{"id":83571,"date":"2024-11-15T15:39:55","date_gmt":"2024-11-15T06:39:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83571"},"modified":"2026-07-20T06:22:52","modified_gmt":"2026-07-19T21:22:52","slug":"14q24-1-q24-3-microdeletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/","title":{"rendered":"14q24.1-q24.3 \u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4"},"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><strong>14q24.1-q24.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306f\u300114\u756a\u67d3\u8272\u4f53\u306e\u9577\u3044\u8155\uff08\u9577\u8155\uff09\u306b\u3042\u308bq24.1\u304b\u3089q24.3\u307e\u3067\u306e\u7bc4\u56f2\u306e\u907a\u4f1d\u60c5\u5831\u304c\u5931\u308f\u308c\u308b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u67d3\u8272\u4f53\u306e\u5909\u5316\u3067\u3059\u3002<\/strong>\u3053\u306e\u7bc4\u56f2\u306b\u306f50\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3001\u305d\u306e\u3046\u30619\u3064\u307b\u3069\u306f\u7279\u5b9a\u306e\u75c5\u6c17\u3068\u95a2\u9023\u3059\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u304c\u3001\u307b\u3068\u3093\u3069\u306f\u300c\u6f5c\u6027\uff08\u52a3\u6027\uff09\u300d\u306e\u75c5\u6c17\u3067\u3042\u308a\u3001\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u3051\u308b\u3060\u3051\u3067\u306f\u901a\u5e38\u767a\u75c7\u3057\u307e\u305b\u3093\u3002\u5b9f\u969b\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3067\u306f\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8a00\u8449\u306e\u767a\u9054\u306e\u9045\u308c\u3001\u6307\u306e\u77ed\u3055\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/intellectual-disability-facial-features-facts\/\">\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d<\/a>\uff09\u306a\u3069\u304c\u4e2d\u5fc3\u3067\u3001\u6b20\u5931\u306e\u5927\u304d\u3055\u306b\u3088\u3063\u3066\u75c7\u72b6\u306f\u4eba\u3054\u3068\u306b\u5927\u304d\u304f\u7570\u306a\u308a\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\u6a19\u6e96\u7684\u306a\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u78ba\u5b9a\u306b\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u304c\u5fc5\u8981\u3067\u3059\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 style=\"font-weight:bold;font-size:1.05em;margin-top:0;\">\u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin-bottom:0;\">\n<li>14q24.1-q24.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u5909\u5316\u304b\u3001\u306a\u305c\u4eba\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u91cd\u3055\u304c\u9055\u3046\u306e\u304b<\/li>\n<li>\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u4e3b\u306a\u907a\u4f1d\u5b50\uff08ZFYVE26\u30fbGPHN\u30fbDNAL1\u30fbCOQ6\u30fbABCD4\u30fbTTLL5\u30fbIRF2BPL\u30fbPOMT2\u30fbPSEN1\u307b\u304b\uff09\u3068\u95a2\u9023\u75be\u60a3<\/li>\n<li>\u300c\u6f5c\u6027\uff08\u52a3\u6027\uff09\u300d\u306e\u75c5\u6c17\u304c\u3001\u306a\u305c\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u3051\u308b\u3060\u3051\u3067\u306f\u901a\u5e38\u767a\u75c7\u3057\u306a\u3044\u306e\u304b<\/li>\n<li>NIPT\u3068\u306e\u95a2\u4fc2\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\u306b\u3088\u308b\u78ba\u5b9a\u8a3a\u65ad\u306e\u6d41\u308c<\/li>\n<li>\u75c7\u72b6\u3078\u306e\u5bfe\u5fdc\u30fb\u533b\u7642\u7684\u652f\u63f4\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 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 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#14q241-q243%E5%BE%AE%E5%B0%8F%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF\" >14q24.1-q24.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%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\" >\u3069\u306e\u304f\u3089\u3044\u7a00\u306a\u75c5\u6c17\u306a\u306e\u304b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%E6%AC%A0%E5%A4%B1%E3%81%AE%E7%AF%84%E5%9B%B2%E3%81%AB%E3%82%88%E3%81%A3%E3%81%A6%E7%97%87%E7%8A%B6%E3%81%AE%E7%8F%BE%E3%82%8C%E6%96%B9%E3%81%8C%E5%A4%89%E3%82%8F%E3%82%8B\" >\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u304c\u5909\u308f\u308b<\/a><\/li><\/ul><\/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\/14q24-1-q24-3-microdeletion-syndrome\/#%E3%81%93%E3%81%AE%E9%A0%98%E5%9F%9F%E3%81%AB%E3%81%82%E3%82%8B%E4%B8%BB%E3%81%AA%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3\" >\u3053\u306e\u9818\u57df\u306b\u3042\u308b\u4e3b\u306a\u907a\u4f1d\u5b50\u3068\u95a2\u9023\u75be\u60a3<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%E3%81%BB%E3%81%A8%E3%82%93%E3%81%A9%E3%81%AF%E3%80%8C%E6%BD%9C%E6%80%A7%EF%BC%88%E5%8A%A3%E6%80%A7%EF%BC%89%E3%80%8D%E3%81%AE%E7%97%85%E6%B0%97%EF%BD%9C%E7%89%87%E6%96%B9%E3%81%8C%E6%AC%A0%E3%81%91%E3%82%8B%E3%81%A0%E3%81%91%E3%81%A7%E3%81%AF%E9%80%9A%E5%B8%B8%E7%99%BA%E7%97%87%E3%81%97%E3%81%AA%E3%81%84%E7%90%86%E7%94%B1\" >\u307b\u3068\u3093\u3069\u306f\u300c\u6f5c\u6027\uff08\u52a3\u6027\uff09\u300d\u306e\u75c5\u6c17\uff5c\u7247\u65b9\u304c\u6b20\u3051\u308b\u3060\u3051\u3067\u306f\u901a\u5e38\u767a\u75c7\u3057\u306a\u3044\u7406\u7531<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%E4%BE%8B%E5%A4%96%EF%BD%9CIRF2BPL%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8NEDAMSS%EF%BC%88%E9%A1%95%E6%80%A7%E3%83%BB%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%EF%BC%89\" 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF\" >\u539f\u56e0\u3068\u907a\u4f1d\u306e\u4ed5\u7d44\u307f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%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\" >\u8a3a\u65ad\uff5c\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u3067\u78ba\u5b9a\u3059\u308b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%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\" >\u51fa\u751f\u524d\u691c\u67fb\u3067\u306e\u4f4d\u7f6e\u3065\u3051\uff08NIPT\u3068\u306e\u95a2\u4fc2\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%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\" >\u78ba\u5b9a\u8a3a\u65ad\u306f\u7f8a\u6c34\u691c\u67fb\u30fb\u7d68\u6bdb\u691c\u67fb\u3067<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%E6%A4%9C%E6%9F%BB%E3%81%A7%E6%AC%A0%E5%A4%B1%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\" >\u691c\u67fb\u3067\u6b20\u5931\u304c\u898b\u3064\u304b\u3063\u305f\u3068\u304d\u306e\u5411\u304d\u5408\u3044\u65b9<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%E7%97%87%E7%8A%B6%E3%81%B8%E3%81%AE%E5%AF%BE%E5%BF%9C%E3%81%A8%E5%8C%BB%E7%99%82%E7%9A%84%E6%94%AF%E6%8F%B4\" >\u75c7\u72b6\u3078\u306e\u5bfe\u5fdc\u3068\u533b\u7642\u7684\u652f\u63f4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%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\" >\u5bb6\u65cf\u306e\u652f\u63f4\u3068\u76f8\u8ac7\u3067\u304d\u308b\u7a93\u53e3<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#Q_14q241-q243%E5%BE%AE%E5%B0%8F%E6%AC%A0%E5%A4%B1%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\" >Q. 14q24.1-q24.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306fNIPT\u3067\u5206\u304b\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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#Q_%E8%A1%A8%E3%81%AB%E3%81%9F%E3%81%8F%E3%81%95%E3%82%93%E3%81%AE%E7%97%85%E5%90%8D%E3%81%8C%E4%B8%A6%E3%82%93%E3%81%A7%E3%81%84%E3%81%BE%E3%81%99%E3%81%8C%E3%80%81%E5%85%A8%E9%83%A8%E7%99%BA%E7%97%87%E3%81%99%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u8868\u306b\u305f\u304f\u3055\u3093\u306e\u75c5\u540d\u304c\u4e26\u3093\u3067\u3044\u307e\u3059\u304c\u3001\u5168\u90e8\u767a\u75c7\u3059\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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#Q_PSEN1%E3%81%8C%E5%90%AB%E3%81%BE%E3%82%8C%E3%82%8B%E3%81%A8%E8%81%9E%E3%81%8D%E3%80%81%E3%82%A2%E3%83%AB%E3%83%84%E3%83%8F%E3%82%A4%E3%83%9E%E3%83%BC%E5%9E%8B%E8%AA%8D%E7%9F%A5%E7%97%87%E3%81%8C%E5%BF%83%E9%85%8D%E3%81%A7%E3%81%99%E3%80%82\" >Q. PSEN1\u304c\u542b\u307e\u308c\u308b\u3068\u805e\u304d\u3001\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u578b\u8a8d\u77e5\u75c7\u304c\u5fc3\u914d\u3067\u3059\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#Q_%E3%81%A9%E3%81%86%E3%82%84%E3%81%A3%E3%81%A6%E8%A8%BA%E6%96%AD%E3%81%8C%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u3069\u3046\u3084\u3063\u3066\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#Q_%E8%A6%AA%E3%81%AE%E8%82%B2%E3%81%A6%E6%96%B9%E3%82%84%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E9%81%8E%E3%81%94%E3%81%97%E6%96%B9%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\" >Q. \u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-syndrome\/#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><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q24-1-q24-3-microdeletion-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=\"14q241-q243%E5%BE%AE%E5%B0%8F%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AF\"><\/span>14q24.1-q24.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>14q24.1-q24.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306f\u300114\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308bq24.1\u304b\u3089q24.3\u3068\u3044\u3046\u7bc4\u56f2\u306e\u907a\u4f1d\u60c5\u5831\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u3054\u304f\u7a00\u306a\u5148\u5929\u6027\u306e\u5909\u5316\u3067\u3059\u3002<\/strong>\u3053\u306e\u7bc4\u56f2\u306b\u306f50\u4ee5\u4e0a\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u3046\u3061\u306e\u3044\u304f\u3064\u304b\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u3001\u5fc3\u81d3\u3084\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305a\u306f\u75c5\u6c17\u306e\u5168\u4f53\u50cf\u304b\u3089\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"833\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chromo14.png\" alt=\"14\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155q24.1\u304b\u3089q24.3\u306e\u7bc4\u56f2\u3092\u793a\u3057\u305f\u30a4\u30e1\u30fc\u30b8\u56f3\" class=\"wp-image-91907\"\/><\/figure>\n\n\n\n<p>\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u300d\u3068\u306f\u3001\u67d3\u8272\u4f53\u306e\u3054\u304f\u5c0f\u3055\u306a\u7bc4\u56f2\u306e\u907a\u4f1d\u60c5\u5831\u304c\u5931\u308f\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\u8a73\u3057\u3044\u691c\u67fb\u3067\u521d\u3081\u3066\u5206\u304b\u308b\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002q24.1\u30fbq24.3\u3068\u306f\u3001\u3053\u306e\u9818\u57df\u5185\u306e\u7d30\u304b\u3044\u4f4d\u7f6e\u3092\u793a\u3059\u76ee\u5370\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" 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>\u3069\u306e\u304f\u3089\u3044\u7a00\u306a\u75c5\u6c17\u306a\u306e\u304b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>14q24.1-q24.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306f\u3001\u533b\u5b66\u6587\u732e\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u304c\u6570\u4f8b\u306b\u3068\u3069\u307e\u308b\u304d\u308f\u3081\u3066\u7a00\u306a\u75c5\u6c17\u3067\u3059\u30022014\u5e74\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3067\u306f\u30015.4Mb\u30fb2.8Mb\u30fb2.3Mb\u3068\u3044\u3046\u7570\u306a\u308b\u5927\u304d\u3055\u306e\u6b20\u5931\u3092\u6301\u30643\u540d\u306e\u60a3\u8005\u306b\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u30fb\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u6307\u306e\u77ed\u3055\uff08\u77ed\u6307\u75c7\uff09\u30fb\u773c\u9593\u958b\u96e2\uff08\u4e21\u76ee\u306e\u9593\u304c\u5e83\u3044\uff09\u30fb\u5e83\u3044\u9f3b\u6839\u90e8\u3068\u3044\u3063\u305f\u5171\u901a\u70b9\u304c\u3042\u3063\u305f\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<sup>[1]<\/sup>\u3002\u540c\u3058\u5e74\u306b\u5831\u544a\u3055\u308c\u305f\u5225\u306e\u7537\u5150\u4f8b\u3067\u306f\u30015.345Mb\u306e\u6b20\u5931\u304c\u3042\u308a\u3001\u3051\u3044\u308c\u3093\u30fb\u5148\u5929\u6027\u5fc3\u75be\u60a3\u30fb\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u30fb\u767a\u9054\u306e\u9045\u308c\u306b\u52a0\u3048\u3066\u3001\u6c17\u7ba1\u652f\u3084\u9aa8\u683c\u306e\u7570\u5e38\u3082\u898b\u3089\u308c\u307e\u3057\u305f<sup>[2]<\/sup>\u3002<\/p>\n\n\n\n<p>\u6570\u5b57\u3060\u3051\u3092\u898b\u308b\u3068\u4e0d\u5b89\u306b\u306a\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u75c7\u4f8b\u304c\u5c11\u306a\u3044\u3076\u3093\u3001\u6b20\u5931\u306e\u5927\u304d\u3055\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u4eba\u3054\u3068\u306b\u5927\u304d\u304f\u7570\u306a\u308b\u3001\u3068\u3044\u3046\u70b9\u3092\u307e\u305a\u62bc\u3055\u3048\u3066\u304a\u304f\u3068\u843d\u3061\u7740\u3044\u3066\u5411\u304d\u5408\u3048\u307e\u3059\u3002\u6b20\u5931\u306e\u5927\u304d\u3055\u306b\u3088\u308b\u500b\u4eba\u5dee\u306e\u5927\u304d\u3055\u3002\u3053\u308c\u304c14q24.1-q24.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306e\u7406\u89e3\u3092\u96e3\u3057\u304f\u3057\u3066\u3044\u308b\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%AC%A0%E5%A4%B1%E3%81%AE%E7%AF%84%E5%9B%B2%E3%81%AB%E3%82%88%E3%81%A3%E3%81%A6%E7%97%87%E7%8A%B6%E3%81%AE%E7%8F%BE%E3%82%8C%E6%96%B9%E3%81%8C%E5%A4%89%E3%82%8F%E3%82%8B\"><\/span>\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u304c\u5909\u308f\u308b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u306f\u3001\u4eba\u306b\u3088\u3063\u3066\u5931\u308f\u308c\u308b\u7bc4\u56f2\u306e\u5927\u304d\u3055\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u6b20\u5931\u304c\u5927\u304d\u3044\u307b\u3069\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u6570\u3082\u591a\u304f\u306a\u308a\u3001\u75c7\u72b6\u304c\u91cd\u306a\u308a\u3084\u3059\u304f\u306a\u308b\u50be\u5411\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u53cd\u5bfe\u306b\u3001\u6b20\u5931\u304c\u5c0f\u3055\u304f\u3001\u75c7\u72b6\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u304c\u5c11\u306a\u3044\u5834\u5408\u306f\u3001\u6bd4\u8f03\u7684\u8efd\u3044\u75c7\u72b6\u306b\u3068\u3069\u307e\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u300c14q24.1-q24.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u300d\u3068\u3044\u3046\u8a3a\u65ad\u540d\u3060\u3051\u3067\u306f\u3001\u5b9f\u969b\u306b\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u51fa\u308b\u304b\u3092\u4e00\u5f8b\u306b\u5224\u65ad\u3059\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002\u691c\u67fb\u7d50\u679c\u306b\u8a18\u8f09\u3055\u308c\u305f\u6b20\u5931\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\uff08\u958b\u59cb\u4f4d\u7f6e\u3068\u7d42\u4e86\u4f4d\u7f6e\uff09\u3092\u78ba\u8a8d\u3057\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3092\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u4e00\u7dd2\u306b\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3001\u898b\u901a\u3057\u3092\u7acb\u3066\u308b\u7b2c\u4e00\u6b69\u306b\u306a\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=\"%E3%81%93%E3%81%AE%E9%A0%98%E5%9F%9F%E3%81%AB%E3%81%82%E3%82%8B%E4%B8%BB%E3%81%AA%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E9%96%A2%E9%80%A3%E7%96%BE%E6%82%A3\"><\/span>\u3053\u306e\u9818\u57df\u306b\u3042\u308b\u4e3b\u306a\u907a\u4f1d\u5b50\u3068\u95a2\u9023\u75be\u60a3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>14q24.1-q24.3\u306e\u7bc4\u56f2\u306b\u306f\u3001\u5358\u72ec\u306e\u5909\u7570\u3067\u7279\u5b9a\u306e\u75c5\u6c17\u3092\u8d77\u3053\u3059\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u308b\u907a\u4f1d\u5b50\u304c\u8907\u6570\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u307b\u3068\u3093\u3069\u306f\u300c\u6f5c\u6027\uff08\u52a3\u6027\uff09\u300d\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/strong>\u4e0b\u306e\u8868\u306b\u3001\u73fe\u6642\u70b9\u3067\u95a2\u9023\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u907a\u4f1d\u5b50\u3068\u75be\u60a3\u3092\u307e\u3068\u3081\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<figure class=\"wp-block-table aligncenter\"><table><tbody><tr><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u907a\u4f1d\u5b50\u540d<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u95a2\u9023\u75be\u60a3<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong><\/td><td class=\"has-text-align-center\" data-align=\"center\"><strong>\u4e3b\u306a\u75c7\u72b6\u306e\u7279\u5fb4<\/strong><\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">ZFYVE26<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u6027\u75d9\u6027\u5bfe\u9ebb\u75fa15\u578b\uff08SPG15\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6f5c\u6027\uff08\u52a3\u6027\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u4e0b\u80a2\u306e\u3064\u3063\u3071\u308a\u30fb\u6b69\u884c\u969c\u5bb3\u304c\u9032\u884c\u3057\u3001\u77e5\u7684\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">GPHN<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30e2\u30ea\u30d6\u30c7\u30f3\u88dc\u56e0\u5b50\u6b20\u4e4f\u75c7C\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6f5c\u6027\uff08\u52a3\u6027\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u65b0\u751f\u5150\u671f\u304b\u3089\u306e\u91cd\u3044\u3051\u3044\u308c\u3093\u30fb\u54fa\u4e73\u56f0\u96e3\u304c\u4e2d\u5fc3<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">DNAL1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u539f\u767a\u6027\u7dda\u6bdb\u904b\u52d5\u969c\u5bb316\u578b\uff08CILD16\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6f5c\u6027\uff08\u52a3\u6027\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u7e70\u308a\u8fd4\u3059\u6c17\u7ba1\u652f\u708e\u30fb\u526f\u9f3b\u8154\u708e\u3001\u5185\u81d3\u306e\u5de6\u53f3\u9006\u4f4d\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">COQ6<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u539f\u767a\u6027\u88dc\u9175\u7d20Q10\u6b20\u4e4f\u75c76\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6f5c\u6027\uff08\u52a3\u6027\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30cd\u30d5\u30ed\u30fc\u30bc\u75c7\u5019\u7fa4\uff08\u814e\u6a5f\u80fd\u306e\u4f4e\u4e0b\uff09\u3068\u96e3\u8074\u3092\u5408\u4f75\u3057\u3084\u3059\u3044<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">ENTPD5<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u9032\u884c\u6027\u809d\u814e\u75c7\u30fb\u809d\u816b\u760d\uff08\u52d5\u7269\u5b9f\u9a13\u3067\u306e\u5831\u544a\u304c\u4e2d\u5fc3\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6f5c\u6027\uff08\u52a3\u6027\uff09\u3068\u63a8\u5b9a<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30d2\u30c8\u3067\u306e\u75be\u60a3\u5831\u544a\u306f\u9650\u3089\u308c\u3001\u8a73\u7d30\u306f\u672a\u78ba\u7acb<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">ABCD4<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u30e1\u30c1\u30eb\u30de\u30ed\u30f3\u9178\u5c3f\u75c7\u30fb\u30db\u30e2\u30b7\u30b9\u30c1\u30f3\u5c3f\u75c7cblJ\u578b<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6f5c\u6027\uff08\u52a3\u6027\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u4e73\u5150\u671f\u304b\u3089\u306e\u767a\u9054\u505c\u6ede\u30fb\u8ca7\u8840\u306a\u3069\u306e\u4ee3\u8b1d\u7570\u5e38<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">TTLL5<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5186\u9310\u6746\u4f53\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc19\u578b\uff08CORD19\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6f5c\u6027\uff08\u52a3\u6027\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5c0f\u5150\u671f\u4ee5\u964d\u306b\u9032\u884c\u3059\u308b\u8996\u529b\u4f4e\u4e0b\u30fb\u7f9e\u660e<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">IRF2BPL<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u795e\u7d4c\u767a\u9054\u969c\u5bb3\uff08NEDAMSS\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u9855\u6027\uff08\u512a\u6027\uff09\u30fb\u65b0\u751f\u7a81\u7136\u5909\u7570\u304c\u4e2d\u5fc3<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6b63\u5e38\u767a\u9054\u5f8c\u306e\u9000\u884c\u3001\u3051\u3044\u308c\u3093\u3001\u8a00\u8a9e\u55aa\u5931<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">POMT2<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5148\u5929\u6027\u7b4b\u30b8\u30b9\u30c8\u30ed\u30d5\u30a3\u30fc\uff08\u8133\u30fb\u773c\u306e\u7570\u5e38\u3092\u4f34\u3046A2\u578b\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u6f5c\u6027\uff08\u52a3\u6027\uff09<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u91cd\u3044\u7b4b\u529b\u4f4e\u4e0b\u3068\u8133\u30fb\u773c\u306e\u5f62\u6210\u7570\u5e38<\/td><\/tr><tr><td class=\"has-text-align-center\" data-align=\"center\">PSEN1<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u5bb6\u65cf\u6027\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u578b\u8a8d\u77e5\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u77e5\u3089\u308c\u308b<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u9855\u6027\uff08\u512a\u6027\uff09\u203b\u4e0b\u8a18\u53c2\u7167<\/td><td class=\"has-text-align-center\" data-align=\"center\">\u70b9\u5909\u7570\u3067\u306e\u767a\u75c7\u4f8b\u304c\u4e2d\u5fc3\u3002\u6b20\u5931\u3068\u306e\u95a2\u4fc2\u306f\u6b21\u9805\u3067\u89e3\u8aac<\/td><\/tr><\/tbody><\/table><figcaption>14q24.1-q24.3\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u4e3b\u306a\u907a\u4f1d\u5b50\u3068\u95a2\u9023\u75be\u60a3\uff08UCSC Genome Browser\u30fbEnsembl\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u304a\u3088\u3073\u516c\u8868\u6587\u732e\u3092\u3082\u3068\u306b\u4f5c\u6210\uff09<\/figcaption><\/figure>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%BB%E3%81%A8%E3%82%93%E3%81%A9%E3%81%AF%E3%80%8C%E6%BD%9C%E6%80%A7%EF%BC%88%E5%8A%A3%E6%80%A7%EF%BC%89%E3%80%8D%E3%81%AE%E7%97%85%E6%B0%97%EF%BD%9C%E7%89%87%E6%96%B9%E3%81%8C%E6%AC%A0%E3%81%91%E3%82%8B%E3%81%A0%E3%81%91%E3%81%A7%E3%81%AF%E9%80%9A%E5%B8%B8%E7%99%BA%E7%97%87%E3%81%97%E3%81%AA%E3%81%84%E7%90%86%E7%94%B1\"><\/span>\u307b\u3068\u3093\u3069\u306f\u300c\u6f5c\u6027\uff08\u52a3\u6027\uff09\u300d\u306e\u75c5\u6c17\uff5c\u7247\u65b9\u304c\u6b20\u3051\u308b\u3060\u3051\u3067\u306f\u901a\u5e38\u767a\u75c7\u3057\u306a\u3044\u7406\u7531<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8868\u306e\u591a\u304f\u306e\u75be\u60a3\u306f\u300c\u6f5c\u6027\uff08\u52a3\u6027\uff09\u300d\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002\u6f5c\u6027\u306e\u75c5\u6c17\u306f\u3001\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\uff08\u7236\u89aa\u7531\u6765\u30fb\u6bcd\u89aa\u7531\u6765\u306e\u4e21\u65b9\uff09\u306b\u5909\u5316\u304c\u3042\u308b\u5834\u5408\u306b\u767a\u75c7\u3059\u308b\u306e\u304c\u539f\u5247\u3067\u3059\u3002\u4eca\u56de\u306e\u3088\u3046\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3067\u306f\u3001\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u3060\u3051\u304c\u5931\u308f\u308c\u3001\u3082\u3046\u7247\u65b9\u306f\u6b63\u5e38\u306b\u50cd\u3044\u3066\u3044\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u306e\u305f\u3081\u3001\u305d\u308c\u3060\u3051\u3067\u306f\u767a\u75c7\u3057\u306a\u3044\u30b1\u30fc\u30b9\u304c\u5927\u534a\u3092\u5360\u3081\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u4f8b\u5916\u3082\u3042\u308a\u307e\u3059\u3002\u6b20\u5931\u3067\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u3092\u5931\u3063\u305f\u4eba\u304c\u3001\u6b8b\u308b\u3082\u3046\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u306b\u305f\u307e\u305f\u307e\u5225\u306e\u5909\u7570\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u3001\u6f5c\u6027\u306e\u75c5\u6c17\u304c\u8868\u306b\u51fa\u3066\u304f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u300c\u3082\u3046\u4e00\u65b9\u306e\u30a2\u30ec\u30eb\u306e\u5909\u7570\u304c\u6b20\u5931\u306b\u3088\u3063\u3066\u8868\u9762\u5316\u3059\u308b\u300d\u3068\u8aac\u660e\u3055\u308c\u308b\u4ed5\u7d44\u307f\u3067\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u6b20\u5931\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306f\u3001\u6b8b\u308b\u5074\u306e\u907a\u4f1d\u5b50\u306b\u75c5\u7684\u306a\u5909\u7570\u304c\u306a\u3044\u304b\u3092\u8ffd\u52a0\u306e\u691c\u67fb\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u671b\u307e\u3057\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BE%8B%E5%A4%96%EF%BD%9CIRF2BPL%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8NEDAMSS%EF%BC%88%E9%A1%95%E6%80%A7%E3%83%BB%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A8%EF%BC%89\"><\/span>\u4f8b\u5916\uff5cIRF2BPL\u907a\u4f1d\u5b50\u3068NEDAMSS\uff08\u9855\u6027\u30fb\u30cf\u30d7\u30ed\u4e0d\u5168\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8868\u306e\u4e2d\u3067IRF2BPL\u907a\u4f1d\u5b50\u3060\u3051\u306f\u4e8b\u60c5\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308bNEDAMSS\uff08\u9000\u884c\u30fb\u7570\u5e38\u904b\u52d5\u30fb\u8a00\u8a9e\u55aa\u5931\u30fb\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u795e\u7d4c\u767a\u9054\u969c\u5bb3\uff09\u306f\u300c\u9855\u6027\uff08\u512a\u6027\uff09\u300d\u306e\u75c5\u6c17\u3067\u3001\u591a\u304f\u306f\u304a\u5b50\u3055\u3093\u672c\u4eba\u306b\u65b0\u3057\u304f\u751f\u3058\u305f\u5909\u7570\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u304c\u539f\u56e0\u3067\u3059<sup>[3]<\/sup>\u3002\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u50cd\u304b\u306a\u304f\u306a\u308b\u3060\u3051\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3067\u767a\u75c7\u3057\u3046\u308b\u70b9\u304c\u3001\u4ed6\u306e\u6f5c\u6027\u75be\u60a3\u3068\u306f\u9055\u3046\u4ed5\u7d44\u307f\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u3001\u6b20\u5931\u306e\u7d50\u679c\u8868\u3092\u524d\u306b\u300c\u305f\u304f\u3055\u3093\u306e\u75c5\u540d\u304c\u4e26\u3093\u3067\u3044\u3066\u3001\u5168\u90e8\u767a\u75c7\u3059\u308b\u306e\u3067\u306f\u306a\u3044\u304b\u300d\u3068\u4e0d\u5b89\u3092\u53e3\u306b\u3059\u308b\u3054\u5bb6\u65cf\u306b\u4f55\u5ea6\u3082\u51fa\u4f1a\u3063\u3066\u304d\u307e\u3057\u305f\u3002\u3057\u304b\u3057\u5b9f\u969b\u306b\u306f\u3001\u5927\u534a\u306f\u6f5c\u6027\u306e\u75c5\u6c17\u3067\u3042\u308a\u3001\u3082\u3046\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u304c\u6b63\u5e38\u3067\u3042\u308c\u3070\u767a\u75c7\u3057\u306a\u3044\u30b1\u30fc\u30b9\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u8868\u306b\u4e26\u3076\u75c5\u540d\u306e\u6570\u304c\u305d\u306e\u307e\u307e\u767a\u75c7\u30ea\u30b9\u30af\u306e\u6570\u3092\u610f\u5473\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"PSEN1%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6%E6%AD%A3%E3%81%97%E3%81%8F%E7%90%86%E8%A7%A3%E3%81%99%E3%82%8B\"><\/span>PSEN1\u907a\u4f1d\u5b50\u306b\u3064\u3044\u3066\u6b63\u3057\u304f\u7406\u89e3\u3059\u308b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>PSEN1\u306f\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u578b\u8a8d\u77e5\u75c7\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u5e83\u304f\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u306e\u95a2\u9023\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u308b\u306e\u306f\u4e3b\u306b\u7279\u5b9a\u306e\u70b9\u5909\u7570\uff08\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\uff09\u3092\u6301\u3064\u5834\u5408\u3067\u3059\u3002\u6d77\u5916\u306e\u7814\u7a76\u3067\u306f\u3001PSEN1\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5b8c\u5168\u306b\u5931\u308f\u308c\u308b\u5909\u5316\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3067\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u578b\u8a8d\u77e5\u75c7\u304c\u8d77\u3053\u308b\u3068\u3044\u3046\u8a3c\u62e0\u306f\u73fe\u6642\u70b9\u3067\u793a\u3055\u308c\u3066\u3044\u306a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<sup>[4]<\/sup>\u3002\u3064\u307e\u308a\u3001\u4eca\u56de\u306e\u3088\u3046\u306a\u6b20\u5931\u3067\u7247\u65b9\u306ePSEN1\u3092\u5931\u3063\u305f\u5834\u5408\u3068\u3001\u70b9\u5909\u7570\u3092\u6301\u3064\u5834\u5408\u3068\u3067\u306f\u3001\u60f3\u5b9a\u3055\u308c\u308b\u30ea\u30b9\u30af\u306e\u6027\u8cea\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u70b9\u306f\u4e0d\u5b89\u306b\u611f\u3058\u3084\u3059\u3044\u90e8\u5206\u306a\u306e\u3067\u3001\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u6b63\u78ba\u306a\u60c5\u5831\u3092\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<div 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u8a00\u8449\u306e\u767a\u9054\u306e\u9045\u308c\u30fb\u6307\u306e\u77ed\u3055\u30fb\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u304c\u4e2d\u5fc3\u3067\u3001\u6b20\u5931\u306e\u5927\u304d\u3055\u306b\u3088\u3063\u3066\u7d44\u307f\u5408\u308f\u305b\u306f\u4eba\u3054\u3068\u306b\u7570\u306a\u308a\u307e\u3059\u3002<\/strong>\u3053\u3053\u3067\u306f\u6587\u732e\u5831\u544a\u306b\u57fa\u3065\u304f\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3092\u6574\u7406\u3057\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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text-anchor=\"middle\" font-size=\"14\" fill=\"#5a2b3a\">\u4e00\u90e8\u306e\u75c7\u4f8b\u3067<\/text>\n  <rect x=\"480\" y=\"170\" width=\"200\" height=\"90\" rx=\"12\" fill=\"#fbe1eb\"\/>\n  <text x=\"580\" y=\"210\" text-anchor=\"middle\" font-size=\"16\" fill=\"#5a2b3a\">\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044<\/text>\n<\/svg>\n<figcaption>14q24.1-q24.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u306a\u75c7\u72b6\u306e\u30a4\u30e1\u30fc\u30b8<\/figcaption>\n<\/figure>\n\n\n\n<p>\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff08GARD\uff09\u306f\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u3068\u3057\u3066\u3001\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u8a00\u8449\u306e\u767a\u9054\u306e\u9045\u308c\u30fb\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u30fb\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u306a\u3069\uff09\u30fb\u77ed\u6307\u75c7\u30fb\u6a48\u9aa8\u982d\u8131\u81fc\u30fb\u505c\u7559\u7cbe\u5de3\u30fb\u7570\u6240\u6027\u814e\u30fb\u8178\u56de\u8ee2\u7570\u5e38\u306a\u3069\u3092\u6319\u3052\u3066\u3044\u307e\u3059<sup>[5]<\/sup>\u3002\u3053\u308c\u3089\u3059\u3079\u3066\u304c\u4e00\u4eba\u306b\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3067\u3082\u7d44\u307f\u5408\u308f\u305b\u306b\u5e45\u304c\u3042\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u5fc3\u81d3\u306e\u7570\u5e38\u3084\u9aa8\u683c\u306e\u7279\u5fb4\u306f\u51fa\u751f\u5f8c\u306e\u8a3a\u5bdf\u3084\u753b\u50cf\u691c\u67fb\u3067\u6bd4\u8f03\u7684\u65e9\u671f\u306b\u6c17\u3065\u304b\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u4e00\u65b9\u3001\u77e5\u7684\u306a\u767a\u9054\u306e\u7279\u6027\u306f\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u8a00\u8449\u3084\u5b66\u7fd2\u306e\u69d8\u5b50\u3092\u898b\u3066\u3044\u304f\u4e2d\u3067\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u3044\u304f\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\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=\"%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%81%BA%E4%BC%9D%E3%81%AE%E4%BB%95%E7%B5%84%E3%81%BF\"><\/span>\u539f\u56e0\u3068\u907a\u4f1d\u306e\u4ed5\u7d44\u307f<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>14q24.1-q24.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306e\u591a\u304f\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\u304c\u539f\u56e0\u3067\u3001\u3054\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u3044\u30b1\u30fc\u30b9\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/strong>\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3067\u3082\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306b\u306f\u7570\u5e38\u304c\u898b\u3089\u308c\u306a\u304b\u3063\u305f\u4f8b\u304c\u8907\u6570\u3042\u308a\u307e\u3059<sup>[1][2]<\/sup>\u3002<\/p>\n\n\n\n<p>\u307e\u308c\u306b\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u540c\u3058\u7bc4\u56f2\u306e\u6b20\u5931\u3092\u6301\u3061\u306a\u304c\u3089\u75c7\u72b6\u304c\u3054\u304f\u8efd\u3044\u3001\u307e\u305f\u306f\u76ee\u7acb\u305f\u306a\u3044\u307e\u307e\u7d4c\u904e\u3057\u3066\u3044\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u3092\u8003\u3048\u308b\u969b\u306e\u898b\u901a\u3057\u3092\u7acb\u3066\u305f\u3044\u3068\u304d\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\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u65b0\u751f\u7a81\u7136\u5909\u7570\u304b\u907a\u4f1d\u3057\u305f\u3082\u306e\u304b\u3092\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u751f\u6d3b\u304c\u539f\u56e0\u306b\u306a\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u7d30\u80de\u5206\u88c2\u306e\u904e\u7a0b\u3067\u5076\u767a\u7684\u306b\u8d77\u3053\u308b\u3001\u8ab0\u306b\u3067\u3082\u8d77\u3053\u308a\u3046\u308b\u907a\u4f1d\u7684\u306a\u51fa\u6765\u4e8b\u3067\u3059\u3002\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\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=\"%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>14q24.1-q24.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306f\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\u3068\u3044\u3046\u3001\u67d3\u8272\u4f53\u306e\u3054\u304f\u5c0f\u3055\u306a\u6b20\u5931\u3084\u91cd\u8907\u307e\u3067\u8abf\u3079\u3089\u308c\u308b\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\u3068\u3089\u3048\u3089\u308c\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>\u51fa\u751f\u524d\u691c\u67fb\u3067\u306e\u4f4d\u7f6e\u3065\u3051\uff08NIPT\u3068\u306e\u95a2\u4fc2\uff09<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\u5927\u5207\u306a\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\u56fd\u5185\u5916\u3067\u63d0\u4f9b\u3055\u308c\u3066\u3044\u308b\u62e1\u5927\u691c\u67fb\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30aa\u30d7\u30b7\u30e7\u30f3\uff09\u3067\u3082\u3001\u5bfe\u8c61\u306f22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u30fb5p\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u732b\u9cf4\u304d\u75c7\u5019\u7fa4\uff09\u30fb15q11-13\u9818\u57df\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/detection-of-cri-du-chat-prader-willi-angelman-syndromes\/\">\u30d7\u30e9\u30c0\u30fc\u30fb\u30a6\u30a3\u30ea\u30fc\u75c7\u5019\u7fa4\uff0f\u30a2\u30f3\u30b8\u30a7\u30eb\u30de\u30f3\u75c7\u5019\u7fa4<\/a>\uff09\u306a\u3069\u3001\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u6570\u7a2e\u985e\u306e\u75c7\u5019\u7fa4\u306b\u9650\u3089\u308c\u307e\u3059\u3002<strong>14q24.1-q24.3\u306e\u3088\u3046\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u3001\u73fe\u5728\u306eNIPT\u62e1\u5927\u691c\u67fb\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001NIPT\u3067\u3053\u306e\u6b20\u5931\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u306f\u57fa\u672c\u7684\u306b\u3042\u308a\u307e\u305b\u3093\u3002\u598a\u5a20\u4e2d\u306b\u898b\u3064\u304b\u308b\u5834\u5408\u306f\u3001\u80ce\u5150\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u5fc3\u81d3\u306e\u7570\u5e38\u306a\u3069\u304c\u6307\u6458\u3055\u308c\u3001\u78ba\u5b9a\u691c\u67fb\u306b\u9032\u3093\u3060\u7d50\u679c\u3068\u3057\u3066\u5224\u660e\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u304c\u5b9f\u60c5\u3067\u3059\u3002NIPT\u3067\u8abf\u3079\u3089\u308c\u308b\u9805\u76ee\u306e\u5168\u4f53\u50cf\u306f\u3001<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\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u5168\u4f53\u306e\u4f4d\u7f6e\u3065\u3051\u306f\u3001<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>\u78ba\u5b9a\u8a3a\u65ad\u306f\u7f8a\u6c34\u691c\u67fb\u30fb\u7d68\u6bdb\u691c\u67fb\u3067<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>\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\u5fc3\u81d3\u306e\u7570\u5e38\u304c\u7591\u308f\u308c\u305f\u65b0\u751f\u5150\u3067\u306f\u3001\u3053\u306e\u691c\u67fb\u304c\u8a3a\u65ad\u306e\u304d\u3063\u304b\u3051\u306b\u306a\u308b\u3053\u3068\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\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>14q24.1-q24.3\u6b20\u5931\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>\u73fe\u884c\u306e\u62e1\u5927\u691c\u67fb\u3067\u3082\u5bfe\u8c61\u5916<\/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>\u6b20\u5931\u7bc4\u56f2\u307e\u3067\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>14q24.1-q24.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306b\u95a2\u308f\u308b\u691c\u67fb\u306e\u6bd4\u8f03<\/figcaption><\/figure>\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%A4%9C%E6%9F%BB%E3%81%A7%E6%AC%A0%E5%A4%B1%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\u6b20\u5931\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\u306714q24.1-q24.3\u6b20\u5931\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\u6b20\u5931\u306e\u6b63\u78ba\u306a\u7bc4\u56f2\u3092\u78ba\u8a8d\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\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u73fe\u5834\u3067\u3001\u300c\u805e\u3044\u305f\u3053\u3068\u3082\u306a\u3044\u75c5\u540d\u3067\u3001\u982d\u304c\u771f\u3063\u767d\u306b\u306a\u3063\u305f\u300d\u3068\u8a71\u3059\u3054\u5bb6\u65cf\u306b\u51fa\u4f1a\u3063\u305f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3057\u304b\u3057\u5b9f\u969b\u306b\u306f\u3001\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306e\u591a\u304f\u304c\u8efd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306b\u3068\u3069\u307e\u3063\u3066\u304a\u308a\u3001\u91cd\u3044\u75c7\u72b6\u3070\u304b\u308a\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u5185\u8a33\u3092\u4e00\u3064\u305a\u3064\u78ba\u8a8d\u3057\u3066\u3044\u304f\u3053\u3068\u3002\u305d\u308c\u304c\u6f20\u7136\u3068\u3057\u305f\u4e0d\u5b89\u3092\u3001\u5177\u4f53\u7684\u306a\u898b\u901a\u3057\u306b\u5909\u3048\u308b\u8fd1\u9053\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5fc3\u81d3\u306e\u7570\u5e38\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u51fa\u751f\u5f8c\u65e9\u671f\u306b\u5c0f\u5150\u5faa\u74b0\u5668\u306e\u5c02\u9580\u533b\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u529b\u306b\u306a\u308a\u307e\u3059\u3002\u767a\u9054\u306e\u7279\u6027\u306b\u3064\u3044\u3066\u306f\u3001\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3092\u91cd\u306d\u306a\u304c\u3089\u3001\u5fc5\u8981\u306a\u652f\u63f4\u3092\u7d44\u307f\u7acb\u3066\u3066\u3044\u304f\u306e\u304c\u57fa\u672c\u7684\u306a\u6d41\u308c\u3067\u3059\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<\/p>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%E3%81%B8%E3%81%AE%E5%AF%BE%E5%BF%9C%E3%81%A8%E5%8C%BB%E7%99%82%E7%9A%84%E6%94%AF%E6%8F%B4\"><\/span>\u75c7\u72b6\u3078\u306e\u5bfe\u5fdc\u3068\u533b\u7642\u7684\u652f\u63f4<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>14q24.1-q24.3<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u73fe\u308c\u3066\u3044\u308b\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u533b\u7642\u7684\u652f\u63f4\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u80b2\u3061\u3092\u652f\u3048\u3089\u308c\u307e\u3059\u3002<\/strong>\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u306b\u5fdc\u3058\u3066\u3001\u8907\u6570\u306e\u5c02\u9580\u5bb6\u304c\u30c1\u30fc\u30e0\u3067\u95a2\u308f\u3063\u3066\u3044\u304f\u306e\u304c\u57fa\u672c\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5c0f\u5150\u5faa\u74b0\u5668\u79d1\u3067\u306e\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3068\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u5916\u79d1\u7684\u6cbb\u7642\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u8a00\u8449\u3084\u904b\u52d5\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306a\u304a\u5b50\u3055\u3093\u306b\u306f\u3001\u8a00\u8a9e\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u7406\u5b66\u7642\u6cd5\u304c\u5f79\u7acb\u3061\u307e\u3059\u3002\u9aa8\u683c\u306e\u7279\u5fb4\uff08\u6307\u306e\u77ed\u3055\u306a\u3069)\u306b\u3064\u3044\u3066\u306f\u3001\u6a5f\u80fd\u9762\u306b\u652f\u969c\u304c\u306a\u3051\u308c\u3070\u7d4c\u904e\u89b3\u5bdf\u304c\u4e2d\u5fc3\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6574\u5f62\u5916\u79d1\u3068\u9023\u643a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u308c\u306b\u95a2\u9023\u907a\u4f1d\u5b50\u7531\u6765\u306e\u4ee3\u8b1d\u75be\u60a3\u3084\u3051\u3044\u308c\u3093\u3092\u4f34\u3046\u5834\u5408\u306f\u3001\u5c0f\u5150\u795e\u7d4c\u79d1\u30fb\u4ee3\u8b1d\u79d1\u3068\u306e\u9023\u643a\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u307e\u305a\u4f55\u304b\u3089\u59cb\u3081\u308b\u304b\u8ff7\u3063\u305f\u3089\u3001\u304b\u304b\u308a\u3064\u3051\u306e\u5c0f\u5150\u79d1\u3084\u5730\u57df\u306e\u4fdd\u5065\u30bb\u30f3\u30bf\u30fc\u306b\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u305d\u308c\u305e\u308c\u306e\u5c02\u9580\u7a93\u53e3\u3078\u3068\u3064\u306a\u304c\u3063\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\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\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>\u75c7\u4f8b\u6570\u304c\u5c11\u306a\u3044\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\u6d77\u5916\u306e\u60c5\u5831\u306b\u306a\u308a\u307e\u3059\u304c\u3001\u3053\u306e\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u306e\u8a73\u3057\u3044\u8a18\u8f09\u306f\u3001\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\u306e<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\" target=\"_blank\" rel=\"noopener\">GARD\uff08\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\u3001\u82f1\u8a9e\uff09<\/a>\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002\u907a\u4f1d\u6027\u75be\u60a3\u5168\u822c\u306e\u5c02\u9580\u7684\u306a\u60c5\u5831\u306f<a href=\"https:\/\/jshg.jp\/\" target=\"_blank\" rel=\"noopener\">\u65e5\u672c\u4eba\u985e\u907a\u4f1d\u5b66\u4f1a<\/a>\u306e\u30b5\u30a4\u30c8\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\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u3001\u305d\u3057\u3066\u540c\u3058\u7d4c\u9a13\u3092\u6301\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\u533b\u7642\u8cbb\u3084\u7642\u80b2\u306b\u95a2\u3059\u308b\u52a9\u6210\u5236\u5ea6\u3082\u3042\u308b\u305f\u3081\u3001\u5e02\u533a\u753a\u6751\u306e\u7a93\u53e3\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-14-ring-syndrome\/\">14\u756a\u67d3\u8272\u4f53\u306b\u95a2\u308f\u308b\u5225\u306e\u5909\u5316\uff08\u74b0\u72b614\u756a\u67d3\u8272\u4f53\u75c7\u5019\u7fa4\uff09<\/a>\u306b\u3064\u3044\u3066\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001\u3053\u3061\u3089\u306e\u8a18\u4e8b\u3082\u3042\u308f\u305b\u3066\u3054\u89a7\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=\"%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_14q241-q243%E5%BE%AE%E5%B0%8F%E6%AC%A0%E5%A4%B1%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>Q. 14q24.1-q24.3\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306fNIPT\u3067\u5206\u304b\u308a\u307e\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u3044\u3048\u3001\u73fe\u884c\u306eNIPT\u62e1\u5927\u691c\u67fb\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30aa\u30d7\u30b7\u30e7\u30f3\uff09\u306e\u5bfe\u8c61\u306b\u306f\u542b\u307e\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u5bfe\u8c61\u3068\u306a\u308b\u306e\u306f22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/1p-36-deletion-syndrome\/\">1p36\u6b20\u5931\u75c7\u5019\u7fa4<\/a>\u30fb5p\u6b20\u5931\u75c7\u5019\u7fa4\u30fb15q11-13\u9818\u57df\u306a\u3069\u3001\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u6570\u7a2e\u985e\u306e\u75c7\u5019\u7fa4\u3067\u3059\u3002\u598a\u5a20\u4e2d\u306b\u898b\u3064\u304b\u308b\u5834\u5408\u306f\u3001\u80ce\u5150\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306e\u6307\u6458\u3092\u304d\u3063\u304b\u3051\u306b\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\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\u3063\u305f\u7d50\u679c\u3068\u3057\u3066\u5224\u660e\u3059\u308b\u3053\u3068\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E8%A1%A8%E3%81%AB%E3%81%9F%E3%81%8F%E3%81%95%E3%82%93%E3%81%AE%E7%97%85%E5%90%8D%E3%81%8C%E4%B8%A6%E3%82%93%E3%81%A7%E3%81%84%E3%81%BE%E3%81%99%E3%81%8C%E3%80%81%E5%85%A8%E9%83%A8%E7%99%BA%E7%97%87%E3%81%99%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u8868\u306b\u305f\u304f\u3055\u3093\u306e\u75c5\u540d\u304c\u4e26\u3093\u3067\u3044\u307e\u3059\u304c\u3001\u5168\u90e8\u767a\u75c7\u3059\u308b\u306e\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3044\u3044\u3048\u3001\u305d\u3046\u3068\u306f\u9650\u308a\u307e\u305b\u3093\u3002\u8868\u306b\u3042\u308b\u75be\u60a3\u306e\u591a\u304f\u306f\u300c\u6f5c\u6027\uff08\u52a3\u6027\uff09\u300d\u306e\u907a\u4f1d\u5f62\u5f0f\u3067\u3001\u4e21\u65b9\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308b\u5834\u5408\u306b\u767a\u75c7\u3059\u308b\u306e\u304c\u539f\u5247\u3067\u3059\u3002\u4eca\u56de\u306e\u6b20\u5931\u3067\u5931\u308f\u308c\u308b\u306e\u306f\u7247\u65b9\u306e\u907a\u4f1d\u5b50\u3060\u3051\u3067\u3042\u308b\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u306e\u305f\u3081\u3001\u305d\u308c\u3060\u3051\u3067\u767a\u75c7\u3057\u306a\u3044\u30b1\u30fc\u30b9\u304c\u5927\u534a\u3067\u3059\u3002\u4f8b\u5916\u306fIRF2BPL\u907a\u4f1d\u5b50\u304c\u95a2\u308f\u308bNEDAMSS\u3067\u3001\u3053\u3061\u3089\u306f\u7247\u65b9\u304c\u50cd\u304b\u306a\u3044\u3060\u3051\u3067\u767a\u75c7\u3057\u3046\u308b\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_PSEN1%E3%81%8C%E5%90%AB%E3%81%BE%E3%82%8C%E3%82%8B%E3%81%A8%E8%81%9E%E3%81%8D%E3%80%81%E3%82%A2%E3%83%AB%E3%83%84%E3%83%8F%E3%82%A4%E3%83%9E%E3%83%BC%E5%9E%8B%E8%AA%8D%E7%9F%A5%E7%97%87%E3%81%8C%E5%BF%83%E9%85%8D%E3%81%A7%E3%81%99%E3%80%82\"><\/span>Q. PSEN1\u304c\u542b\u307e\u308c\u308b\u3068\u805e\u304d\u3001\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u578b\u8a8d\u77e5\u75c7\u304c\u5fc3\u914d\u3067\u3059\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>PSEN1\u306b\u3088\u308b\u5bb6\u65cf\u6027\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u578b\u8a8d\u77e5\u75c7\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u308b\u306e\u306f\u3001\u4e3b\u306b\u7279\u5b9a\u306e\u70b9\u5909\u7570\u3092\u6301\u3064\u5834\u5408\u3067\u3059\u3002\u6d77\u5916\u306e\u7814\u7a76\u3067\u306f\u3001PSEN1\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5b8c\u5168\u306b\u5931\u308f\u308c\u308b\u5909\u5316\u3060\u3051\u3067\u30a2\u30eb\u30c4\u30cf\u30a4\u30de\u30fc\u578b\u8a8d\u77e5\u75c7\u304c\u8d77\u3053\u308b\u3068\u3044\u3046\u8a3c\u62e0\u306f\u73fe\u6642\u70b9\u3067\u793a\u3055\u308c\u3066\u3044\u306a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u3067\u7247\u65b9\u3092\u5931\u3046\u4eca\u56de\u306e\u30b1\u30fc\u30b9\u3068\u3001\u70b9\u5909\u7570\u3092\u6301\u3064\u30b1\u30fc\u30b9\u3068\u3067\u306f\u3001\u60f3\u5b9a\u3055\u308c\u308b\u30ea\u30b9\u30af\u306e\u6027\u8cea\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E3%81%A9%E3%81%86%E3%82%84%E3%81%A3%E3%81%A6%E8%A8%BA%E6%96%AD%E3%81%8C%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B%E3%81%AE%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u3069\u3046\u3084\u3063\u3066\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u306e\u3067\u3059\u304b\uff1f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3068\u3044\u3046\u3001\u67d3\u8272\u4f53\u306e\u5c0f\u3055\u306a\u6b20\u5931\u3084\u91cd\u8907\u307e\u3067\u8abf\u3079\u3089\u308c\u308b\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002\u51fa\u751f\u524d\u3067\u3042\u308c\u3070<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\u7d30\u80de\u3092\u63a1\u53d6\u3057\u3001\u3053\u306e\u691c\u67fb\u306b\u304b\u3051\u307e\u3059\u3002\u51fa\u751f\u5f8c\u3067\u3042\u308c\u3070\u3001\u304a\u5b50\u3055\u3093\u306e\u8840\u6db2\u304b\u3089<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<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Q_%E8%A6%AA%E3%81%AE%E8%82%B2%E3%81%A6%E6%96%B9%E3%82%84%E5%A6%8A%E5%A8%A0%E4%B8%AD%E3%81%AE%E9%81%8E%E3%81%94%E3%81%97%E6%96%B9%E3%81%8C%E5%8E%9F%E5%9B%A0%E3%81%A7%E3%81%99%E3%81%8B%EF%BC%9F\"><\/span>Q. \u89aa\u306e\u80b2\u3066\u65b9\u3084\u598a\u5a20\u4e2d\u306e\u904e\u3054\u3057\u65b9\u304c\u539f\u56e0\u3067\u3059\u304b\uff1f<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\u75c7\u4f8b\u306e\u591a\u304f\u3067\u3001\u6b20\u5931\u306f\u53d7\u7cbe\u5375\u306e\u6bb5\u968e\u3067\u65b0\u3057\u304f\u751f\u3058\u305f\u5909\u5316\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3067\u3042\u308a\u3001\u3054\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u3042\u308a\u307e\u305b\u3093\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>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<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<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>[1] Oehl-Jaschkowitz, B., Vanakker, O. M., De Paepe, A., Menten, B., Martin, T., Weber, G., Christmann, A., Krier, R., Scheid, S., McNerlan, S. E., McKee, S., &amp; Tzschach, A. (2014). Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability. <a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36321\" target=\"_blank\" rel=\"noopener\">American Journal of Medical Genetics Part A, 164A(3), 620-626.<\/a><\/li>\n<li>[2] Tassano, E., Accogli, A., Panigada, S., Ronchetto, P., Cuoco, C., &amp; Gimelli, G. (2014). Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion. <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC4115490\/\" target=\"_blank\" rel=\"noopener\">Molecular Cytogenetics, 7, 49.<\/a><\/li>\n<li>[3] Tran Mau-Them, F., et al. (2019). De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. <a href=\"https:\/\/www.omim.org\/entry\/618088\" target=\"_blank\" rel=\"noopener\">OMIM #618088 NEDAMSS.<\/a><\/li>\n<li>[4] Sato, T., et al. Talking Point on the role of presenilin mutations in Alzheimer disease. <a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC1796779\/\" target=\"_blank\" rel=\"noopener\">Molecular Neurodegeneration.<\/a><\/li>\n<li>[5] \u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240 <a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21706\/14q241q243-microdeletion-syndrome\" target=\"_blank\" rel=\"noopener\">GARD\uff08Genetic and Rare Diseases Information Center\uff0914q24.1q24.3 microdeletion syndrome<\/a><\/li>\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.<\/a><\/li>\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., et al. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891-D899.<\/a><\/li>\n<\/ul>\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<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"FAQPage\",\n  \"mainEntity\": [\n    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