{"id":83464,"date":"2024-11-14T13:30:09","date_gmt":"2024-11-14T04:30:09","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83464"},"modified":"2026-07-21T05:22:17","modified_gmt":"2026-07-20T20:22:17","slug":"2q31_1_duplication","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1_duplication\/","title":{"rendered":"2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u300d\u306e\u7279\u5fb4\u3067\u3042\u308a\u3001\u672c\u8a18\u4e8b\u3067\u306f\u91cd\u8907\uff08gain\uff09\u3068\u6b20\u5931\uff08loss\uff09\u3092\u6df7\u540c\u3057\u306a\u3044\u3088\u3046\u6574\u7406\u3057\u306a\u304c\u3089\u89e3\u8aac\u3057\u307e\u3059\u3002\u8a3a\u65ad\u306f\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306e\u57fa\u672c\u7684\u306a\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p><\/div>\n\n\n\n<div style=\"border:1px solid #e8608a;border-radius:8px;background:#fff5f8;padding:4% 5%;margin:1rem 0 2.5rem;\">\n<p 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u307e\u3067\u306e\u6d41\u308c<\/li>\n<li>\u898b\u3064\u304b\u3063\u305f\u3068\u304d\u306e\u5411\u304d\u5408\u3044\u65b9\u3068\u3001\u5bb6\u65cf\u304c\u4f7f\u3048\u308b\u76f8\u8ac7\u7a93\u53e3<\/li>\n<\/ul>\n<\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 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 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1_duplication\/#%E6%B2%BB%E7%99%82%E3%81%A8%E6%94%AF%E6%8F%B4%EF%BD%9C%E7%9C%BC%E7%A7%91%E3%83%BB%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E3%83%BB%E7%99%82%E8%82%B2%E3%81%AE%E9%80%A3%E6%90%BA\" >\u6cbb\u7642\u3068\u652f\u63f4\uff5c\u773c\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u30fb\u7642\u80b2\u306e\u9023\u643a<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1_duplication\/#%E7%9C%BC%E7%A7%91%E3%81%A7%E3%81%AE%E3%83%95%E3%82%A9%E3%83%AD%E3%83%BC\" >\u773c\u79d1\u3067\u306e\u30d5\u30a9\u30ed\u30fc<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1_duplication\/#%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E3%81%A7%E3%81%AE%E5%AF%BE%E5%BF%9C\" >\u6574\u5f62\u5916\u79d1\u3067\u306e\u5bfe\u5fdc<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1_duplication\/#%E7%99%BA%E9%81%94%E3%81%AE%E8%A6%8B%E5%AE%88%E3%82%8A%E3%81%A8%E7%99%82%E8%82%B2\" >\u767a\u9054\u306e\u898b\u5b88\u308a\u3068\u7642\u80b2<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1_duplication\/#%E4%B8%A1%E8%A6%AA%E3%81%AE%E8%B2%A0%E6%8B%85%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%AE%E6%94%AF%E3%81%88\" >\u4e21\u89aa\u306e\u8ca0\u62c5\u3068\u5bb6\u65cf\u306e\u652f\u3048<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1_duplication\/#%E5%AE%B6%E6%97%8F%E3%81%AE%E6%94%AF%E6%8F%B4%E3%81%A8%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1_duplication\/#Q_%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E4%BD%95%E3%81%8C%E9%81%95%E3%81%86%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u91cd\u8907\u75c7\u5019\u7fa4\u3068\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u4f55\u304c\u9055\u3046\u306e\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1_duplication\/#Q_%E6%89%8B%E6%8C%87%E3%81%AE%E7%99%92%E5%90%88%EF%BC%88%E5%90%88%E6%8C%87%E7%97%87%EF%BC%89%E3%81%AF%E6%B2%BB%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u624b\u6307\u306e\u7652\u5408\uff08\u5408\u6307\u75c7\uff09\u306f\u6cbb\u308a\u307e\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1_duplication\/#Q_%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%81%AF%E5%BF%85%E3%81%9A%E5%87%BA%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u767a\u9054\u306e\u9045\u308c\u306f\u5fc5\u305a\u51fa\u308b\u306e\u3067\u3059\u304b\uff1f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1_duplication\/#Q_%E8%A6%AA%E3%81%AE%E9%81%BA%E4%BC%9D%E3%82%84%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u89aa\u306e\u907a\u4f1d\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u3059\u304b\uff1f<\/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\/2q31_1_duplication\/#Q_%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BB%E3%82%92%E5%8F%97%E3%81%91%E3%82%8B%E3%81%8B%E8%BF%B7%E3%81%A3%E3%81%A6%E3%81%84%E3%81%BE%E3%81%99%E3%80%82%E3%81%A9%E3%81%86%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u51fa\u751f\u524d\u691c\u67fb\u3092\u53d7\u3051\u308b\u304b\u8ff7\u3063\u3066\u3044\u307e\u3059\u3002\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2q311%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%8B\"><\/span>2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u304b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u30012\u756a\u67d3\u8272\u4f53\u306e\u9577\u3044\u8155\uff08\u9577\u8155\uff09\u306b\u3042\u308bq31.1\u9818\u57df\u306e\u3046\u3061\u3001HOXD\u907a\u4f1d\u5b50\u7fa4\u3092\u542b\u3080\u7bc4\u56f2\u304c\u901a\u5e38\u306e2\u30b3\u30d4\u30fc\u3088\u308a\u591a\u304f\uff083\u30b3\u30d4\u30fc\u4ee5\u4e0a\u306b\uff09\u5897\u3048\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u5148\u5929\u6027\u306e\u5909\u5316\u3067\u3059\u3002<\/strong>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u91cd\u8907\u306e\u5927\u304d\u3055\u306f\u7d041.0Mb\u304b\u30893.8Mb\u307e\u3067\u5e45\u304c\u3042\u308a\u3001\u7bc4\u56f2\u306b\u306fHOXD1\u30fbHOXD3\u30fbHOXD4\u30fbHOXD8\u30fbHOXD9\u30fbHOXD10\u30fbHOXD11\u30fbHOXD12\u30fbHOXD13\u306e9\u500b\u306eHOXD\u907a\u4f1d\u5b50\u3068MTX2\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305a\u306f\u75c5\u6c17\u306e\u5168\u4f53\u50cf\u304b\u3089\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u5fae\u5c0f\u91cd\u8907\u300d\u3068\u306f\u3001\u67d3\u8272\u4f53\u306e\u3054\u304f\u5c0f\u3055\u306a\u7bc4\u56f2\u304c\u4f59\u5206\u306b\u30b3\u30d4\u30fc\u3055\u308c\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002\u5f93\u6765\u306e\u9855\u5fae\u93e1\u306b\u3088\u308b\u67d3\u8272\u4f53\u691c\u67fb\u3060\u3051\u3067\u306f\u898b\u3064\u3051\u306b\u304f\u304f\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u306a\u3069\u306e\u8a73\u3057\u3044\u691c\u67fb\u3067\u521d\u3081\u3066\u5206\u304b\u308b\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u540c\u30582q31.1\u9818\u57df\u3067\u3082\u3001\u5b9f\u969b\u306b\u91cd\u8907\u3057\u3066\u3044\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" aria-label=\"2\u756a\u67d3\u8272\u4f53\u306e\u9577\u3044\u8155\u306b\u3042\u308bq31.1\u9818\u57df\u306e\u3046\u3061HOXD\u907a\u4f1d\u5b50\u7fa4\u3092\u542b\u3080\u7bc4\u56f2\u304c\u4f59\u5206\u306b\u30b3\u30d4\u30fc\u3055\u308c\u3066\u3044\u308b\u69d8\u5b50\u3092\u793a\u3057\u305f\u56f3\" viewBox=\"0 0 720 260\" 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id=\"%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E7%A8%80%E3%81%AA%E7%97%85%E6%B0%97%E3%81%AA%E3%81%AE%E3%81%8B\"><\/span><strong>\u3069\u306e\u304f\u3089\u3044\u7a00\u306a\u75c5\u6c17\u306a\u306e\u304b<\/strong><span 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class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53\u306e\u5909\u5316\u306b\u306f\u3001\u5927\u304d\u304f\u5206\u3051\u3066\u300c\u6b20\u5931\u300d\u3068\u300c\u91cd\u8907\u300d\u306e2\u7a2e\u985e\u304c\u3042\u308a\u307e\u3059\u3002\u6b20\u5931\uff08deletion\uff0floss\uff09\u306f\u907a\u4f1d\u60c5\u5831\u304c\u5931\u308f\u308c\u308b\u5909\u5316\u3001\u91cd\u8907\uff08duplication\uff0fgain\uff09\u306f\u907a\u4f1d\u60c5\u5831\u304c\u4f59\u5206\u306b\u5897\u3048\u308b\u5909\u5316\u3067\u3059\u3002\u540c\u30582q31.1\u3068\u3044\u3046\u7bc4\u56f2\u3067\u3082\u3001\u6b20\u5931\u3068\u91cd\u8907\u3067\u306f\u307e\u3063\u305f\u304f\u5225\u306e\u75c5\u6c17\u3068\u3057\u3066\u6271\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u6271\u30462q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u3001\u907a\u4f1d\u60c5\u5831\u304c\u5897\u3048\u308b\u300cgain\u300d\u578b\u3067\u3059\u3002\u53cd\u5bfe\u306b\u3001\u540c\u30582q31.1\u9818\u57df\u306e\u907a\u4f1d\u60c5\u5831\u304c\u5931\u308f\u308c\u308b\u300closs\u300d\u578b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/2q31_1\/\">2q31.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u8a18\u4e8b<\/a>\u3067\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u767a\u9054\u9045\u5ef6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u9aa8\u683c\u7570\u5e38\u306a\u3069\u6bd4\u8f03\u7684\u91cd\u3044\u75c7\u72b6\u3092\u4f34\u3046\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u773c\u632f\u3068\u5408\u6307\u75c7\u3092\u4e2d\u5fc3\u306b\u3001\u767a\u9054\u306f\u6b63\u5e38\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u5831\u544a\u304c\u4e2d\u5fc3\u3068\u3044\u3046\u9055\u3044\u304c\u3042\u308a\u307e\u3059\u3002\u691c\u67fb\u7d50\u679c\u306b\u300c\u91cd\u8907\u300d\u300c\u6b20\u5931\u300d\u306e\u3069\u3061\u3089\u3068\u8a18\u8f09\u3055\u308c\u3066\u3044\u308b\u304b\u3092\u3001\u5fc5\u305a\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/2q31_1\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">2q31.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">2q31.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff1f\u539f\u56e0\u3001\u75c7\u72b6\u3001\u6cbb\u7642\u6cd5\u3001\u4e88\u5f8c\u3001\u305d\u3057\u3066\u5bb6\u5ead\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u306e\u91cd\u8981\u6027\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002\u767a\u9054\u652f\u63f4\u3084\u533b\u7642\u7ba1\u7406\u306e\u60c5\u5831\u3092\u8a73\u3057\u304f...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BD%9C%E5%85%88%E5%A4%A9%E6%80%A7%E7%9C%BC%E6%8C%AF%E3%81%A8%E6%89%8B%E6%8C%87%E3%81%AE%E7%99%92%E5%90%88%EF%BC%88%E5%90%88%E6%8C%87%E7%97%87%EF%BC%89%E3%81%8C%E4%B8%AD%E5%BF%83\"><\/span>\u4e3b\u306a\u75c7\u72b6\uff5c\u5148\u5929\u6027\u773c\u632f\u3068\u624b\u6307\u306e\u7652\u5408\uff08\u5408\u6307\u75c7\uff09\u304c\u4e2d\u5fc3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u3067\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e2d\u5fc3\u7684\u306a\u75c7\u72b6\u306f\u3001\u751f\u307e\u308c\u3064\u304d\u306e\u773c\u632f\uff08\u632f\u308a\u5b50\u69d8\u773c\u632f\uff09\u3068\u3001\u624b\u6307\u306e\u7652\u5408\uff08\u5408\u6307\u75c7\uff09\u306e2\u3064\u3067\u3059\u3002<\/strong>\u77e5\u80fd\u3084\u767a\u9054\u306f\u6b63\u5e38\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u3068\u306e\u5831\u544a\u304c\u4e2d\u5fc3\u3067\u3001\u91cd\u8907\u306e\u7bc4\u56f2\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u73fe\u308c\u65b9\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter\" style=\"margin:1.5rem auto;\">\n<svg role=\"img\" 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id=\"%E7%99%BA%E9%81%94%E3%83%BB%E7%9F%A5%E8%83%BD%E9%9D%A2%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%E5%88%86%E3%81%8B%E3%81%A3%E3%81%A6%E3%81%84%E3%82%8B%E3%81%93%E3%81%A8\"><\/span><strong>\u767a\u9054\u30fb\u77e5\u80fd\u9762\u306b\u3064\u3044\u3066\u5206\u304b\u3063\u3066\u3044\u308b\u3053\u3068<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8a73\u3057\u304f\u5831\u544a\u3055\u308c\u305f\u5bb6\u7cfb\u3067\u306f\u3001\u7236\u89aa\u30fb\u5a18\u3068\u3082\u306b\u795e\u7d4c\u5b66\u7684\u306a\u691c\u67fb\u306f\u6b63\u5e38\u3067\u3001\u5a18\u306e\u904b\u52d5\u767a\u9054\u3082\u5e74\u9f62\u76f8\u5fdc\u3067\u3057\u305f\u3002\u3053\u306e\u70b9\u306f\u3001\u767a\u9054\u9045\u5ef6\u3084\u3066\u3093\u304b\u3093\u304c\u76ee\u7acb\u3064\u300c2q31.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u300d\u3068\u306f\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u91cd\u8907\u306e\u7bc4\u56f2\u304c\u5e83\u304c\u308aHOXD\u907a\u4f1d\u5b50\u7fa4\u4ee5\u5916\u306e\u907a\u4f1d\u5b50\u307e\u3067\u542b\u3080\u5834\u5408\u306f\u3001\u75c7\u72b6\u306e\u5e45\u304c\u3088\u308a\u5e83\u304c\u308b\u53ef\u80fd\u6027\u3082\u5426\u5b9a\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u79c1\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3001\u307e\u308c\u306a\u91cd\u8907\u304c\u307f\u3064\u304b\u3063\u305f\u3054\u5bb6\u65cf\u304c\u3001\u75c7\u72b6\u306e\u5e45\u306e\u5e83\u3055\u3092\u77e5\u3063\u3066\u5c11\u3057\u5b89\u5fc3\u3055\u308c\u308b\u5834\u9762\u306b\u3088\u304f\u51fa\u4f1a\u3044\u307e\u3059\u3002\u91cd\u8907\u306e\u6709\u7121\u3060\u3051\u3067\u767a\u9054\u306e\u898b\u901a\u3057\u3092\u6c7a\u3081\u3064\u3051\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u91cd\u8907\u7bc4\u56f2\u3092\u8a73\u3057\u304f\u8abf\u3079\u305f\u3046\u3048\u3067\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8E%9F%E5%9B%A0%EF%BD%9CHOXD%E9%81%BA%E4%BC%9D%E5%AD%90%E3%82%AF%E3%83%A9%E3%82%B9%E3%82%BF%E3%83%BC%E3%81%AE%E9%87%8D%E8%A4%87%E3%81%A8%E7%99%BA%E7%8F%BE%E3%83%90%E3%83%A9%E3%83%B3%E3%82%B9%E3%81%AE%E4%B9%B1%E3%82%8C\"><\/span>\u539f\u56e0\uff5cHOXD\u907a\u4f1d\u5b50\u30af\u30e9\u30b9\u30bf\u30fc\u306e\u91cd\u8907\u3068\u767a\u73fe\u30d0\u30e9\u30f3\u30b9\u306e\u4e71\u308c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306b\u306f\u3001\u624b\u8db3\u306e\u5f62\u3065\u304f\u308a\u306b\u95a2\u308f\u308bHOXD\u907a\u4f1d\u5b50\u7fa4\u306e\u30b3\u30d4\u30fc\u6570\u304c\u5897\u3048\u3001\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u30d0\u30e9\u30f3\u30b9\u304c\u4e71\u308c\u308b\u3053\u3068\u304c\u95a2\u308f\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>HOXD\u907a\u4f1d\u5b50\u7fa4\u306f\u3001\u80ce\u5150\u671f\u306b\u624b\u8db3\u306e\u524d\u5f8c\u306e\u8ef8\u3092\u6c7a\u3081\u308b\u50cd\u304d\u3092\u6301\u3064\u8ee2\u5199\u56e0\u5b50\u3067\u3059\u3002\u8a73\u3057\u304f\u8abf\u3079\u3089\u308c\u305f\u5bb6\u7cfb\u3067\u306f\u3001HOXD13\u3068HOXD10\u306e\u767a\u73fe\u91cf\u304c\u901a\u5e38\u306e3\u500d\u304b\u30896\u500d\u7a0b\u5ea6\u306b\u5897\u3048\u3001\u53cd\u5bfe\u306bHOXD12\u306e\u767a\u73fe\u306f\u6e1b\u3063\u3066\u3044\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u767a\u73fe\u30d0\u30e9\u30f3\u30b9\u306e\u4e71\u308c\u304c\u3001\u6307\u306e\u5206\u5316\u306b\u95a2\u308f\u308b\u30b7\u30b0\u30ca\u30eb\u3092\u4e71\u3057\u3001\u5408\u6307\u75c7\u306b\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u624b\u8db3\u4ee5\u5916\u306e\u81d3\u5668\u3078\u306e\u5f71\u97ff\u306f\u3001\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u5bb6\u7cfb\u3067\u306f\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff08\u512a\u6027\u907a\u4f1d\uff09\u306b\u3042\u305f\u308a\u307e\u3059\u3002\u5831\u544a\u3055\u308c\u305f\u5bb6\u7cfb\u3067\u306f\u3001\u7236\u89aa\u304b\u3089\u5a18\u3078\u3068\u91cd\u8907\u304c\u53d7\u3051\u7d99\u304c\u308c\u3066\u304a\u308a\u3001\u7236\u89aa\u81ea\u8eab\u306b\u3082\u8efd\u3044\u773c\u632f\u3068\u5408\u6307\u75c7\u304c\u3042\u308a\u307e\u3057\u305f\u3002\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3067\u3044\u306a\u3044\u5834\u5408\u306f\u3001\u53d7\u7cbe\u5375\u306e\u6bb5\u968e\u3067\u65b0\u3057\u304f\u751f\u3058\u305f\u5909\u5316\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u3092\u8003\u3048\u308b\u969b\u306f\u3001\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3067\u907a\u4f1d\u3057\u305f\u3082\u306e\u304b\u65b0\u751f\u7a81\u7136\u5909\u7570\u304b\u3092\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%EF%BD%9C%E6%9F%93%E8%89%B2%E4%BD%93%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%A4%9C%E6%9F%BB%E3%81%A7%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B\"><\/span>\u8a3a\u65ad\uff5c\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u3067\u78ba\u5b9a\u3059\u308b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306f\u3001\u67d3\u8272\u4f53\u306e\u3054\u304f\u5c0f\u3055\u306a\u6b20\u5931\u3084\u91cd\u8907\u307e\u3067\u8abf\u3079\u3089\u308c\u308b\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/strong>\u5f93\u6765\u306e\u9855\u5fae\u93e1\u306b\u3088\u308b\u67d3\u8272\u4f53\u691c\u67fb\uff08\u67d3\u8272\u4f53\u5206\u67d3\u6cd5\uff09\u3067\u306f\u898b\u3064\u3051\u306b\u304f\u3044\u5fae\u7d30\u306a\u5909\u5316\u3082\u3001\u3053\u306e\u691c\u67fb\u3067\u3042\u308c\u3070\u91cd\u8907\u306e\u7bc4\u56f2\u307e\u3067\u6570\u5024\u5316\u3057\u3066\u6349\u3048\u3089\u308c\u307e\u3059\u3002\u3053\u3053\u3067\u306f\u51fa\u751f\u524d\u3068\u51fa\u751f\u5f8c\u3001\u305d\u308c\u305e\u308c\u306e\u691c\u67fb\u306e\u6d41\u308c\u3092\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BB%E3%81%A7%E3%81%AE%E4%BD%8D%E7%BD%AE%E3%81%A5%E3%81%91%EF%BC%88NIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82%EF%BC%89\"><\/span><strong>\u51fa\u751f\u524d\u691c\u67fb\u3067\u306e\u4f4d\u7f6e\u3065\u3051\uff08NIPT\u3068\u306e\u95a2\u4fc2\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3042\u3089\u304b\u3058\u3081\u77e5\u3063\u3066\u304a\u3044\u3066\u307b\u3057\u3044\u70b9\u304c\u3042\u308a\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306f\u3001\u4e3b\u306b13\u30fb18\u30fb21\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\u306e\u67d3\u8272\u4f53\u306e\u6570\u306e\u5909\u5316\u3092\u8abf\u3079\u308b\u975e\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3059\u3002<strong>2q31.1\u306e\u3088\u3046\u306a\u5fae\u5c0f\u91cd\u8907\u306f\u3001\u57fa\u672c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u4e00\u90e8\u306e\u65bd\u8a2d\u3067\u306f\u62e1\u5927\u691c\u67fb\u306e\u30aa\u30d7\u30b7\u30e7\u30f3\u9805\u76ee\u3068\u3057\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u9818\u57df\u3092\u5e83\u304f\u6271\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u8c61\u7bc4\u56f2\u3084\u691c\u51fa\u7387\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u4eee\u306b\u30aa\u30d7\u30b7\u30e7\u30f3\u691c\u67fb\u3067\u6240\u898b\u304c\u793a\u3055\u308c\u3066\u3082\u3001\u305d\u308c\u3060\u3051\u3067\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002NIPT\u3067\u8abf\u3079\u3089\u308c\u308b\u9805\u76ee\u306e\u5168\u4f53\u50cf\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/\">NIPT\u3067\u308f\u304b\u308b\u75be\u60a3\u3092\u6574\u7406\u3057\u305f\u8a18\u4e8b<\/a>\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u5168\u4f53\u306e\u4f4d\u7f6e\u3065\u3051\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/\">\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068NIPT\u306e\u95a2\u4fc2\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u53c2\u8003\u306b\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A2%BA%E5%AE%9A%E8%A8%BA%E6%96%AD%E3%81%AF%E7%BE%8A%E6%B0%B4%E6%A4%9C%E6%9F%BB%E3%83%BB%E7%B5%A8%E6%AF%9B%E6%A4%9C%E6%9F%BB%E3%81%A7\"><\/span><strong>\u78ba\u5b9a\u8a3a\u65ad\u306f\u7f8a\u6c34\u691c\u67fb\u30fb\u7d68\u6bdb\u691c\u67fb\u3067<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3067\u63a1\u53d6\u3057\u305f\u7d30\u80de\u3092\u3001\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3067\u8a73\u3057\u304f\u8abf\u3079\u308b\u65b9\u6cd5\u304c\u3068\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306f\u78ba\u5b9a\u7684\u691c\u67fb\u3067\u3059\u304c\u3001\u308f\u305a\u304b\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u306e\u30ea\u30b9\u30af\u3092\u4f34\u3044\u307e\u3059\u3002\u76ee\u5b89\u3068\u3057\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3067\u304a\u3088\u305d0.3%\u524d\u5f8c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3067\u304a\u3088\u305d1%\u524d\u5f8c\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u53d7\u3051\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u30ea\u30b9\u30af\u3068\u5f97\u3089\u308c\u308b\u60c5\u5831\u3092\u7167\u3089\u3057\u5408\u308f\u305b\u3066\u3001\u3054\u5bb6\u65cf\u304c\u6c7a\u3081\u3066\u3044\u304f\u3053\u3068\u3067\u3059\u3002\u78ba\u5b9a\u691c\u67fb\u306e\u5185\u5bb9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniotic-fluid-test-about\/\">\u7f8a\u6c34\u691c\u67fb\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u306b\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002\u51fa\u751f\u5f8c\u3067\u3042\u308c\u3070\u3001\u304a\u5b50\u3055\u3093\u306e\u8840\u6db2\u304b\u3089\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3092\u884c\u3044\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u306e\u30ea\u30b9\u30af\u306a\u304f\u8abf\u3079\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><thead><tr><th>\u691c\u67fb<\/th><th>\u4f4d\u7f6e\u3065\u3051<\/th><th>2q31.1\u91cd\u8907\u3078\u306e\u5bfe\u5fdc<\/th><th>\u4f53\u3078\u306e\u8ca0\u62c5<\/th><\/tr><\/thead><tbody><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09<\/td><td>\u975e\u78ba\u5b9a\u7684\u691c\u67fb<\/td><td>\u57fa\u672c\u5bfe\u8c61\u5916\u3002\u4e00\u90e8\u65bd\u8a2d\u306e\u62e1\u5927\u691c\u67fb\u30aa\u30d7\u30b7\u30e7\u30f3\u3067\u5bfe\u8c61\u30fb\u691c\u51fa\u7387\u306b\u5e45<\/td><td>\u63a1\u8840\u306e\u307f<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\uff0b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a><\/td><td>\u78ba\u5b9a\u7684\u691c\u67fb<\/td><td>\u91cd\u8907\u7bc4\u56f2\u3092\u8a73\u3057\u304f\u78ba\u5b9a\u3067\u304d\u308b<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u30ea\u30b9\u30af\u7d040.3%\u524d\u5f8c<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\uff0b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a><\/td><td>\u78ba\u5b9a\u7684\u691c\u67fb<\/td><td>\u598a\u5a20\u65e9\u671f\u306b\u78ba\u5b9a\u3067\u304d\u308b<\/td><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u30ea\u30b9\u30af\u7d041%\u524d\u5f8c<\/td><\/tr><tr><td>\u51fa\u751f\u5f8c\u306e\u8840\u6db2\u691c\u67fb\uff0b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a><\/td><td>\u78ba\u5b9a\u7684\u691c\u67fb<\/td><td>\u751f\u307e\u308c\u305f\u5f8c\u306b\u78ba\u5b9a\u3067\u304d\u308b<\/td><td>\u63a1\u8840\u306e\u307f<\/td><\/tr><\/tbody><\/table><figcaption>2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u95a2\u308f\u308b\u691c\u67fb\u306e\u6bd4\u8f03\uff08\u4f4d\u7f6e\u3065\u3051\u3068\u8ca0\u62c5\u306e\u6574\u7406\uff09<\/figcaption><\/figure>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%81%A7%E9%87%8D%E8%A4%87%E3%81%8C%E8%A6%8B%E3%81%A4%E3%81%8B%E3%81%A3%E3%81%9F%E3%81%A8%E3%81%8D%E3%81%AE%E5%90%91%E3%81%8D%E5%90%88%E3%81%84%E6%96%B9\"><\/span>\u691c\u67fb\u3067\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u3068\u304d\u306e\u5411\u304d\u5408\u3044\u65b9<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u691c\u67fb\u30672q31.1\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u3066\u3082\u3001\u305d\u308c\u3060\u3051\u3067\u5c06\u6765\u306e\u75c7\u72b6\u306e\u6709\u7121\u3084\u91cd\u3055\u304c\u6c7a\u307e\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u843d\u3061\u7740\u3044\u3066\u60c5\u5831\u3092\u6574\u7406\u3059\u308b\u3053\u3068\u304c\u6b21\u306e\u4e00\u6b69\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/strong>\u8a3a\u65ad\u540d\u3060\u3051\u3092\u898b\u3066\u4e0d\u5b89\u304c\u5148\u7acb\u3063\u3066\u3057\u307e\u3046\u6c17\u6301\u3061\u306f\u81ea\u7136\u306a\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u306f\u76f8\u8ac7\u306e\u73fe\u5834\u3067\u3001NIPT\u306e\u7d50\u679c\u81ea\u4f53\u306b\u4e0d\u5b89\u3092\u611f\u3058\u308b\u3054\u5bb6\u65cf\u306b\u4f55\u5ea6\u3082\u51fa\u4f1a\u3063\u3066\u304d\u307e\u3057\u305f\u3002SNS\u3067\u3082\u300c\u3080\u304f\u307f\u304c\u6c17\u306b\u306a\u3063\u3066NIPT\u3092\u53d7\u3051\u305f\u304c\u3001\u507d\u967d\u6027\u7387\u306e\u9ad8\u3055\u3092\u77e5\u3063\u3066\u9006\u306b\u4e0d\u5b89\u306b\u306a\u3063\u305f\u300d\u3068\u3044\u3063\u305f\u58f0\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u5b9f\u969b\u306b\u3001\u3042\u308b\u30e6\u30fc\u30b6\u30fc\u306f21\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u507d\u967d\u6027\u7387\u306e\u9ad8\u3055\u306b\u89e6\u308c\u306a\u304c\u3089\u4e0d\u5b89\u3092\u6295\u7a3f\u3057\u3066\u304a\u308a\u3001<a href=\"https:\/\/x.com\/CgnS5c\" target=\"_blank\" rel=\"noopener\">@CgnS5c<\/a>\u6c0f\u3082\u691c\u67fb\u7d50\u679c\u306e\u89e3\u91c8\u306b\u60a9\u3080\u4e00\u4eba\u3067\u3057\u305f\u3002\u6570\u5024\u306e\u610f\u5473\u3092\u6b63\u3057\u304f\u7406\u89e3\u3059\u308b\u3053\u3068\u304c\u3001\u4e0d\u5b89\u3092\u548c\u3089\u3052\u308b\u7b2c\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u3082\u540c\u3058\u3053\u3068\u304c\u8a00\u3048\u307e\u3059\u3002\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u5bb6\u7cfb\u306e\u591a\u304f\u3067\u767a\u9054\u3084\u77e5\u80fd\u306f\u6b63\u5e38\u7bc4\u56f2\u306b\u3068\u3069\u307e\u3063\u3066\u304a\u308a\u3001\u91cd\u8907\u304c\u898b\u3064\u304b\u3063\u305f\u3053\u3068\u3060\u3051\u3067\u60b2\u89b3\u3059\u308b\u5fc5\u8981\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u8ff7\u3063\u305f\u3068\u304d\u306f\u3001\u4e00\u4eba\u3067\u62b1\u3048\u3053\u307e\u305a\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u691c\u67fb\u3067\u5206\u304b\u308b\u3053\u3068\u3001\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u3001\u305d\u306e\u5f8c\u306e\u9078\u629e\u80a2\u3092\u4e00\u7dd2\u306b\u6574\u7406\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E3%81%A8%E6%94%AF%E6%8F%B4%EF%BD%9C%E7%9C%BC%E7%A7%91%E3%83%BB%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E3%83%BB%E7%99%82%E8%82%B2%E3%81%AE%E9%80%A3%E6%90%BA\"><\/span>\u6cbb\u7642\u3068\u652f\u63f4\uff5c\u773c\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u30fb\u7642\u80b2\u306e\u9023\u643a<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>2q31.1\u91cd\u8907\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u6839\u6cbb\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3067\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u3089\u308c\u307e\u3059\u3002<\/strong>\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u5408\u308f\u305b\u3066\u3001\u8907\u6570\u306e\u8a3a\u7642\u79d1\u304c\u9023\u643a\u3057\u3066\u95a2\u308f\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/50788_s.jpg\" alt=\"\u5b9a\u671f\u7684\u306a\u767a\u9054\u30d5\u30a9\u30ed\u30fc\u3092\u53d7\u3051\u308b\u4e73\u5150\u306e\u30a4\u30e1\u30fc\u30b8\" class=\"wp-image-87578\"\/><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9C%BC%E7%A7%91%E3%81%A7%E3%81%AE%E3%83%95%E3%82%A9%E3%83%AD%E3%83%BC\"><\/span><strong>\u773c\u79d1\u3067\u306e\u30d5\u30a9\u30ed\u30fc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u773c\u632f\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u773c\u79d1\u3067\u5f31\u8996\u306e\u6709\u7121\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002\u5f31\u8996\u3092\u4f34\u3046\u3068\u304d\u306f\u3001\u773c\u93e1\u3084\u906e\u9589\uff08\u30a2\u30a4\u30d1\u30c3\u30c1\uff09\u306b\u3088\u308b\u6cbb\u7642\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u65e9\u671f\u306b\u6c17\u3065\u304d\u3001\u30d5\u30a9\u30ed\u30fc\u3092\u7d9a\u3051\u308b\u3053\u3068\u304c\u8996\u529b\u306e\u767a\u9054\u3092\u652f\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%95%B4%E5%BD%A2%E5%A4%96%E7%A7%91%E3%81%A7%E3%81%AE%E5%AF%BE%E5%BF%9C\"><\/span><strong>\u6574\u5f62\u5916\u79d1\u3067\u306e\u5bfe\u5fdc<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5408\u6307\u75c7\u304c\u3042\u308b\u5834\u5408\u3001\u6a5f\u80fd\u9762\u3068\u898b\u305f\u76ee\u306e\u4e21\u65b9\u3092\u8003\u616e\u3057\u30011\u6b73\u524d\u5f8c\u304b\u3089\u5c31\u5b66\u524d\u307e\u3067\u306e\u9593\u306b\u7652\u5408\u3092\u5206\u96e2\u3059\u308b\u624b\u8853\u304c\u8a08\u753b\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u5185\u53cd\u8db3\u306a\u3069\u4ed6\u306e\u9aa8\u683c\u6240\u898b\u3092\u4f34\u3046\u5834\u5408\u3082\u3001\u6574\u5f62\u5916\u79d1\u3067\u7d4c\u904e\u3092\u307f\u306a\u304c\u3089\u6cbb\u7642\u65b9\u91dd\u304c\u6c7a\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%81%AE%E8%A6%8B%E5%AE%88%E3%82%8A%E3%81%A8%E7%99%82%E8%82%B2\"><\/span><strong>\u767a\u9054\u306e\u898b\u5b88\u308a\u3068\u7642\u80b2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u591a\u304f\u306e\u75c7\u4f8b\u3067\u767a\u9054\u306f\u6b63\u5e38\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u305f\u3081\u3001\u5fc5\u305a\u3057\u3082\u7642\u80b2\u304c\u5fc5\u8981\u3068\u3044\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u3053\u3068\u3070\u3084\u904b\u52d5\u306e\u767a\u9054\u306b\u6c17\u306b\u306a\u308b\u70b9\u304c\u3042\u308c\u3070\u3001\u304b\u304b\u308a\u3064\u3051\u306e\u5c0f\u5150\u79d1\u3092\u901a\u3058\u3066\u8a00\u8a9e\u7642\u6cd5\u3084\u7406\u5b66\u7642\u6cd5\u306b\u3064\u306a\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%A1%E8%A6%AA%E3%81%AE%E8%B2%A0%E6%8B%85%E3%81%A8%E5%AE%B6%E6%97%8F%E3%81%AE%E6%94%AF%E3%81%88\"><\/span>\u4e21\u89aa\u306e\u8ca0\u62c5\u3068\u5bb6\u65cf\u306e\u652f\u3048<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u307e\u308c\u306a\u8a3a\u65ad\u540d\u3092\u544a\u3052\u3089\u308c\u305f\u3054\u5bb6\u65cf\u306b\u306f\u3001\u533b\u7642\u9762\u3060\u3051\u3067\u306a\u304f\u6c17\u6301\u3061\u306e\u9762\u3067\u3082\u3055\u307e\u3056\u307e\u306a\u8ca0\u62c5\u304c\u304b\u304b\u308a\u307e\u3059\u3002<\/strong>\u8ca0\u62c5\u306e\u4e2d\u8eab\u3092\u6574\u7406\u3057\u3066\u304a\u304f\u3068\u3001\u5fc5\u8981\u306a\u652f\u63f4\u5148\u3092\u65e9\u3081\u306b\u898b\u3064\u3051\u3084\u3059\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u901a\u9662\u306e\u8ca0\u62c5\uff1a<\/strong>\u773c\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u3078\u306e\u5b9a\u671f\u901a\u9662\u3084\u624b\u8853\u306e\u691c\u8a0e\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7d4c\u6e08\u7684\u306a\u8ca0\u62c5\uff1a<\/strong>\u624b\u8853\u3084\u901a\u9662\u306b\u304b\u304b\u308b\u8cbb\u7528\u306f\u3001\u5c0f\u5150\u533b\u7642\u8cbb\u52a9\u6210\u306a\u3069\u306e\u516c\u7684\u5236\u5ea6\u3067\u8efd\u6e1b\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u60c5\u5831\u306e\u5c11\u306a\u3055\u306b\u3088\u308b\u4e0d\u5b89\uff1a<\/strong>\u75c7\u4f8b\u6570\u304c\u5c11\u306a\u304f\u3001\u60c5\u5831\u3092\u96c6\u3081\u306b\u304f\u3044\u3053\u3068\u81ea\u4f53\u304c\u5fc3\u7406\u7684\u306a\u8ca0\u62c5\u306b\u306a\u308a\u304c\u3061\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5468\u56f2\u306e\u7406\u89e3\u3092\u5f97\u306b\u304f\u3044\u3053\u3068\uff1a<\/strong>\u8a3a\u65ad\u540d\u3092\u77e5\u308b\u4eba\u304c\u5c11\u306a\u3044\u305f\u3081\u3001\u5bb6\u65cf\u4f1a\u3084\u652f\u63f4\u56e3\u4f53\u3068\u306e\u3064\u306a\u304c\u308a\u304c\u52a9\u3051\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u540c\u3058\u300c\u91cd\u8907\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u304f\u304f\u308a\u3067\u898b\u308b\u3068\u3001\u6d77\u5916\u306b\u306fMECP2\u91cd\u8907\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u3001\u5225\u306e\u67d3\u8272\u4f53\u91cd\u8907\u3068\u5171\u306b\u6b69\u3080\u5bb6\u65cf\u4f1a\u3082\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u306e\u5bb6\u65cf\u4f1a\u306f10\u5468\u5e74\u3092\u8fce\u3048\u305f\u3053\u3068\u3092\u767a\u4fe1\u3057\u3066\u304a\u308a\u3001<a href=\"https:\/\/x.com\/mecp2family\" target=\"_blank\" rel=\"noopener\">@mecp2family<\/a>\u6c0f\u306f\u300c\u3086\u3063\u304f\u308a\u3067\u3082\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u300d\u3068\u6295\u7a3f\u3057\u3066\u3044\u307e\u3057\u305f\u3002\u8a3a\u65ad\u540d\u306f\u7570\u306a\u3063\u3066\u3082\u3001\u307e\u308c\u306a\u91cd\u8907\u3068\u5411\u304d\u5408\u3046\u5bb6\u65cf\u306e\u59ff\u52e2\u306b\u306f\u3001\u53c2\u8003\u306b\u306a\u308b\u90e8\u5206\u304c\u591a\u304f\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%AE%B6%E6%97%8F%E3%81%AE%E6%94%AF%E6%8F%B4%E3%81%A8%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E7%AA%93%E5%8F%A3\"><\/span>\u5bb6\u65cf\u306e\u652f\u63f4\u3068\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u7a00\u306a\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u3054\u5bb6\u65cf\u304c\u5b64\u7acb\u3057\u306a\u3044\u3088\u3046\u3001\u516c\u7684\u306a\u76f8\u8ac7\u7a93\u53e3\u3084\u4fe1\u983c\u3067\u304d\u308b\u60c5\u5831\u6e90\u3092\u65e9\u3081\u306b\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u5fc3\u306e\u652f\u3048\u306b\u306a\u308a\u307e\u3059\u3002<\/strong>\u60c5\u5831\u304c\u5c11\u306a\u3044\u75be\u60a3\u307b\u3069\u3001\u983c\u308c\u308b\u7a93\u53e3\u3092\u77e5\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u5b89\u5fc3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u96e3\u75c5\u3084\u5e0c\u5c11\u306a\u75be\u60a3\u306e\u60c5\u5831\u3092\u8abf\u3079\u305f\u3044\u3068\u304d\u306f\u3001<a href=\"https:\/\/www.nanbyou.or.jp\/\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002\u767a\u9054\u306e\u652f\u63f4\u306b\u3064\u3044\u3066\u306f\u3001<a href=\"https:\/\/www.rehab.go.jp\/ddis\/\" target=\"_blank\" rel=\"noopener\">\u56fd\u7acb\u969c\u5bb3\u8005\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u30bb\u30f3\u30bf\u30fc \u767a\u9054\u969c\u5bb3\u60c5\u5831\u30fb\u652f\u63f4\u30bb\u30f3\u30bf\u30fc<\/a>\u304c\u3001\u76f8\u8ac7\u5148\u3084\u652f\u63f4\u306e\u8003\u3048\u65b9\u3092\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002\u533b\u5b66\u7684\u306a\u8a73\u7d30\u306f\u3001\u75c7\u4f8b\u3092\u5831\u544a\u3057\u305f<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3198150\/\" target=\"_blank\" rel=\"noopener\">\u6d77\u5916\u306e\u5b66\u8853\u8ad6\u6587\uff08Ghoumid et al., European Journal of Human Genetics, 2011\u3001\u82f1\u8a9e\uff09<\/a>\u3084\u3001<a href=\"https:\/\/omim.org\/entry\/613681\" target=\"_blank\" rel=\"noopener\">OMIM\uff08\u30aa\u30f3\u30e9\u30a4\u30f3\u30fb\u30e1\u30f3\u30c7\u30eb\u907a\u4f1d\u3001\u82f1\u8a9e\uff09<\/a>\u3001<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/294026\" target=\"_blank\" rel=\"noopener\">Orphanet\uff08\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3001\u82f1\u8a9e\uff09<\/a>\u306b\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6d77\u5916\u306e\u5e0c\u5c11\u67d3\u8272\u4f53\u75be\u60a3\u652f\u63f4\u56e3\u4f53Unique\u304c\u516c\u958b\u3057\u3066\u3044\u308b<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%20%202\/Duplications%20of%202q%20FTNW.pdf\" target=\"_blank\" rel=\"noopener\">2q\u9818\u57df\u306e\u91cd\u8907\u306b\u95a2\u3059\u308b\u5bb6\u65cf\u5411\u3051\u89e3\u8aac\u8cc7\u6599\uff08\u82f1\u8a9e\uff09<\/a>\u306b\u306f\u3001\u5b9f\u969b\u306e\u75c7\u4f8b\u306b\u57fa\u3065\u304f\u75c7\u72b6\u306e\u5e45\u304c\u8a73\u3057\u304f\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u51fa\u751f\u524d\u691c\u67fb\u305d\u306e\u3082\u306e\u306b\u3064\u3044\u3066\u4e2d\u7acb\u306b\u7406\u89e3\u3092\u6df1\u3081\u305f\u3044\u3068\u304d\u306f\u3001<a href=\"https:\/\/jams-prenatal.jp\/\" target=\"_blank\" rel=\"noopener\">\u65e5\u672c\u533b\u5b66\u4f1a \u51fa\u751f\u524d\u691c\u67fb\u8a8d\u8a3c\u5236\u5ea6\u7b49\u904b\u55b6\u59d4\u54e1\u4f1a<\/a>\u306e\u60c5\u5831\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8eab\u8fd1\u306a\u652f\u3048\u3068\u3057\u3066\u306f\u3001\u5730\u57df\u306e\u4fdd\u5065\u30bb\u30f3\u30bf\u30fc\u3084\u5150\u7ae5\u767a\u9054\u652f\u63f4\u30bb\u30f3\u30bf\u30fc\u3001\u305d\u3057\u3066\u540c\u3058\u7d4c\u9a13\u3092\u3082\u3064\u5bb6\u65cf\u4f1a\u306e\u5b58\u5728\u304c\u3042\u308a\u307e\u3059\u3002\u4f3c\u305f\u72b6\u6cc1\u3092\u6b69\u3080\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u3068\u3001\u65e5\u3005\u306e\u5de5\u592b\u3084\u6c17\u6301\u3061\u306e\u6574\u7406\u3092\u5206\u304b\u3061\u5408\u3048\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/7q36-3-duplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">7q36.3\u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">7q36.3\u5fae\u5c0f\u91cd\u8907\u306f\u3001SHH\u907a\u4f1d\u5b50\u306e\u8abf\u7bc0\u7570\u5e38\u306b\u3088\u308a\u3001Triphalangeal Thumb-Polysyndactyly Syndrome...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div style=\"text-align:center;margin:2em 0;\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\" style=\"display:inline-block;padding:0.8em 2em;background:#e8608a;color:#fff;border-radius:30px;text-decoration:none;font-weight:bold;\">\u598a\u5a20\u4e2d\u306e\u4e0d\u5b89\u3092LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span>\u3088\u304f\u3042\u308b\u8cea\u554f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_2q311%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AFNIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. 2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306fNIPT\u3067\u5206\u304b\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u5fae\u5c0f\u91cd\u8907\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff08\u65b0\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff09\u306e\u57fa\u672c\u7684\u306a\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4e00\u90e8\u306e\u65bd\u8a2d\u3067\u306f\u62e1\u5927\u691c\u67fb\u306e\u30aa\u30d7\u30b7\u30e7\u30f3\u9805\u76ee\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u8c61\u7bc4\u56f2\u3084\u691c\u51fa\u7387\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u4eee\u306b\u6240\u898b\u304c\u793a\u3055\u308c\u3066\u3082\u3001\u305d\u308c\u3060\u3051\u3067\u306f\u78ba\u5b9a\u3057\u307e\u305b\u3093\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3067\u63a1\u53d6\u3057\u305f\u7d30\u80de\u3092\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3067\u8abf\u3079\u308b\u65b9\u6cd5\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E9%87%8D%E8%A4%87%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AF%E4%BD%95%E3%81%8C%E9%81%95%E3%81%86%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u91cd\u8907\u75c7\u5019\u7fa4\u3068\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u4f55\u304c\u9055\u3046\u306e\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u91cd\u8907\uff08duplication\uff0fgain\uff09\u306f\u67d3\u8272\u4f53\u306e\u907a\u4f1d\u60c5\u5831\u304c\u4f59\u5206\u306b\u5897\u3048\u308b\u5909\u5316\u3001\u6b20\u5931\uff08deletion\uff0floss\uff09\u306f\u907a\u4f1d\u60c5\u5831\u304c\u5931\u308f\u308c\u308b\u5909\u5316\u3067\u3059\u3002\u540c\u30582q31.1\u3068\u3044\u3046\u7bc4\u56f2\u3067\u3082\u3001\u91cd\u8907\u3068\u6b20\u5931\u3067\u306f\u307e\u3063\u305f\u304f\u5225\u306e\u75c5\u6c17\u3068\u3057\u3066\u6271\u308f\u308c\u307e\u3059\u3002\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u767a\u9054\u9045\u5ef6\u3084\u9aa8\u683c\u7570\u5e38\u306a\u3069\u6bd4\u8f03\u7684\u91cd\u3044\u75c7\u72b6\u3092\u4f34\u3044\u307e\u3059\u304c\u3001\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u773c\u632f\u3068\u5408\u6307\u75c7\u304c\u4e2d\u5fc3\u3067\u3001\u767a\u9054\u306f\u6b63\u5e38\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u5831\u544a\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u691c\u67fb\u7d50\u679c\u306b\u300c\u91cd\u8907\u300d\u300c\u6b20\u5931\u300d\u306e\u3069\u3061\u3089\u3068\u8a18\u8f09\u3055\u308c\u3066\u3044\u308b\u304b\u3067\u5224\u65ad\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E6%89%8B%E6%8C%87%E3%81%AE%E7%99%92%E5%90%88%EF%BC%88%E5%90%88%E6%8C%87%E7%97%87%EF%BC%89%E3%81%AF%E6%B2%BB%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u624b\u6307\u306e\u7652\u5408\uff08\u5408\u6307\u75c7\uff09\u306f\u6cbb\u308a\u307e\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ae\u819a\u306e\u307f\u304c\u7652\u5408\u3057\u3066\u3044\u308b\u30bf\u30a4\u30d7\u304c\u4e2d\u5fc3\u3067\u3001\u6a5f\u80fd\u9762\u3068\u898b\u305f\u76ee\u306e\u4e21\u65b9\u3092\u8003\u616e\u3057\u30011\u6b73\u524d\u5f8c\u304b\u3089\u5c31\u5b66\u524d\u307e\u3067\u306e\u9593\u306b\u5206\u96e2\u624b\u8853\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u6574\u5f62\u5916\u79d1\u3067\u7d4c\u904e\u3092\u307f\u306a\u304c\u3089\u3001\u624b\u8853\u306e\u6642\u671f\u3084\u65b9\u6cd5\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E7%99%BA%E9%81%94%E3%81%AE%E9%81%85%E3%82%8C%E3%81%AF%E5%BF%85%E3%81%9A%E5%87%BA%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u767a\u9054\u306e\u9045\u308c\u306f\u5fc5\u305a\u51fa\u308b\u306e\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u3044\u3048\u3001\u5fc5\u305a\u51fa\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u5bb6\u7cfb\u3067\u306f\u3001\u795e\u7d4c\u5b66\u7684\u306a\u691c\u67fb\u3082\u904b\u52d5\u767a\u9054\u3082\u6b63\u5e38\u7bc4\u56f2\u3067\u3057\u305f\u3002\u91cd\u8907\u306e\u7bc4\u56f2\u304c\u5e83\u304c\u308b\u5834\u5408\u306f\u75c7\u72b6\u306e\u5e45\u304c\u5e83\u304c\u308b\u53ef\u80fd\u6027\u3082\u3042\u308b\u305f\u3081\u3001\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u5b9a\u671f\u7684\u306a\u767a\u9054\u306e\u89b3\u5bdf\u3068\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u5c02\u9580\u5bb6\u3078\u306e\u76f8\u8ac7\u304c\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E8%A6%AA%E3%81%AE%E9%81%BA%E4%BC%9D%E3%82%84%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E7%94%9F%E6%B4%BB%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u89aa\u306e\u907a\u4f1d\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u3044\u3048\u3001\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u5831\u544a\u3055\u308c\u305f\u5bb6\u7cfb\u3067\u306f\u7236\u89aa\u304b\u3089\u5a18\u3078\u91cd\u8907\u304c\u53d7\u3051\u7d99\u304c\u308c\u3066\u3044\u307e\u3057\u305f\u304c\u3001\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3067\u3044\u306a\u3044\u5834\u5408\u306f\u65b0\u751f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u3068\u306f\u95a2\u4fc2\u306e\u306a\u3044\u3001\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u907a\u4f1d\u7684\u306a\u51fa\u6765\u4e8b\u3067\u3059\u3002\u6c17\u306b\u306a\u308b\u3068\u304d\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E5%87%BA%E7%94%9F%E5%89%8D%E6%A4%9C%E6%9F%BB%E3%82%92%E5%8F%97%E3%81%91%E3%82%8B%E3%81%8B%E8%BF%B7%E3%81%A3%E3%81%A6%E3%81%84%E3%81%BE%E3%81%99%E3%80%82%E3%81%A9%E3%81%86%E3%81%99%E3%82%8C%E3%81%B0%E3%82%88%E3%81%84%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span><strong>Q. \u51fa\u751f\u524d\u691c\u67fb\u3092\u53d7\u3051\u308b\u304b\u8ff7\u3063\u3066\u3044\u307e\u3059\u3002\u3069\u3046\u3059\u308c\u3070\u3088\u3044\u3067\u3059\u304b\uff1f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u53d7\u3051\u308b\u9078\u629e\u3082\u53d7\u3051\u306a\u3044\u9078\u629e\u3082\u3001\u3069\u3061\u3089\u3082\u3054\u5bb6\u65cf\u306e\u5927\u5207\u306a\u81ea\u5df1\u6c7a\u5b9a\u3067\u3059\u3002\u8ff7\u3046\u6c17\u6301\u3061\u306f\u81ea\u7136\u306a\u3082\u306e\u306a\u306e\u3067\u3001\u4e00\u4eba\u3067\u62b1\u3048\u3053\u307e\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u5c02\u9580\u5bb6\u306b\u76f8\u8ac7\u3059\u308b\u3068\u3001\u691c\u67fb\u3067\u5206\u304b\u308b\u3053\u3068\u30fb\u5206\u304b\u3089\u306a\u3044\u3053\u3068\u3001\u305d\u306e\u5f8c\u306e\u9078\u629e\u80a2\u3092\u4e00\u7dd2\u306b\u6574\u7406\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"border:1px solid #f0d0dc;border-radius:12px;padding:1.2em 1.4em;margin:2.5rem 0 1rem;background:#fffafc;\">\n<p style=\"margin:0 0 0.4em;font-weight:bold;\">\u8457\u8005\u30fb\u76e3\u4fee<\/p>\n<p style=\"margin:0;\">\u5ca1 \u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09\uff0f\u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\uff08\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\uff09\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u5f8c\u3001\u65e5\u672c\u3068\u7c73\u56fd\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3092\u53d6\u5f97\u3002\u65e5\u672c\u306b\u7d0420\u4eba\u3057\u304b\u3044\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3002YouTube\u300c\u3072\u308d\u3057\u5148\u751f\u306e\u6b63\u3057\u3044\u30a8\u30d3\u30c7\u30f3\u30b9\u598a\u5a20ch\u300d\u306a\u3069\u3067\u3001\u30a8\u30d3\u30c7\u30f3\u30b9\u306b\u3082\u3068\u3065\u304f\u598a\u5a20\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u60c5\u5831\u3092\u767a\u4fe1\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n<\/div>\n\n\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    {\"@type\":\"Question\",\"name\":\"2q31.1\u91cd\u8907\u75c7\u5019\u7fa4\u306fNIPT\u3067\u5206\u304b\u308a\u307e\u3059\u304b\uff1f\",\"acceptedAnswer\":{\"@type\":\"Answer\",\"text\":\"\u3053\u306e\u5fae\u5c0f\u91cd\u8907\u306f\u3001NIPT\uff08\u65b0\u578b\u51fa\u751f\u524d\u8a3a\u65ad\uff09\u306e\u57fa\u672c\u7684\u306a\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u4e00\u90e8\u306e\u65bd\u8a2d\u3067\u306f\u62e1\u5927\u691c\u67fb\u306e\u30aa\u30d7\u30b7\u30e7\u30f3\u9805\u76ee\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u5bfe\u8c61\u7bc4\u56f2\u3084\u691c\u51fa\u7387\u306b\u306f\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u4eee\u306b\u6240\u898b\u304c\u793a\u3055\u308c\u3066\u3082\u3001\u305d\u308c\u3060\u3051\u3067\u306f\u78ba\u5b9a\u3057\u307e\u305b\u3093\u3002\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u7f8a\u6c34\u691c\u67fb\u3084\u7d68\u6bdb\u691c\u67fb\u3067\u63a1\u53d6\u3057\u305f\u7d30\u80de\u3092\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u3067\u8abf\u3079\u308b\u65b9\u6cd5\u304c\u5fc5\u8981\u3067\u3059\u3002\"}},\n 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