9B%E3%81%A7%E3%81%99%E3%81%8B\"><\/span>1q21.1\u306e\u90e8\u5206\u91cd\u8907\u3092\u3082\u3064\u79c1\u306e\u5b50\u4f9b\u306f\u3001\u540c\u3058\u3088\u3046\u306b\u7f79\u60a3\u3057\u305f\u5b50\u4f9b\u3067\u3059\u304b?<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u91cd\u8907<\/a>\u3092\u3082\u3064\u5b50\u4f9b\u306f\u5b50\u4f9b\u3092\u6301\u3064\u3053\u3068\u3092\u671b\u3080\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002 \u598a\u5b55\u6027\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u304b\u3069\u3046\u304b\u3092\u78ba\u304b\u3081\u308b\u306e\u306b\u5341\u5206\u306a\u671f\u9593\u3001\u3053\u306e\u72b6\u614b\u306b\u3064\u3044\u3066\u306f\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u598a\u5b55\u6027\u306f\u6b63\u5e38\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002 \u305d\u308c\u305e\u308c\u306e\u598a\u5a20\u306b\u304a\u3044\u3066\u3001\u91cd\u8907\u3057\u305f\u4eba\u306f\u305d\u308c\u3092\u53d7\u3051\u7d99\u3050\u30ea\u30b9\u30af\u304c50%\u3001\u91cd\u8907\u3057\u306a\u3044\u5b50\u3069\u3082\u3092\u6301\u3064\u78ba\u7387\u304c50%\u3067\u3042\u308b\u3002<br>\u5b50\u3069\u3082\u306e\u4e16\u8a71\u3092\u3059\u308b\u80fd\u529b\u306f\u3001\u81ea\u5206\u81ea\u8eab\u306e\u5b66\u7fd2\u80fd\u529b\u3068\u5bc6\u63a5\u306b\u95a2\u4fc2\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u975e\u5e38\u306b\u9ad8\u3044\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"766\" height=\"826\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-s.jpg\" alt=\"\" class=\"wp-image-18173\"\/><figcaption class=\"wp-element-caption\">5\u6b73<\/figcaption><\/figure><\/div>\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1q211%E3%81%AE%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AE%E4%B8%80%E9%83%A8\"><\/span>1q21.1\u306e\u907a\u4f1d\u5b50\u306e\u4e00\u90e8<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307b\u3068\u3093\u3069\u306e\u4eba\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">\u91cd\u8907\u3057\u3066\u3044\u308b1q21.1\u306e\u90e8\u5206<\/a>\u306f\u907a\u4f1d\u5b50\u306b\u5bcc\u3093\u3067\u3044\u308b\u3002<br>GJA5\u306f\u3001Connexin40\u3068\u3057\u3066\u77e5\u3089\u308c\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u7523\u751f\u3059\u308b\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3002 \u5fc3\u81d3\u306e\u4e0a\u90e8\u306e\u5fc3\u5ba4(\u5fc3\u623f)\u306b\u767a\u73fe\u3057\u3001\u5341\u5206\u306a\u91cf\u3092\u3082\u305f\u306a\u3044\u3053\u3068\u306f\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3068\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002 \u3057\u304b\u3057\u3001\u3053\u306e\u907a\u4f1d\u5b50\u3092\u3082\u305f\u306a\u3044\u4eba\u306e\u4e2d\u306b\u306f\u6b63\u5e38\u306a\u5fc3\u81d3\u3092\u3082\u3064\u3082\u306e\u3082\u3042\u308a\u3001\u305d\u306e\u7406\u7531\u306f\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u306a\u3044(Christiansen 2004; Mefford 2008; Brunet 2009)\u3002<br>PRKAB2\u306f\u3001\u5fc3\u81d3\u3067\u767a\u73fe\u3059\u308b\u3082\u30461\u3064\u306e\u907a\u4f1d\u5b50\u3067\u3042\u308b(Brunet 2009)\u3002<br>\u67d3\u8272\u4f5316q22.2\u306b\u307f\u3089\u308c\u308bHYD1N\u907a\u4f1d\u5b50\u306f\u3001\u9032\u5316\u306e\u904e\u7a0b\u30671q21.1\u306b\u633f\u5165\u3055\u308c\u305f\u90e8\u5206\u30b3\u30d4\u30fc\u3092\u3082\u3064\u3002 1q21.1\u4e0a\u306eHYD1N\u907a\u4f1d\u5b50\u306f\u8133\u306b\u304a\u3044\u3066\u306e\u307f\u6d3b\u6027\u3067\u3042\u308b\u3002<br>\u6b20\u640d\u3057\u3066\u3044\u308b\u500b\u4f53\u3067\u306f\u982d\u90e8\u306e\u5927\u304d\u3055\u306f\u5c0f\u3055\u304f\u3001\u4f59\u5206\u306a\u907a\u4f1d\u5b50\u3092\u3082\u3064\u500b\u4f53\u3067\u306f\u982d\u90e8\u306e\u5927\u304d\u3055\u304c\u5927\u304d\u3044\u3002 \u3053\u306e\u3053\u3068\u306f\u3001HYD1N\u907a\u4f1d\u5b50\u304c\u982d\u306e\u5927\u304d\u3055\u306e\u6c7a\u5b9a\u306b\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u5f37\u304f\u793a\u5506\u3057\u3066\u3044\u308b(Brunetti-Pierri 2008; Mefford 2008)\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"458\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-t-1024x458.png\" alt=\"\" class=\"wp-image-18175\"\/><\/figure><\/div>\n\n\n<p>Nature Genetics Vol. 40 (12) p1469\u304b\u3089\u3001Ankita Patel\u535a\u58eb\u306e\u7a2e\u985e\u306e\u8a31\u53ef\u3092\u5f97\u3066\u7de8\u96c6\u3057\u3001\u305d\u306e\u5f8c\u66f4\u65b0\u3057\u305f\u56f3\u3002 \u3053\u306e\u56f3\u306e\u6570\u5b57\u306f\u3001\u30d2\u30c8\u30b2\u30ce\u30e0\u69cb\u7bc9\u726919(hg19\u3001\u8a73\u7d30\u306f4\u30da\u30fc\u30b8\u3092\u53c2\u7167)\u3092\u53c2\u7167\u3057\u3066\u3044\u308b\u3002 \u3042\u306a\u305f\u306e\u5b50\u4f9b\u306e\u5831\u544a\u306f\u3001\u7570\u306a\u308b\u30d2\u30c8\u30b2\u30ce\u30e0\u69cb\u7bc9\u3092\u6307\u3057\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002 \u3054\u81ea\u8eab\u307e\u305f\u306f\u907a\u4f1d\u5b66\u306e\u5c02\u9580\u5bb6\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<br>\u30ec\u30dd\u30fc\u30c8\u306e\u7406\u89e3\u306b\u5f79\u7acb\u3064\u3088\u3046\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"563\" height=\"855\" src=\"\/nipt\/wp-content\/uploads\/2021\/10\/1q21-u.jpg\" alt=\"\" class=\"wp-image-18177\"\/><figcaption class=\"wp-element-caption\">3\u6b73<\/figcaption><\/figure><\/div><\/div><\/div>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%94%AF%E6%8F%B4%E3%81%A8%E6%83%85%E5%A0%B1\"><\/span>\u652f\u63f4\u3068\u60c5\u5831<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><strong>\u5e0c\u5c11\u67d3\u8272\u4f53\u969c\u5bb3\u30b5\u30dd\u30fc\u30c8\u30b0\u30eb\u30fc\u30d7<\/strong><br>The Stables, Station Rd West, Oxted, Surrey. \u82f1\u56fdRH8 9EE<br>\u96fb\u8a71: +44(0)1883 723356<br>info@rarechromo.org I www.rarechromo.org<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u90e8\u5206\u6b20\u5931\u304a\u3088\u3073\u90e8\u5206\u91cd\u8907<\/a>\u3068\u547c\u3070\u308c\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/partialdeletions\/\">1q21.1\u306e\u91cd\u8907<\/a>\u306b\u3088\u3063\u3066\u5f71\u97ff\u3092\u53d7\u3051\u308b\u5bb6\u7cfb\u306b\u3064\u3044\u3066\u306f\u3001Facebook(www.facebook.com)\u30b0\u30eb\u30fc\u30d7\u304c\u5b58\u5728\u3059\u308b<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>Unique\u306b\u53c2\u52a0\u3057\u3066\u3001\u5bb6\u65cf\u306e\u30ea\u30f3\u30af\u3084\u60c5\u5831\u3001\u30b5\u30dd\u30fc\u30c8\u3092\u5f97\u307e\u3057\u3087\u3046\u3002<br>Unique\u306f\u3001\u653f\u5e9c\u304b\u3089\u306e\u8cc7\u91d1\u63f4\u52a9\u3092\u53d7\u3051\u305a\u3001\u3059\u3079\u3066\u5bc4\u4ed8\u3068\u52a9\u6210\u91d1\u3067\u6210\u308a\u7acb\u3063\u3066\u3044\u308b\u6148\u5584\u56e3\u4f53\u3067\u3059\u3002\u3054\u5354\u529b\u3044\u305f\u3060\u3051\u308b\u65b9\u306f\u3001\u30a6\u30a7\u30d6\u30b5\u30a4\u30c8\uff08www.rarechromo.org\/donate\uff09\u304b\u3089\u3054\u5bc4\u4ed8\u3092\u304a\u9858\u3044\u3057\u307e\u3059\u3002<br>\u7686\u69d8\u306e\u3054\u5354\u529b\u3092\u304a\u9858\u3044\u3044\u305f\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>Unique\u3067\u306f\u3001\u60c5\u5831\u3092\u63a2\u3057\u3066\u3044\u308b\u5bb6\u65cf\u3092\u52a9\u3051\u308b\u305f\u3081\u306b\u3001\u4ed6\u306e\u7d44\u7e54\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\u30dc\u30fc\u30c9\u3084\u30a6\u30a7\u30d6\u30b5\u30a4\u30c8\u306b\u8a00\u53ca\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u5f53\u793e\u304c\u305d\u308c\u3089\u306e\u30b3\u30f3\u30c6\u30f3\u30c4\u3092\u652f\u6301\u3057\u305f\u308a\u3001\u8cac\u4efb\u3092\u8ca0\u3046\u3053\u3068\u3092\u610f\u5473\u3059\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<br>\u3053\u306e\u30ac\u30a4\u30c9\u306f\u3001\u500b\u4eba\u7684\u306a\u533b\u5b66\u7684\u30a2\u30c9\u30d0\u30a4\u30b9\u306e\u4ee3\u308f\u308a\u306b\u306a\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u5bb6\u65cf\u306f\u3001\u907a\u4f1d\u5b50\u306e\u8a3a\u65ad\u3001\u7ba1\u7406\u53ca\u3073\u5065\u5eb7\u306b\u95a2\u3059\u308b\u3059\u3079\u3066\u306e\u4e8b\u9805\u306b\u3064\u3044\u3066\u3001\u533b\u5b66\u7684\u8cc7\u683c\u3092\u6709\u3059\u308b\u81e8\u5e8a\u533b\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u3053\u306e\u60c5\u5831\u306f\u3001\u767a\u884c\u6642\u70b9\u3067\u5165\u624b\u53ef\u80fd\u306a\u6700\u5584\u306e\u3082\u306e\u3067\u3042\u308b\u3068\u8003\u3048\u3066\u304a\u308a\u3001\u7c73\u56fd\u30ef\u30b7\u30f3\u30c8\u30f3\u5927\u5b66\u907a\u4f1d\u533b\u5b66\u90e8\u9580\u5c0f\u5150\u79d1\u52a9\u6559\u6388\u30d8\u30b6\u30fc\u30fb\u30e1\u30d5\u30a9\u30fc\u30c9\u535a\u58eb\u304a\u3088\u3073Unique\u306e\u30c1\u30fc\u30d5\u30fb\u30e1\u30c7\u30a3\u30ab\u30eb\u30fb\u30a2\u30c9\u30d0\u30a4\u30b6\u30fc\u3067\u3042\u308b\u30a6\u30a9\u30fc\u30ea\u30c3\u30af\u5927\u5b66\u751f\u6b96\u907a\u4f1d\u5b66\u6559\u6388\u30de\u30fc\u30b8\u30e5\u30fb\u30d5\u30eb\u30c6\u30f3\u6559\u6388\uff082010\u5e74\uff09\u306b\u3088\u308b\u30ec\u30d3\u30e5\u30fc\u3092\u53d7\u3051\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>2010\u5e74 \u7b2c1.0\u7248 (PM)<br>2011\u5e74 \u7b2c1.1\u7248 (PM)<br>2013\u5e74 \u30d0\u30fc\u30b8\u30e7\u30f31.2 (SW)<\/p>\n\n\n\n<p class=\"has-text-align-center\">\u8457\u4f5c\u6a29 \u00a9 Unique 2018<\/p>\n\n\n\n<p>\u307e\u308c\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u652f\u63f4\u30b0\u30eb\u30fc\u30d7 \u30c1\u30e3\u30ea\u30c6\u30a3\u756a\u53f71110661<br>\u30a4\u30f3\u30b0\u30e9\u30f3\u30c9\u3001\u30a6\u30a7\u30fc\u30eb\u30ba\u3067\u767b\u9332 \u4f1a\u793e\u756a\u53f75460413<\/p>\n\n\n\n    <a href=\"\/nipt\/19p13-13\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u65b0\u3057\u304419p13.13\u5fae\u5c0f\u6b20\u5931\/\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">\u65b0\u898f\u306e19p13.13\u5fae\u5c0f\u6b20\u5931\uff0f\u5fae\u5c0f\u91cd\u8907\u75c7\u5019\u7fa4\u30a2\u30c3\u30bb\u30a4\u306e\u63a2\u7d22\u3002...<\/div>\n      <\/div>\n    <\/a>\n<\/div><\/div>\n","protected":false},"excerpt":{"rendered":"\u51fa\u5178\u3068\u53c2\u8003\u6587\u732e \u3053\u306e\u30ac\u30a4\u30c9\u306e\u60c5\u5831\u306f\u30011q&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1q21-1-microduplications\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":523,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[71],"tags":[74,43,49],"class_list":["post-18136","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise","tag-duplication-syndrome","tag-gene","tag-genetic-disease"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18136","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=18136"}],"version-history":[{"count":11,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18136\/revisions"}],"predecessor-version":[{"id":109675,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/18136\/revisions\/109675"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/523"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=18136"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=18136"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=18136"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}