{"id":83569,"date":"2024-11-15T15:15:38","date_gmt":"2024-11-15T06:15:38","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83569"},"modified":"2025-07-18T16:57:48","modified_gmt":"2025-07-18T07:57:48","slug":"frias-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/frias-syndrome\/","title":{"rendered":"Frias \u75c7\u5019\u7fa4 \uff0814q22q23\u6b20\u5931\u75c7\u5019\u7fa4\uff09"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 style=\"margin-top:1rem;\">\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081<\/h2><p>14q22q23\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30d5\u30e9\u30a4\u30a2\u30b9\u75c7\u5019\u7fa4\uff1bFrias Syndrome\uff09\u306f\u300114\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75c7\u5019\u7fa4\u306f\u3001\u773c\u3084\u4e0b\u5782\u4f53\u3001\u624b\u8db3\u306b\u7279\u5fb4\u7684\u306a\u7570\u5e38\u3092\u4f34\u3044\u3001\u767a\u9054\u9045\u5ef6\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u6cd5\u3001\u5c06\u6765\u306e\u898b\u901a\u3057\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p><\/div>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 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 class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 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>\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/frias-syndrome\/#%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\" >\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/frias-syndrome\/#%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\" >\u5c06\u6765\u306e\u898b\u901a\u3057<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/frias-syndrome\/#%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\" >\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/frias-syndrome\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E6%B0%97%E3%81%AE%E5%88%A5%E7%A7%B0\"><\/span>\u75c5\u6c17\u306e\u5225\u79f0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>14q22q23\u6b20\u5931\u75c7\u5019\u7fa4, \u6210\u9577\u969c\u5bb3-\u77ed\u6307\u75c7-\u5f62\u614b\u7570\u5e38\u75c7\u5019\u7fa4\uff08Growth deficiency-brachydactyly-dysmorphism syndrome\uff09<\/p>\n\n\n\n    <a href=\"\/nipt\/duplications-of-distal-14q\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u9060\u4f4d14q\u306e\u91cd\u8907 <\/div>\n          <div class=\"blog-card-excerpt\">...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\"><\/span>\u75be\u60a3\u6982\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"23\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/14q22.1-q23.3-hgtIdeo_genome_13ca7_b93990-1024x23.png\" alt=\"14q22.1-q23.3\" class=\"wp-image-89019\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>14q22q23\u5fae\u6b20\u5931\u75c7\u5019\u7fa4\uff08Frias\u75c7\u5019\u7fa4\u3068\u3082\u547c\u3070\u308c\u308b\uff09\u306f\u300114\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306b\u306f\u3001\u8eab\u4f53\u7684\u3001\u767a\u9054\u7684\u3001\u795e\u7d4c\u5b66\u7684\u306a\u3055\u307e\u3056\u307e\u306a\u7279\u5fb4\u304c\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u75c7\u72b6\u306e\u7bc4\u56f2\u3084\u91cd\u75c7\u5ea6\u306f\u3001\u6b20\u5931\u306e\u5927\u304d\u3055\u3084\u4f4d\u7f6e\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002Frias\u75c7\u5019\u7fa4\u306e\u4e3b\u306a\u7279\u5fb4\u306b\u306f\u3001\u773c\u3001\u4e0b\u5782\u4f53\u3001\u624b\u8db3\u306e\u7570\u5e38\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u767a\u9054\u9045\u5ef6\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u3053\u306e\u75be\u60a3\u306e\u6709\u75c5\u7387\u306f\u3001100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u975e\u5e38\u306b\u7a00\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u773c\u306e\u7570\u5e38\u306f\u4e00\u822c\u7684\u3067\u3001\u7121\u773c\u75c7\uff08\u7247\u65b9\u307e\u305f\u306f\u4e21\u65b9\u306e\u76ee\u304c\u6b20\u5982\uff09\u3001\u5c0f\u773c\u7403\u75c7\uff08\u7570\u5e38\u306b\u5c0f\u3055\u306a\u76ee\uff09\u3001\u8efd\u5ea6\u306e\u773c\u7403\u7a81\u51fa\u3001\u773c\u77bc\u4e0b\u5782\uff08\u307e\u3076\u305f\u306e\u5782\u308c\u4e0b\u304c\u308a\uff09\u3001\u773c\u9593\u89e3\u96e2\uff08\u76ee\u306e\u9593\u304c\u5e83\u3044\u72b6\u614b\uff09\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e0b\u5782\u4f53\u306e\u7570\u5e38\u3068\u3057\u3066\u306f\u3001\u767a\u80b2\u4e0d\u5168\uff08\u4e0b\u5782\u4f53\u306e\u672a\u767a\u9054\uff09\u3084\u7121\u5f62\u6210\uff08\u4e0b\u5782\u4f53\u304c\u6b20\u5982\u3057\u305f\u72b6\u614b\uff09\u304c\u3042\u308a\u3001\u3053\u308c\u306b\u3088\u308a\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u6b20\u4e4f\u3084\u6210\u9577\u9045\u5ef6\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u8db3\u306e\u7570\u5e38\u3068\u3057\u3066\u306f\u3001\u77ed\u304f\u56db\u89d2\u3044\u5f62\u3092\u3057\u305f\u624b\u3001\u7b2c\u4e8c\u6307\u3068\u7b2c\u4e09\u6307\u306e\u9593\u306e\u8efd\u5ea6\u306e\u5408\u6307\u75c7\uff08\u6307\u306e\u90e8\u5206\u7684\u306a\u7652\u5408\uff09\u3001\u591a\u6307\u75c7\uff08\u4f59\u5206\u306a\u6307\u304c\u3042\u308b\u72b6\u614b\uff09\u3001\u5c0f\u3055\u304f\u5e45\u5e83\u3044\u8db3\u306e\u89aa\u6307\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u4e00\u90e8\u306e\u60a3\u8005\u3067\u306f\u3001\u5c0f\u6307\u3084\u8db3\u306e\u5c0f\u6307\u306e\u5f8c\u308d\u306b\u4ed8\u5c5e\u7269\u306e\u3088\u3046\u306a\u7a81\u8d77\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u30cf\u30a4\u30a2\u30fc\u30c1\uff08\u8db3\u306e\u7532\u304c\u9ad8\u3044\u72b6\u614b\uff09\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u4f4e\u4e0b\u3057\u305f\u72b6\u614b\uff09\u3001\u4f4e\u8eab\u9577\u304c\u8ffd\u52a0\u306e\u7279\u5fb4\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/28793493_s.jpg\" alt=\"\u5b50\u4f9b\u3092\u62b1\u3044\u3066\u3044\u308b\u5973\u6027\" class=\"wp-image-88004\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>Frias\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306b\u306f\u3001\u9854\u306e\u975e\u5bfe\u79f0\u6027\u3001\u5c0f\u984e\u75c7\uff08\u5c0f\u3055\u304f\u5f8c\u9000\u3057\u305f\u984e\uff09\u3001\u9ad8\u3044\u30a2\u30fc\u30c1\u72b6\u306e\u53e3\u84cb\u3001\u8033\u306e\u5f62\u614b\u7570\u5e38\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u767a\u9054\u9045\u5ef6\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7cbe\u795e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3082\u983b\u7e41\u306b\u898b\u3089\u308c\u308b\u75c7\u72b6\u3067\u3059\u3002\u305d\u306e\u4ed6\u306e\u53ef\u80fd\u6027\u306e\u3042\u308b\u5408\u4f75\u75c7\u306b\u306f\u3001\u5148\u5929\u6027\u306e\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u5947\u5f62\u3001\u8074\u899a\u969c\u5bb3\u3001\u3055\u307e\u3056\u307e\u306a\u7a0b\u5ea6\u306e\u5f62\u614b\u7570\u5e38\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u3084\u73fe\u308c\u65b9\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u3068\u304f\u306b14q22\u306e\u6b20\u5931\u304c\u5c0f\u3055\u3044\u5834\u5408\u306b\u306f\u3001\u75c7\u72b6\u304c\u8efd\u5ea6\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002Frias\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3092\u9069\u5207\u306b\u7ba1\u7406\u3057\u3001\u60a3\u8005\u306e\u4e88\u5f8c\u3092\u6539\u5584\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u65e9\u671f\u8a3a\u65ad\u3068\u5c0f\u5150\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u3001\u907a\u4f1d\u5b66\u306e\u5c02\u9580\u533b\u306b\u3088\u308b\u591a\u8077\u7a2e\u9023\u643a\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\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<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\"><\/span>\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5b9f\u9a13\u30e2\u30c7\u30eb\u304a\u3088\u3073\u4eba\u9593\u306e\u80da\u767a\u751f\u306b\u95a2\u3059\u308b\u7814\u7a76\u306b\u3088\u308b\u3068\u3001BMP\uff08\u9aa8\u5f62\u6210\u30bf\u30f3\u30d1\u30af\u8cea\uff09\u907a\u4f1d\u5b50\u30d5\u30a1\u30df\u30ea\u30fc\u306f\u3001\u6210\u9577\u306b\u4e0d\u53ef\u6b20\u306a\u5206\u6ccc\u578b\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u5206\u5b50\u306e\u30b9\u30fc\u30d1\u30fc \u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30b3\u30fc\u30c9\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u80da\u306e\u521d\u671f\u767a\u751f\u306b\u304a\u3044\u3066\u3001\u4f53\u306e\u7279\u5b9a\u306e\u69cb\u9020\u3092\u5f62\u6210\u3059\u308b\u904e\u7a0b\u3092\u6307\u63ee\u3059\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>BMP4\u907a\u4f1d\u5b50\u306e\u534a\u6e1b\u91cf\u4e0d\u5168\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306f\u300114q22\u2013q23\u67d3\u8272\u4f53\u9818\u57df\u306b\u304a\u3051\u308b\u7a81\u7136\u5909\u7570\u307e\u305f\u306f\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u3001\u773c\u306e\u7570\u5e38\u3068\u5bc6\u63a5\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002\u4e00\u90e8\u306eBMP\u907a\u4f1d\u5b50\u306f\u3001\u767a\u73fe\u30d1\u30bf\u30fc\u30f3\u304c\u91cd\u306a\u308a\u5408\u3044\u3001\u4e92\u3044\u306e\u6a5f\u80fd\u3092\u88dc\u5b8c\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u304c\u3001BMP4\u307e\u305f\u306fBMP7\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u80da\u767a\u751f\u671f\u306b\u304a\u3051\u308b\u6b63\u5e38\u306a\u773c\u306e\u767a\u9054\u304c\u59a8\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001BMP4\u306f\u814e\u81d3\u3084\u9aa8\u306e\u767a\u9054\u306b\u3082\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002\u80ce\u5150\u306e\u767a\u9054\u306b\u5bc4\u4e0e\u3059\u308b\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u4e2d\u3067\u3082\u3001BMP4\u6a5f\u80fd\u306e\u55aa\u5931\u306f\u3001Frias\u75c7\u5019\u7fa4\u306b\u95a2\u9023\u3059\u308b\u5148\u5929\u6027\u7570\u5e38\u306e\u4e3b\u8981\u306a\u8981\u56e0\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"517\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr14-MddZFBKOAMPfIDKXDYAAAdSZ.png\" alt=\"chr14\" class=\"wp-image-89022\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u767a\u9054\u7570\u5e38\u306e\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u306f\u3001\u51fa\u751f\u524d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5f62\u614b\u7684\u306a\u75c7\u72b6\u304c\u691c\u51fa\u3055\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001\u51fa\u751f\u524d\u86cd\u5149 in situ \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08FISH\uff09\u3084\u7f8a\u6c34\u7a7f\u523a\u306a\u3069\u306e\u4fb5\u8972\u7684\u691c\u67fb\u65b9\u6cd5\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3092\u9ad8\u7cbe\u5ea6\u3067\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u304c\u3001\u6bcd\u4f53\u304a\u3088\u3073\u80ce\u5150\u306e\u5065\u5eb7\u306b\u30ea\u30b9\u30af\u3092\u4f34\u3046\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u65b9\u3001\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u306f\u3001\u598a\u5a20\u4e2d\u306e\u6bcd\u89aa\u306e\u8840\u6db2\u30b5\u30f3\u30d7\u30eb\u306b\u542b\u307e\u308c\u308b\u80ce\u5150DNA\u306e\u7570\u5e38\u3092\u7279\u5b9a\u3067\u304d\u308b\u3001\u5b89\u5168\u3067\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u6cd5\u3067\u3059\u3002\u3053\u306e\u65b9\u6cd5\u306f\u6bcd\u4f53\u3084\u80ce\u5150\u306b\u30ea\u30b9\u30af\u3092\u4e0e\u3048\u305a\u306b\u5b9f\u65bd\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:13px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/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 style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\"><\/span>\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>14q22q23\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u30d5\u30e9\u30a4\u30a2\u30b9\u75c7\u5019\u7fa4\u3068\u3057\u3066\u3082\u77e5\u3089\u308c\u308b\uff09\u306f\u300114\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u306e\u75be\u60a3\u306f\u3001\u8eab\u4f53\u7684\u3001\u767a\u9054\u7684\u3001\u795e\u7d4c\u5b66\u7684\u306b\u3055\u307e\u3056\u307e\u306a\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3057\u3001\u305d\u306e\u91cd\u75c7\u5ea6\u3084\u81e8\u5e8a\u7684\u306a\u7279\u5fb4\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u8efd\u5ea6\u306a\u75c7\u72b6\u306e\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u30b1\u30a2\u304c\u5fc5\u8981\u306a\u91cd\u5ea6\u306e\u75c7\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d5\u30e9\u30a4\u30a2\u30b9\u75c7\u5019\u7fa4\u306e\u4ee3\u8868\u7684\u306a\u7279\u5fb4\u306e\u4e00\u3064\u306f\u3001\u773c\u306e\u7570\u5e38\u3067\u3059\u3002\u3053\u308c\u306b\u306f\u3001\u7121\u773c\u7403\u75c7\uff08\u7247\u76ee\u307e\u305f\u306f\u4e21\u76ee\u304c\u6b20\u5982\u3057\u3066\u3044\u308b\u72b6\u614b\uff09\u3001\u5c0f\u773c\u7403\u75c7\uff08\u7570\u5e38\u306b\u5c0f\u3055\u3044\u76ee\uff09\u3001\u773c\u77bc\u4e0b\u5782\uff08\u307e\u3076\u305f\u304c\u5782\u308c\u4e0b\u304c\u308b\u72b6\u614b\uff09\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u5e83\u304f\u96e2\u308c\u3066\u3044\u308b\u72b6\u614b\uff09\u3001\u8efd\u5ea6\u306e\u773c\u7403\u7a81\u51fa\uff08\u76ee\u304c\u7a81\u304d\u51fa\u305f\u72b6\u614b\uff09\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u8996\u795e\u7d4c\u5f62\u6210\u4e0d\u5168\uff08\u8996\u795e\u7d4c\u306e\u5148\u5929\u7684\u6b20\u5982\uff09\u304c\u3088\u304f\u898b\u3089\u308c\u3001\u8996\u529b\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:11px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/29302916_s.jpg\" alt=\"\u76f2\u4eba\" class=\"wp-image-89335\"\/><\/figure><\/div>\n\n\n<div style=\"height:11px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u8996\u5e8a\u4e0b\u90e8-\u4e0b\u5782\u4f53\u8ef8\u304c\u3057\u3070\u3057\u3070\u5f71\u97ff\u3092\u53d7\u3051\u307e\u3059\u3002\u4e0b\u5782\u4f53\u4f4e\u5f62\u6210\uff08\u767a\u80b2\u4e0d\u5168\uff09\u3084\u7121\u5f62\u6210\uff08\u6b20\u5982\uff09\u304c\u898b\u3089\u308c\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u6b20\u4e4f\u3084\u6210\u9577\u9045\u5ef6\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u3092\u62c5\u3046\u524d\u4e0b\u5782\u4f53\u3082\u767a\u80b2\u4e0d\u5168\u3067\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u7279\u5fb4\u7684\u306a\u4f4e\u8eab\u9577\u304c\u898b\u3089\u308c\u3001\u5185\u5206\u6ccc\u5b66\u7684\u8a55\u4fa1\u3068\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5f71\u97ff\u3092\u53d7\u3051\u305f\u4eba\u3005\u306f\u3001\u77ed\u304f\u56db\u89d2\u3044\u5f62\u306e\u624b\u30012\u672c\u76ee\u30683\u672c\u76ee\u306e\u6307\u306e\u9593\u306e\u8efd\u5ea6\u306e\u7652\u5408\uff08\u6307\u8dbe\u7652\u5408\u75c7\uff09\u3001\u77ed\u6307\u75c7\u3001\u5c0f\u3055\u304f\u5e45\u5e83\u3044\u8db3\u306e\u89aa\u6307\u306a\u3069\u306e\u7279\u5fb4\u3092\u6301\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e00\u90e8\u306e\u4eba\u306b\u306f\u3001\u4e21\u624b\u3084\u4e21\u8db3\u306e\u5c0f\u6307\u306e\u5f8c\u308d\u306b\u4ed8\u5c5e\u7269\u306e\u3088\u3046\u306a\u7a81\u8d77\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u51f9\u8db3\uff08\u8db3\u306e\u30a2\u30fc\u30c1\u304c\u7570\u5e38\u306b\u9ad8\u3044\u72b6\u614b\uff09\u3082\u4e00\u822c\u7684\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u7279\u5fb4\u7684\u306a\u9854\u306e\u7279\u5fb4\u306b\u306f\u3001\u9854\u306e\u975e\u5bfe\u79f0\u6027\u3001\u5c0f\u4e0b\u984e\u75c7\uff08\u5c0f\u3055\u304f\u5f8c\u9000\u3057\u305f\u984e\uff09\u3001\u9ad8\u3044\u30a2\u30fc\u30c1\u3092\u6301\u3064\u53e3\u84cb\u3001\u8033\u306e\u7570\u5e38\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u77ed\u304f\u5e45\u5e83\u3044\u982d\u84cb\u9aa8\uff08\u77ed\u982d\u75c7\uff09\u304c\u3057\u3070\u3057\u3070\u89b3\u5bdf\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5168\u4f53\u7684\u306a\u767a\u9054\u9045\u5ef6\uff08\u904b\u52d5\u767a\u9054\u3084\u7cbe\u795e\u767a\u9054\u306e\u9045\u308c\u3092\u542b\u3080\uff09\u306f\u975e\u5e38\u306b\u4e00\u822c\u7684\u3067\u3059\u3002\u5f71\u97ff\u3092\u53d7\u3051\u305f\u5b50\u3069\u3082\u306f\u3001\u904b\u52d5\u30b9\u30ad\u30eb\u3001\u8a00\u8a9e\u3001\u8a8d\u77e5\u80fd\u529b\u3068\u3044\u3063\u305f\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u3092\u9054\u6210\u3059\u308b\u306e\u304c\u56f0\u96e3\u3067\u3059\u3002\u307e\u305f\u3001\u8133\u6881\u6b20\u640d\uff08\u5de6\u53f3\u306e\u8133\u534a\u7403\u3092\u3064\u306a\u3050\u69cb\u9020\u306e\u6b20\u5982\uff09\u304c\u983b\u7e41\u306b\u5831\u544a\u3055\u308c\u3001\u767a\u9054\u306e\u8ab2\u984c\u3092\u3055\u3089\u306b\u8907\u96d1\u306b\u3057\u307e\u3059\u3002\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u7b4b\u8089\u306e\u7dca\u5f35\u304c\u4f4e\u3044\u72b6\u614b\uff09\u3082\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3067\u3042\u308a\u3001\u904b\u52d5\u80fd\u529b\u3084\u5354\u8abf\u6027\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u5148\u5929\u6027\u306e\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38\uff08\u526f\u814e\u767a\u80b2\u4e0d\u5168\u3092\u542b\u3080\uff09\u3084\u8074\u899a\u969c\u5bb3\u3082\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5916\u8033\u9053\u306e\u6b20\u5982\u3084\u5f62\u6210\u4e0d\u5168\u3082\u983b\u7e41\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31510744_s.jpg\" alt=\"\u7d46\u5275\u818f\" class=\"wp-image-88803\"\/><\/figure><\/div>\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u91cd\u5ea6\u306e\u5f62\u614b\u7570\u5e38\u306f\u3001\u80ce\u5150\u671f\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u691c\u51fa\u3067\u304d\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u67d3\u8272\u4f53\u306e\u7570\u5e38\u306f\u3001\u86cd\u5149 in situ \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08FISH\uff09\u3084\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u89e3\u6790\u306a\u3069\u306e\u9ad8\u5ea6\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u591a\u304f\u306e\u75c7\u72b6\u306f\u51fa\u751f\u5f8c\u307e\u305f\u306f\u5e7c\u5150\u671f\u306b\u660e\u3089\u304b\u306b\u306a\u308a\u307e\u3059\u3002\u81e8\u5e8a\u7684\u306a\u8868\u73fe\u578b\u306e\u5e45\u306f\u5e83\u304f\u3001\u8efd\u5ea6\u306a\u7279\u5fb4\u3092\u793a\u3059\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d5\u30e9\u30a4\u30a2\u30b9\u75c7\u5019\u7fa4\u306b\u306f\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u75c7\u72b6\u306e\u7ba1\u7406\u3068\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u306b\u7126\u70b9\u304c\u7f6e\u304b\u308c\u307e\u3059\u3002\u500b\u3005\u306e\u75c7\u72b6\u3084\u5408\u4f75\u75c7\u306b\u5bfe\u5fdc\u3059\u308b\u305f\u3081\u3001\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u6cbb\u7642\u306b\u306f\u5185\u5206\u6ccc\u7ba1\u7406\u3084\u30db\u30eb\u30e2\u30f3\u6b20\u4e4f\u306e\u6cbb\u7642\u3001\u8996\u529b\u30b1\u30a2\u3068\u3057\u3066\u306e\u773c\u306e\u7570\u5e38\u306b\u5bfe\u3059\u308b\u624b\u8853\u3084\u6cbb\u7642\u3001\u904b\u52d5\u9045\u5ef6\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306b\u5bfe\u5fdc\u3059\u308b\u767a\u9054\u304a\u3088\u3073\u8eab\u4f53\u7642\u6cd5\u3001\u8074\u899a\u969c\u5bb3\u3078\u306e\u88dc\u52a9\u5177\u3084\u6cbb\u7642\u3001\u9aa8\u683c\u3084\u9854\u9762\u3001\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38\u306b\u5bfe\u3059\u308b\u5916\u79d1\u7684\u6cbb\u7642\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u4f8b\u306b\u5fdc\u3058\u305f\u9577\u671f\u7684\u306a\u30b1\u30a2\u8a08\u753b\u306f\u3001\u5408\u4f75\u75c7\u3092\u8efd\u6e1b\u3057\u3001\u767a\u9054\u306e\u6210\u679c\u3092\u5411\u4e0a\u3055\u305b\u308b\u306e\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002\u77e5\u7684\u304a\u3088\u3073\u884c\u52d5\u4e0a\u306e\u8ab2\u984c\u306b\u5bfe\u5fdc\u3059\u308b\u305f\u3081\u3001\u5fc3\u7406\u7684\u304a\u3088\u3073\u6559\u80b2\u7684\u652f\u63f4\u304c\u5bb6\u65cf\u306b\u3082\u5fc5\u8981\u3067\u3059\u3002\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3068\u65e9\u671f\u4ecb\u5165\u306b\u3088\u308a\u3001\u30d5\u30e9\u30a4\u30a2\u30b9\u75c7\u5019\u7fa4\u306e\u4e88\u5f8c\u3092\u5927\u5e45\u306b\u6539\u5584\u3059\u308b\u3053\u3068\u304c\u671f\u5f85\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=\"%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span>\u5c06\u6765\u306e\u898b\u901a\u3057<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u7684\u306a\u75c7\u72b6\u306e\u767a\u751f\u7387\u3084\u91cd\u75c7\u5ea6\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308b\u305f\u3081\u3001\u8efd\u75c7\u306e\u30b1\u30fc\u30b9\u304c\u5831\u544a\u3055\u308c\u305a\u306b\u898b\u904e\u3054\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u90e8\u306e\u5b50\u3069\u3082\u305f\u3061\u306f\u3001\u65b0\u751f\u5150\u671f\u3084\u4e73\u5150\u671f\u306b\u5927\u898f\u6a21\u306a\u624b\u8853\u3092\u5fc5\u8981\u3068\u3057\u3001\u91cd\u75c7\u4f8b\u3067\u306f\u4e88\u5f8c\u304c\u975e\u5e38\u306b\u53b3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u307e\u3067\u306e\u81e8\u5e8a\u8a18\u9332\u306b\u306f\u3001\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u3057\u3001\u7d50\u5a5a\u3057\u3066\u5b50\u3069\u3082\u3092\u6301\u3064\u3053\u3068\u304c\u3067\u304d\u305f\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%82%E3%81%A3%E3%81%A8%E7%9F%A5%E3%82%8A%E3%81%9F%E3%81%84%E6%96%B9%E3%81%B8\"><\/span>\u3082\u3063\u3068\u77e5\u308a\u305f\u3044\u65b9\u3078<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3010\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u3011\u30e6\u30cb\u30fc\u30af\uff08Unique\uff09\u306b\u3088\u308b14q22\u306814q32\u306e\u9593\u306e14q\u6b20\u5931\u306b\u95a2\u3059\u308b\u60c5\u5831<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%2014\/14q%20deletions%20between%2014q22%20and%2014q32%20FTNW.pdf\">\u30b7\u30fc\u30c8<\/a><\/p>\n\n\n\n<p>\u3010\u5199\u771f\u3042\u308a\u30fb\u82f1\u8a9e\u301114\u756a\u76ee<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u30b5\u30dd\u30fc\u30c8\u30b0\u30eb\u30fc\u30d7 \uff08Ring14\uff09<a href=\"https:\/\/ring14usa.com\/\">\u30a6\u30a7\u30d6\u30b5\u30a4\u30c8<\/a><\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/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 style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.36224\">Mart\u00ednez\u2010Fern\u00e1ndez, M. L., Bermejo\u2010S\u00e1nchez, E., Fern\u00e1ndez, B., MacDonald, A., Fern\u00e1ndez\u2010Toral, J., &amp; Mart\u00ednez\u2010Fr\u00edas, M. L. (2014). Haploinsufficiency of <em>BMP<\/em> <em>4<\/em> gene may be the underlying cause of Fr\u00edas syndrome. <em>American Journal of Medical Genetics Part A<\/em>, <em>164<\/em>(2), 338\u2013345. https:\/\/doi.org\/10.1002\/ajmg.a.36224<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.30875\">Mart\u00ednez-Fr\u00edas, M. L., Toral, J. F., L\u00f3pez-Grondona, F., Mendioroz, J., &amp; Bermejo, E. (2005). Growth deficiency, facial anomalies, and brachydactyly (Fr\u00edas syndrome): a second family. <em>American journal of medical genetics. Part A<\/em>, <em>137A<\/em>(3), 288\u2013291. https:\/\/doi.org\/10.1002\/ajmg.a.30875<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1111\/epi.16754\">Vaisfeld, A., Spartano, S., Gobbi, G., Vezzani, A., &amp; Neri, G. (2021). Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma. <em>Epilepsia<\/em>, <em>62<\/em>(1), 25\u201340. https:\/\/doi.org\/10.1111\/epi.16754<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. 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