{"id":83563,"date":"2024-11-15T14:16:34","date_gmt":"2024-11-15T05:16:34","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83563"},"modified":"2026-07-18T05:35:08","modified_gmt":"2026-07-17T20:35:08","slug":"12q15-q21-1-microdeletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-microdeletion-syndrome\/","title":{"rendered":"12q15-q21.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p><strong>NIPT\u306e\u62e1\u5f35\u691c\u67fb\u3084\u51fa\u751f\u5f8c\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3067\u300c12q15-q21.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u7d50\u679c\u3092\u53d7\u3051\u53d6\u308a\u3001\u805e\u304d\u6163\u308c\u306a\u3044\u75c5\u540d\u306b\u6238\u60d1\u3063\u3066\u3044\u3089\u3063\u3057\u3083\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306f12\u756a\u67d3\u8272\u4f53\u306e\u9577\u815515\u756a\u304b\u3089q21.1\u3068\u3044\u3046\u9818\u57df\u304c\u3001\u751f\u307e\u308c\u3064\u304d\u5c0f\u3055\u304f\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/strong>\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u4f8b\u304c\u5341\u6570\u4f8b\u306b\u3068\u3069\u307e\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u7fa4\u3067\u3042\u308a\u3001\u767a\u9054\u306e\u9045\u308c\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u9f3b\u306b\u304b\u304b\u3063\u305f\u8a71\u3057\u65b9\u3001\u8efd\u5ea6\u306e\u9854\u3064\u304d\u306e\u7279\u5fb4\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306a\u3069\u304c\u4e3b\u306a\u75c7\u72b6\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<strong>2019\u5e74\u306e\u7814\u7a76\u3067\u539f\u56e0\u907a\u4f1d\u5b50\u304cCNOT2\u3068\u3044\u30461\u3064\u306e\u907a\u4f1d\u5b50\u306b\u7d5e\u308a\u8fbc\u307e\u308c\u305f<\/strong>\u3053\u3068\u304c\u3001\u3053\u306e\u75c5\u6c17\u3092\u7406\u89e3\u3059\u308b\u3046\u3048\u3067\u91cd\u8981\u306a\u8ee2\u63db\u70b9\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u300112q15-q21.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3084\u75c7\u72b6\u306e\u983b\u5ea6\u3001\u540d\u524d\u304c\u4f3c\u3066\u3044\u308b12q14<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3068\u306e\u95a2\u4fc2\u3001\u78ba\u5b9a\u8a3a\u65ad\u306e\u6d41\u308c\u3001\u6cbb\u7642\u3068\u7642\u80b2\u3001\u3054\u5bb6\u65cf\u304c\u6b21\u306e\u304a\u5b50\u3055\u307e\u3092\u8003\u3048\u308b\u3068\u304d\u306e\u6ce8\u610f\u70b9\u307e\u3067\u3092\u6574\u7406\u3057\u307e\u3059\u3002\u533b\u5b66\u8a8c\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u7814\u7a76\u3001\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u306e\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u3001\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u30fb\u539a\u751f\u52b4\u50cd\u7701\u306e\u516c\u7684\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u5831\u544a\u6570\u304c\u9650\u3089\u308c\u308b\u5e0c\u5c11\u306a\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u4e00\u3064\u305a\u3064\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<div class=\"info-box\" style=\"margin:1.5em 0;padding:1.2em 1.4em;background:#f3f8ff;border-left:5px solid #5b9bd5;border-radius:8px;\">\n<p style=\"font-weight:bold;margin-bottom:0.6em;\">\ud83d\udca1 \u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>12q15-q21.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u304c\u3069\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u306e\u5909\u5316\u306a\u306e\u304b\uff08\u81e8\u754c\u9818\u57df\u306e\u5909\u9077\uff09<\/li>\n<li>CNOT2\u30cf\u30d7\u30ed\u4e0d\u516815\u4f8b\u306e\u89e3\u6790\u306b\u3082\u3068\u3065\u304f\u4e3b\u306a\u75c7\u72b6\u306e\u51fa\u73fe\u983b\u5ea6<\/li>\n<li>\u540d\u524d\u304c\u4f3c\u3066\u3044\u308b12q14<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\uff08HMGA2\u907a\u4f1d\u5b50\uff09\u3068\u306e\u9055\u3044<\/li>\n<li>\u539f\u56e0\u907a\u4f1d\u5b50CNOT2\u306e\u50cd\u304d\u3068CCR4-NOT\u8907\u5408\u4f53\u3068\u306e\u95a2\u4fc2<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3067\u3053\u306e\u75c5\u6c17\u304c\u7591\u308f\u308c\u308b\u30b1\u30fc\u30b9\u3068\u691c\u67fb\u306e\u9650\u754c<\/li>\n<li>\u78ba\u5b9a\u8a3a\u65ad\u306e\u6d41\u308c\u3068\u3001\u6cbb\u7642\u30fb\u7642\u80b2\u306e\u8003\u3048\u65b9<\/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\/12q15-q21-1-microdeletion-syndrome\/#1_12q15-q211%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%EF%BC%88%E6%9F%93%E8%89%B2%E4%BD%93%E9%A0%98%E5%9F%9F%E3%81%A8%E8%87%A8%E7%95%8C%E9%A0%98%E5%9F%9F%E3%81%AE%E5%A4%89%E9%81%B7%EF%BC%89\" >1. 12q15-q21.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u67d3\u8272\u4f53\u9818\u57df\u3068\u81e8\u754c\u9818\u57df\u306e\u5909\u9077\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-microdeletion-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%88CNOT2%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A815%E4%BE%8B%E3%81%AE%E8%A7%A3%E6%9E%90%E3%83%87%E3%83%BC%E3%82%BF%EF%BC%89\" >2. \u4e3b\u306a\u75c7\u72b6\uff08CNOT2\u30cf\u30d7\u30ed\u4e0d\u516815\u4f8b\u306e\u89e3\u6790\u30c7\u30fc\u30bf\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-microdeletion-syndrome\/#%E7%99%BA%E9%81%94%E3%83%BB%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\" >\u767a\u9054\u30fb\u795e\u7d4c\u5b66\u7684\u306a\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-microdeletion-syndrome\/#%E9%A1%94%E3%81%A4%E3%81%8D%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u9854\u3064\u304d\u306e\u7279\u5fb4<\/a><\/li><\/ul><\/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\/12q15-q21-1-microdeletion-syndrome\/#3_12q14%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%AE%E9%81%95%E3%81%84%EF%BC%88%E9%9A%A3%E6%8E%A5%E3%81%99%E3%82%8B%E5%88%A5%E3%81%AE%E7%96%BE%E6%82%A3%EF%BC%89\" >3. 12q14\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044\uff08\u96a3\u63a5\u3059\u308b\u5225\u306e\u75be\u60a3\uff09<\/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\/12q15-q21-1-microdeletion-syndrome\/#4_%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90CNOT2%E3%81%A8CCR4-NOT%E8%A4%87%E5%90%88%E4%BD%93\" >4. \u539f\u56e0\u907a\u4f1d\u5b50CNOT2\u3068CCR4-NOT\u8907\u5408\u4f53<\/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\/12q15-q21-1-microdeletion-syndrome\/#5_%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%88%E5%A4%9A%E3%81%8F%E3%81%AF%E6%96%B0%E7%94%9F%EF%BC%88%E3%83%87%E3%83%8E%E3%83%9C%EF%BC%89%E3%81%AE%E5%A4%89%E5%8C%96%EF%BC%89\" >5. \u907a\u4f1d\u5f62\u5f0f\uff08\u591a\u304f\u306f\u65b0\u751f\uff08\u30c7\u30ce\u30dc\uff09\u306e\u5909\u5316\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-microdeletion-syndrome\/#6_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >6. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-microdeletion-syndrome\/#7_%E8%A8%BA%E6%96%AD%E3%81%8C%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B%E3%81%BE%E3%81%A7%E3%81%AE%E6%B5%81%E3%82%8C\" >7. \u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u307e\u3067\u306e\u6d41\u308c<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-microdeletion-syndrome\/#%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%EF%BC%88CMA%EF%BC%89%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\" >\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09\u3068\u907a\u4f1d\u5b50\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-microdeletion-syndrome\/#%E4%B8%A1%E8%A6%AA%E3%81%AE%E6%A4%9C%E6%9F%BB%E3%81%A8%E8%87%A8%E5%BA%8A%E7%9A%84%E3%81%AA%E8%A9%95%E4%BE%A1\" >\u4e21\u89aa\u306e\u691c\u67fb\u3068\u81e8\u5e8a\u7684\u306a\u8a55\u4fa1<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-microdeletion-syndrome\/#8_%E6%B2%BB%E7%99%82%E3%83%BB%E7%99%82%E8%82%B2%E7%9A%84%E3%81%AA%E6%94%AF%E6%8F%B4\" >8. \u6cbb\u7642\u30fb\u7642\u80b2\u7684\u306a\u652f\u63f4<\/a><\/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\/12q15-q21-1-microdeletion-syndrome\/#9_%E4%BA%88%E5%BE%8C%E3%81%A8%E8%A6%8B%E9%80%9A%E3%81%97\" >9. \u4e88\u5f8c\u3068\u898b\u901a\u3057<\/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\/12q15-q21-1-microdeletion-syndrome\/#10_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E6%94%AF%E6%8F%B4%E3%81%A8%E3%80%81%E6%AC%A1%E3%81%AE%E3%81%8A%E5%AD%90%E3%81%95%E3%81%BE%E3%82%92%E8%80%83%E3%81%88%E3%82%8B%E3%81%A8%E3%81%8D%E3%81%AB\" >10. \u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u3068\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3092\u8003\u3048\u308b\u3068\u304d\u306b<\/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\/12q15-q21-1-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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-microdeletion-syndrome\/#12q15-q211%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%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >12q15-q21.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-microdeletion-syndrome\/#%E3%81%A9%E3%81%AE%E3%81%8F%E3%82%89%E3%81%84%E3%81%AE%E9%A0%BB%E5%BA%A6%E3%81%A7%E8%B5%B7%E3%81%93%E3%82%8B%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<\/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\/12q15-q21-1-microdeletion-syndrome\/#12q14%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%E3%81%A9%E3%81%86%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >12q14\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<\/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\/12q15-q21-1-microdeletion-syndrome\/#%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\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\/12q15-q21-1-microdeletion-syndrome\/#%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AFNIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3053\u306e\u75c5\u6c17\u306fNIPT\u3067\u5206\u304b\u308a\u307e\u3059\u304b\u3002<\/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\/12q15-q21-1-microdeletion-syndrome\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q15-q21-1-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=\"1_12q15-q211%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%EF%BC%88%E6%9F%93%E8%89%B2%E4%BD%93%E9%A0%98%E5%9F%9F%E3%81%A8%E8%87%A8%E7%95%8C%E9%A0%98%E5%9F%9F%E3%81%AE%E5%A4%89%E9%81%B7%EF%BC%89\"><\/span><strong>1. 12q15-q21.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff08\u67d3\u8272\u4f53\u9818\u57df\u3068\u81e8\u754c\u9818\u57df\u306e\u5909\u9077\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>12q15-q21.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306f\u300112\u756a\u67d3\u8272\u4f53\u306e\u9577\u815515\u756a\u304b\u3089q21.1\u3068\u3044\u3046\u9818\u57df\u304c\u3001\u751f\u307e\u308c\u3064\u304d\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/strong>\u6700\u521d\u306b\u5831\u544a\u3055\u308c\u305f\u60a3\u8005\u305f\u3061\u306f12q15\u304b\u3089q21.1\u306b\u304b\u3051\u3066\u306e\u6bd4\u8f03\u7684\u5e83\u3044\u7bc4\u56f2\u3067\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u305f\u305f\u3081\u3001\u3053\u306e\u547c\u3073\u540d\u304c\u3064\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u5f8c\u306e\u7814\u7a76\u3067\u3001\u75c7\u72b6\u306e\u539f\u56e0\u306b\u306a\u3063\u3066\u3044\u308b\u672c\u4f53\u306e\u9818\u57df\u306f\u3088\u308a\u72ed\u3044\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u304d\u307e\u3057\u305f\u30022017\u5e74\u306b\u767a\u8868\u3055\u308c\u305f\u518d\u8a55\u4fa1\u7814\u7a76\u3067\u306f\u3001\u5148\u884c\u3059\u308b5\u4f8b\u306e\u60a3\u8005\u306b\u5171\u901a\u3059\u308b\u91cd\u8907\u9818\u57df\uff08Small Region of Overlap\uff09\u304c1.3\u30e1\u30ac\u5869\u57fa\u307e\u3067\u7d5e\u308a\u8fbc\u307e\u308c\u30016\u3064\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u307e\u3057\u305f\u3002\u540c\u3058\u7814\u7a76\u3067\u65b0\u305f\u306a\u75c7\u4f8b\u304c\u52a0\u308f\u3063\u305f\u3053\u3068\u3067\u3001\u81e8\u754c\u9818\u57df\u306f\u3055\u3089\u306b742\u30ad\u30ed\u5869\u57fa\u307e\u3067\u7e2e\u5c0f\u3057\u3001CNOT2\u30fbKCNMB4\u30fbPTPRB\u3068\u3044\u30463\u3064\u306e\u907a\u4f1d\u5b50\u306b\u7d5e\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u3057\u30662019\u5e74\u300116\u4eba\u306e\u60a3\u8005\u306e\u6b20\u5931\u7bc4\u56f2\u3092\u6bd4\u8f03\u3057\u305f\u7814\u7a76\u306b\u3088\u308a\u3001\u5171\u901a\u3057\u3066\u5931\u308f\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306fCNOT2\u305f\u30601\u3064\u3067\u3042\u308b\u3053\u3068\u304c\u7a81\u304d\u6b62\u3081\u3089\u308c\u307e\u3057\u305f\u3002<strong>\u73fe\u5728\u3067\u306f\u3001\u3053\u306e\u75c5\u6c17\u306e\u672c\u4f53\u306fCNOT2\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff081\u30b3\u30d4\u30fc\u306e\u6a5f\u80fd\u55aa\u5931\uff09\u3067\u3042\u308b\u3068\u7406\u89e3\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u6b20\u5931\u306e\u5927\u304d\u3055\u306f\u5831\u544a\u4f8b\u306e\u3042\u3044\u3060\u3067\u5e45\u304c\u3042\u308a\u3001\u5927\u304d\u304f\u6b20\u3051\u308b\u60a3\u8005\u307b\u3069\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u306e\u6570\u304c\u5897\u3048\u3001\u75c7\u72b6\u304c\u8907\u96d1\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u4e16\u754c\u3067\u3082\u308f\u305a\u304b\u5341\u6570\u4f8b\u3001\u304d\u308f\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u6982\u5ff5\u3002\u6b21\u306e\u7ae0\u3067\u3001\u5b9f\u969b\u306b\u3069\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u3001\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u898b\u3089\u308c\u308b\u306e\u304b\u3092\u5177\u4f53\u7684\u306b\u898b\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/20p13-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">20p13 \u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">20p13\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u767a\u9054\u9045\u5ef6\u3084\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059\u7a00\u306a\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u65e9\u671f\u652f\u63f4\u3068\u533b\u7642\u7ba1\u7406\u3067\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u671f\u5f85\u3067\u304d...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%88CNOT2%E3%83%8F%E3%83%97%E3%83%AD%E4%B8%8D%E5%85%A815%E4%BE%8B%E3%81%AE%E8%A7%A3%E6%9E%90%E3%83%87%E3%83%BC%E3%82%BF%EF%BC%89\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff08CNOT2\u30cf\u30d7\u30ed\u4e0d\u516815\u4f8b\u306e\u89e3\u6790\u30c7\u30fc\u30bf\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u767a\u9054\u9045\u5ef6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f\u307b\u307c\u5168\u4f8b\u306b\u5171\u901a\u3057\u3001\u7279\u5fb4\u7684\u306a\u9f3b\u58f0\u3084\u9854\u3064\u304d\u3001\u6b69\u884c\u306e\u9045\u308c\u3082\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/strong>2023\u5e74\u306b\u767a\u8868\u3055\u308c\u305f\u5305\u62ec\u7684\u306a\u7814\u7a76\u3067\u306f\u300112q15\u9818\u57df\u306e\u6b20\u5931\u306b\u3088\u308b\u3082\u306e\u3068\u3001CNOT2\u907a\u4f1d\u5b50\u5185\u306e\u70b9\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u3092\u3042\u308f\u305b\u306615\u4f8b\u304c\u89e3\u6790\u3055\u308c\u3001\u4e21\u8005\u306e\u3042\u3044\u3060\u306b\u7d71\u8a08\u7684\u306b\u6709\u610f\u306a\u8868\u73fe\u578b\u306e\u5dee\u306f\u306a\u3044\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3057\u305f\u3002\u3064\u307e\u308a\u3001\u6b20\u5931\u3067\u3082\u70b9\u5909\u7570\u3067\u3082\u3001\u540c\u3058\u75c5\u6c17\u3068\u3057\u3066\u7406\u89e3\u3057\u3066\u3088\u3044\u3068\u3044\u3046\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E3%83%BB%E7%A5%9E%E7%B5%8C%E5%AD%A6%E7%9A%84%E3%81%AA%E7%89%B9%E5%BE%B4\"><\/span>\u767a\u9054\u30fb\u795e\u7d4c\u5b66\u7684\u306a\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u767a\u9054\u9045\u5ef6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u306f15\u4f8b\u4e2d15\u4f8b\uff08100%\uff09\u3068\u3001\u5831\u544a\u3055\u308c\u305f\u3059\u3079\u3066\u306e\u60a3\u8005\u306b\u898b\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u3068\u6b69\u884c\u306e\u7372\u5f97\u306e\u9045\u308c\u306f\u3001\u3044\u305a\u308c\u308215\u4f8b\u4e2d13\u4f8b\uff0887%\uff09\u3002\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\u306f12\u4f8b\u4e2d9\u4f8b\uff0875%\uff09\u306b\u898b\u3089\u308c\u3001\u3053\u306e\u75c5\u6c17\u306e\u540d\u524d\u306e\u7531\u6765\u306b\u3082\u306a\u3063\u3066\u3044\u308b\u9f3b\u306b\u304b\u304b\u3063\u305f\u8a71\u3057\u65b9\uff08\u9f3b\u58f0\uff09\u306f12\u4f8b\u4e2d8\u4f8b\uff0867%\uff09\u306b\u8a8d\u3081\u3089\u308c\u307e\u3057\u305f\u3002\u3066\u3093\u304b\u3093\u767a\u4f5c\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3092\u4f34\u3046\u60a3\u8005\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%94%E3%81%A4%E3%81%8D%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>\u9854\u3064\u304d\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9ad8\u3044\u524d\u984d\u306f14\u4f8b\u4e2d13\u4f8b\uff0893%\uff09\u3001\u77ed\u304f\u4e09\u89d2\u5f62\u306e\u9f3b\u3068\u524d\u3092\u5411\u3044\u305f\u9f3b\u5b54\u306f12\u4f8b\u4e2d12\u4f8b\uff08100%\uff09\u3068\u3001\u307b\u307c\u5168\u4f8b\u306b\u5171\u901a\u3059\u308b\u6240\u898b\u3067\u3059\u3002\u76ee\u304c\u3084\u3084\u843d\u3061\u304f\u307c\u3093\u3067\u898b\u3048\u308b\u6df1\u3044\u773c\u7aa9\u306f12\u4f8b\u4e2d9\u4f8b\uff0875%\uff09\u3001\u5c0f\u3055\u3044\u4e0b\u984e\u3084\u5f8c\u9000\u3057\u305f\u984e\u306f14\u4f8b\u4e2d10\u4f8b\uff0871%\uff09\u3001\u4f4e\u3044\u4f4d\u7f6e\u306b\u3064\u3044\u305f\u8033\u306f15\u4f8b\u4e2d9\u4f8b\uff0860%\uff09\u306b\u898b\u3089\u308c\u307e\u3057\u305f\u3002<strong>\u3053\u308c\u3089\u306e\u9854\u3064\u304d\u306e\u7279\u5fb4\u306f\u52a0\u9f62\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u3066\u3044\u304f\u305f\u3081\u3001\u6210\u9577\u6bb5\u968e\u306b\u3088\u3063\u3066\u5370\u8c61\u304c\u5909\u308f\u308b\u70b9\u3082\u77e5\u3063\u3066\u304a\u3044\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u3068\u3053\u308d\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u75c7\u72b6<\/th><th>\u5831\u544a\u3055\u308c\u305f\u983b\u5ea6<\/th><\/tr><\/thead><tbody><tr><td>\u767a\u9054\u9045\u5ef6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/td><td>100%\uff0815\u4f8b\u4e2d15\u4f8b\uff09<\/td><\/tr><tr><td>\u77ed\u304f\u4e09\u89d2\u5f62\u306e\u9f3b\u30fb\u524d\u5411\u304d\u306e\u9f3b\u5b54<\/td><td>100%\uff0812\u4f8b\u4e2d12\u4f8b\uff09<\/td><\/tr><tr><td>\u9ad8\u3044\u524d\u984d<\/td><td>93%\uff0814\u4f8b\u4e2d13\u4f8b\uff09<\/td><\/tr><tr><td>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c<\/td><td>87%\uff0815\u4f8b\u4e2d13\u4f8b\uff09<\/td><\/tr><tr><td>\u6b69\u884c\u7372\u5f97\u306e\u9045\u308c<\/td><td>87%\uff0815\u4f8b\u4e2d13\u4f8b\uff09<\/td><\/tr><tr><td>\u6df1\u3044\u773c\u7aa9\uff08\u76ee\u306e\u304f\u307c\u307f\uff09<\/td><td>75%\uff0812\u4f8b\u4e2d9\u4f8b\uff09<\/td><\/tr><tr><td>\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/td><td>75%\uff0812\u4f8b\u4e2d9\u4f8b\uff09<\/td><\/tr><tr><td>\u5c0f\u3055\u3044\u4e0b\u984e\u30fb\u5f8c\u9000\u3057\u305f\u984e<\/td><td>71%\uff0814\u4f8b\u4e2d10\u4f8b\uff09<\/td><\/tr><tr><td>\u9f3b\u306b\u304b\u304b\u3063\u305f\u8a71\u3057\u65b9\uff08\u9f3b\u58f0\uff09<\/td><td>67%\uff0812\u4f8b\u4e2d8\u4f8b\uff09<\/td><\/tr><tr><td>\u4f4e\u4f4d\u8033<\/td><td>60%\uff0815\u4f8b\u4e2d9\u4f8b\uff09<\/td><\/tr><tr><td>\u810a\u67f1\u306e\u5074\u5f2f\u30fb\u5f8c\u5f2f<\/td><td>47%\uff0815\u4f8b\u4e2d7\u4f8b\uff09<\/td><\/tr><tr><td>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/td><td>27%\uff0815\u4f8b\u4e2d4\u4f8b\uff09<\/td><\/tr><tr><td>\u690e\u9aa8\u30fb\u4ed9\u9aa8\u306e\u7570\u5e38<\/td><td>27%\uff0815\u4f8b\u4e2d4\u4f8b\uff09<\/td><\/tr><tr><td>\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u7570\u5e38<\/td><td>13%\uff0815\u4f8b\u4e2d2\u4f8b\uff09<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3082\u4e00\u90e8\u306e\u60a3\u8005\u3067\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u51fa\u751f\u5f8c\u306f\u5b9a\u671f\u7684\u306a\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u306e\u30c1\u30a7\u30c3\u30af\u304c\u52e7\u3081\u3089\u308c\u307e\u3059\u3002\u8a3a\u7642\u306e\u5834\u3067\u306f\u300c\u3053\u306e\u5b50\u306f\u5c06\u6765\u3069\u3053\u307e\u3067\u6210\u9577\u3067\u304d\u308b\u306e\u304b\u300d\u3068\u5c0b\u306d\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u3067\u3059\u304c\u3001\u75c7\u72b6\u306e\u91cd\u3055\u306b\u306f\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u4e00\u4eba\u3072\u3068\u308a\u306e\u7d4c\u904e\u3092\u898b\u306a\u304c\u3089\u5224\u65ad\u3057\u3066\u3044\u304f\u5fc5\u8981\u304c\u3042\u308b\u3068\u79c1\u306f\u611f\u3058\u3066\u3044\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=\"3_12q14%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%AE%E9%81%95%E3%81%84%EF%BC%88%E9%9A%A3%E6%8E%A5%E3%81%99%E3%82%8B%E5%88%A5%E3%81%AE%E7%96%BE%E6%82%A3%EF%BC%89\"><\/span><strong>3. 12q14\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306e\u9055\u3044\uff08\u96a3\u63a5\u3059\u308b\u5225\u306e\u75be\u60a3\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u540d\u524d\u304c\u3088\u304f\u4f3c\u3066\u3044\u308b\u300c12q14<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u300d\u306f\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u4e3b\u306a\u75c7\u72b6\u3082\u307e\u3063\u305f\u304f\u7570\u306a\u308b\u3001\u5225\u306e\u75be\u60a3\u3067\u3059\u3002<\/strong>\u3069\u3061\u3089\u308212\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u8fd1\u3044\u4f4d\u7f6e\u306b\u8d77\u3053\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3067\u3059\u304c\u3001\u6df7\u540c\u3059\u308b\u3068\u75c7\u72b6\u306e\u898b\u901a\u3057\u3092\u8aa4\u3063\u3066\u7406\u89e3\u3057\u3066\u3057\u307e\u3046\u6050\u308c\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>12q14<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306f12q13.3\u304b\u3089q15\u306b\u304b\u3051\u3066\u306e\u9818\u57df\u304c\u6b20\u3051\u308b\u75be\u60a3\u3067\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u306fHMGA2\u3067\u3059\u3002HMGA2\u306f\u8eab\u9577\u3092\u6c7a\u3081\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3068\u51fa\u751f\u524d\u5f8c\u304b\u3089\u306e\u6210\u9577\u969c\u5bb3\u30fb\u4f4e\u8eab\u9577\u30fb\u9aa8\u306e\u3042\u3056\uff08Buschke-Ollendorff\u75c5\u5909\uff09\u304c\u4e2d\u5fc3\u7684\u306a\u75c7\u72b6\u306b\u306a\u308a\u307e\u3059\u3002\u4e00\u65b9\u300112q15-q21.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306fCNOT2\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u672c\u4f53\u3067\u3001\u6210\u9577\u969c\u5bb3\u3088\u308a\u3082\u767a\u9054\u9045\u5ef6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u9f3b\u58f0\u30fb\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u304c\u524d\u9762\u306b\u51fa\u308b\u70b9\u304c\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f03\u9805\u76ee<\/th><th>12q15-q21.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4<\/th><th>12q14<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4<\/th><\/tr><\/thead><tbody><tr><td>\u4e3b\u306a\u539f\u56e0\u907a\u4f1d\u5b50<\/td><td>CNOT2<\/td><td>HMGA2<\/td><\/tr><tr><td>\u4e2d\u5fc3\u3068\u306a\u308b\u75c7\u72b6<\/td><td>\u767a\u9054\u9045\u5ef6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u9f3b\u58f0\u30fb\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d<\/td><td>\u51fa\u751f\u524d\u5f8c\u304b\u3089\u306e\u6210\u9577\u969c\u5bb3\u30fb\u4f4e\u8eab\u9577<\/td><\/tr><tr><td>\u9aa8\u30fb\u76ae\u819a\u306e\u6240\u898b<\/td><td>\u76ee\u7acb\u3063\u305f\u6240\u898b\u306f\u5c11\u306a\u3044<\/td><td>\u9aa8\u306e\u3042\u3056\uff08Buschke-Ollendorff\u75c5\u5909\uff09<\/td><\/tr><tr><td>\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7<\/td><td>\u4e00\u90e8\u306e\u75c7\u4f8b\u3067\u5831\u544a\u3042\u308a<\/td><td>\u5831\u544a\u306f\u5c11\u306a\u3044<\/td><\/tr><tr><td>\u907a\u4f1d\u5b50\u306e\u50cd\u304d<\/td><td>CCR4-NOT\u8907\u5408\u4f53\u306b\u3088\u308b\u907a\u4f1d\u5b50\u767a\u73fe\u8abf\u7bc0<\/td><td>\u8eab\u9577\u30fb\u4f53\u683c\u306b\u95a2\u308f\u308b\u8ee2\u5199\u8abf\u7bc0\u56e0\u5b50<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u3054\u81ea\u8eab\u3084\u304a\u5b50\u3055\u307e\u306e\u7d50\u679c\u304c\u300c12q14\u300d\u306a\u306e\u304b\u300c12q15-q21.1\u300d\u306a\u306e\u304b\u3001\u5831\u544a\u66f8\u306e\u8a18\u8f09\u3092\u53d6\u308a\u9055\u3048\u306a\u3044\u3088\u3046\u3001\u62c5\u5f53\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u4e00\u7dd2\u306b\u691c\u67fb\u7d50\u679c\u306e\u539f\u6587\u3092\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12q14-microdeletion-syndrome\/\">12q14\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/12q24-31-q24-33deletion\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u75c7\u4f8b\u5831\u544a12q(12q24.31-q24.33)\u6b20\u5931\u306b\u4f34\u3046\u81ea\u9589\u75c7\uff1a\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u306e\u8ffd\u52a0\u5831\u544a <\/div>\n          <div class=\"blog-card-excerpt\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f\u300112q24.31-q24.33\u6b20\u5931\u306b\u3088\u308b\u7a00\u306a\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u306b\u3064\u3044\u3066\u89e3\u8aac\u3002\u3053\u306e\u7a00\u306a\u907a\u4f1d\u5b50\u7570\u5e38\u306e\u8a73\u7d30\u306a\u5206\u6790...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%8E%9F%E5%9B%A0%E9%81%BA%E4%BC%9D%E5%AD%90CNOT2%E3%81%A8CCR4-NOT%E8%A4%87%E5%90%88%E4%BD%93\"><\/span><strong>4. \u539f\u56e0\u907a\u4f1d\u5b50CNOT2\u3068CCR4-NOT\u8907\u5408\u4f53<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>CNOT2\u306f\u300cCCR4-NOT\u8907\u5408\u4f53\u300d\u3068\u547c\u3070\u308c\u308b\u3001\u7d30\u80de\u306e\u4e2d\u3067\u6570\u591a\u304f\u306e\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u65b9\u3092\u8abf\u6574\u3059\u308b\u4ed5\u7d44\u307f\u306e\u571f\u53f0\u3068\u306a\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002<\/strong>\u3053\u306e\u8907\u5408\u4f53\u306f\u30e1\u30c3\u30bb\u30f3\u30b8\u30e3\u30fcRNA\u306e\u5206\u89e3\u3084\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u8abf\u7bc0\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u54c1\u8cea\u7ba1\u7406\u306a\u3069\u3001\u7d30\u80de\u304c\u6b63\u5e38\u306b\u50cd\u304f\u305f\u3081\u306e\u57fa\u76e4\u7684\u306a\u5f79\u5272\u3092\u5e45\u5e83\u304f\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>CNOT2\u306f\u4e21\u89aa\u304b\u30891\u30b3\u30d4\u30fc\u305a\u3064\u53d7\u3051\u7d99\u3050\u907a\u4f1d\u5b50\u3067\u3059\u304c\u3001\u7247\u65b9\u306e\u30b3\u30d4\u30fc\u304c\u5931\u308f\u308c\u308b\u3001\u3042\u308b\u3044\u306f\u50cd\u304d\u3092\u5931\u3046\u5909\u5316\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u3060\u3051\u3067\u3001\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u304c\u53ca\u3076\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002CCR4-NOT\u8907\u5408\u4f53\u306e\u69cb\u9020\u304c\u308f\u305a\u304b\u306b\u4e0d\u5b89\u5b9a\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u795e\u7d4c\u7d30\u80de\u306e\u767a\u9054\u306b\u95a2\u308f\u308b\u591a\u6570\u306e\u907a\u4f1d\u5b50\u306e\u767a\u73fe\u30d0\u30e9\u30f3\u30b9\u304c\u5d29\u308c\u3001\u767a\u9054\u9045\u5ef6\u3084\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u306b\u3064\u306a\u304c\u308b\u3068\u3044\u3046\u4ed5\u7d44\u307f\u3067\u3059\u3002<strong>\u3053\u306e\u75c5\u6c17\u306f\u65e5\u672c\u4eba\u7814\u7a76\u8005\u3092\u542b\u3080\u56fd\u969b\u7684\u306a\u7814\u7a76\u30c1\u30fc\u30e0\u306b\u3088\u3063\u3066\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7279\u5b9a\u3055\u308c\u305f\u3001\u6bd4\u8f03\u7684\u65b0\u3057\u3044\u77e5\u898b\u306b\u3082\u3068\u3065\u304f\u75be\u60a3\u6982\u5ff5<\/strong>\u3068\u8a00\u3048\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5b66\u7684\u306b\u306f\u300cCNOT2\u95a2\u9023\u77e5\u7684\u767a\u9054\u75c7\uff08IDNADFS\uff09\u300d\u3068\u3044\u3046\u540d\u79f0\u3067\u3082\u547c\u3070\u308c\u3001\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306b\u3088\u308b\u3082\u306e\u3068\u3001CNOT2\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306e\u70b9\u5909\u7570\u306b\u3088\u308b\u3082\u306e\u304c\u3001\u540c\u3058\u75be\u60a3\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3068\u3057\u3066\u6271\u308f\u308c\u3066\u3044\u307e\u3059\u3002\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\u898b\u3064\u304b\u308b\u300c\u6b20\u5931\u300d\u3068\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u898b\u3064\u304b\u308b\u300c\u5909\u7570\u300d\u304c\u3001\u5b9f\u306f\u540c\u3058\u75c5\u6c17\u306e\u7570\u306a\u308b\u73fe\u308c\u65b9\u3060\u3063\u305f\u3068\u3044\u3046\u767a\u898b\u3002\u3053\u306e\u7d4c\u7def\u3092\u77e5\u308b\u3068\u3001\u907a\u4f1d\u5b50\u533b\u5b66\u306e\u5965\u6df1\u3055\u3092\u611f\u3058\u305a\u306b\u306f\u3044\u3089\u308c\u307e\u305b\u3093\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"426\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/31392261_s.jpg\" alt=\"\u8a00\u8449\u3067\u3064\u306a\u304c\u308c\u306a\u304f\u3066\u3082\" class=\"wp-image-88317\"\/><\/figure><\/div>\n\n\n<p>\u9f3b\u58f0\u3084\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u304c\u3042\u308b\u5b50\u3069\u3082\u3068\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u3067\u306f\u3001\u8a00\u8449\u4ee5\u5916\u306e\u65b9\u6cd5\u3067\u6c17\u6301\u3061\u3092\u4f1d\u3048\u5408\u3046\u5de5\u592b\u304c\u52a9\u3051\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u6b21\u306e\u7ae0\u3067\u306f\u3001\u3053\u306e\u5909\u5316\u304c\u3069\u306e\u3088\u3046\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u306e\u304b\u3092\u898b\u3066\u3044\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=\"5_%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%EF%BC%88%E5%A4%9A%E3%81%8F%E3%81%AF%E6%96%B0%E7%94%9F%EF%BC%88%E3%83%87%E3%83%8E%E3%83%9C%EF%BC%89%E3%81%AE%E5%A4%89%E5%8C%96%EF%BC%89\"><\/span><strong>5. \u907a\u4f1d\u5f62\u5f0f\uff08\u591a\u304f\u306f\u65b0\u751f\uff08\u30c7\u30ce\u30dc\uff09\u306e\u5909\u5316\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u3053\u308c\u307e\u3067\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306e\u591a\u304f\u306f\u3001\u4e21\u89aa\u304b\u3089\u907a\u4f1d\u3057\u305f\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u65b0\u751f\uff08\u30c7\u30ce\u30dc\uff09\u306e\u5909\u5316\u3068\u3057\u3066\u5076\u767a\u7684\u306b\u751f\u3058\u305f\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/strong>\u30c7\u30ce\u30dc\u3068\u306f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u521d\u671f\u6bb5\u968e\u3067\u3001\u65b0\u305f\u306b\u67d3\u8272\u4f53\u3084\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u751f\u3058\u308b\u3053\u3068\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306e\u98df\u4e8b\u3084\u751f\u6d3b\u7fd2\u6163\u3001\u3054\u4e21\u89aa\u306e\u884c\u52d5\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u81ea\u8eab\u3092\u8cac\u3081\u308b\u5fc5\u8981\u306f\u306a\u3044\u3068\u3001\u79c1\u306f\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u5834\u3067\u304a\u4f1d\u3048\u3059\u308b\u3088\u3046\u306b\u3057\u3066\u3044\u307e\u3059\u3002\u3068\u306f\u3044\u3048\u3001\u5831\u544a\u4f8b\u306e\u6570\u304c\u307e\u3060\u5c11\u306a\u3044\u305f\u3081\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u518d\u767a\u7387\u306b\u3064\u3044\u3066\u78ba\u5b9a\u7684\u306a\u6570\u5024\u306f\u793a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u6b21\u306e\u304a\u5b50\u3055\u307e\u3092\u8003\u3048\u308b\u969b\u306f\u3001\u3054\u4e21\u89aa\u306e\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3092\u884c\u3044\u3001\u540c\u3058\u5909\u5316\u3092\u6301\u3063\u3066\u3044\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u305f\u3046\u3048\u3067\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u500b\u5225\u306e\u72b6\u6cc1\u3092\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>6. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4e00\u822c\u7684\u306a\u57fa\u672cNIPT\u306f21\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u304c\u5bfe\u8c61\u3067\u300112q15-q21.1\u306e\u3088\u3046\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u3092\u5bfe\u8c61\u306b\u542b\u3080\u62e1\u5f35NIPT\u3067\u521d\u3081\u3066\u5019\u88dc\u306b\u3042\u304c\u308a\u307e\u3059\u3002<\/strong>\u57fa\u672c\u691c\u67fb\u3060\u3051\u3092\u53d7\u3051\u305f\u5834\u5408\u3001\u3053\u306e\u75c5\u6c17\u304c\u7d50\u679c\u306b\u53cd\u6620\u3055\u308c\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u62e1\u5f35NIPT\u3067\u306f\u3001\u6bcd\u4f53\u8840\u4e2d\u306b\u542b\u307e\u308c\u308b\u80ce\u5150\u7531\u6765\u306e\u30bb\u30eb\u30d5\u30ea\u30fcDNA\uff08cfDNA\uff09\u3092\u89e3\u6790\u3057\u3001\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3084\u91cd\u8907\u306e\u53ef\u80fd\u6027\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3057\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u306e\u75c5\u6c17\u306e\u81e8\u754c\u9818\u57df\u306f742\u30ad\u30ed\u5869\u57fa\u7a0b\u5ea6\u3068\u975e\u5e38\u306b\u5c0f\u3055\u304f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306e\u691c\u51fa\u7cbe\u5ea6\u306f\u6b20\u5931\u306e\u5927\u304d\u3055\u3084\u691c\u67fb\u30a2\u30eb\u30b4\u30ea\u30ba\u30e0\u306b\u3088\u3063\u3066\u5de6\u53f3\u3055\u308c\u308b\u305f\u3081\u3001\u62e1\u5f35NIPT\u3067\u967d\u6027\u304c\u51fa\u3066\u3082\u3001\u307e\u305f\u9006\u306b\u9670\u6027\u3067\u3042\u3063\u3066\u3082\u3001\u305d\u308c\u3060\u3051\u3067\u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u516c\u76ca\u793e\u56e3\u6cd5\u4eba\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u306e<a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u306b\u95a2\u3059\u308b\u6307\u91dd<\/a>\u3067\u3082\u3001NIPT\u306e\u7d50\u679c\u306f\u78ba\u5b9a\u8a3a\u65ad\u3067\u306f\u306a\u304f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u306e\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u539a\u751f\u52b4\u50cd\u7701\u306e<a href=\"https:\/\/www.mhlw.go.jp\/content\/000783387.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u7b49\u306e\u51fa\u751f\u524d\u691c\u67fb\u306b\u95a2\u3059\u308b\u5c02\u9580\u59d4\u54e1\u4f1a\u5831\u544a\u66f8<\/a>\u306b\u304a\u3044\u3066\u3082\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u542b\u3080\u62e1\u5f35\u691c\u67fb\u306f\u5206\u6790\u7684\u30fb\u81e8\u5e8a\u7684\u306a\u59a5\u5f53\u6027\u306b\u9650\u754c\u304c\u3042\u308b\u3053\u3068\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u30fb\u91cd\u8907143\u7a2e\u3092\u5bfe\u8c61\u3068\u3059\u308b\u62e1\u5f35\u691c\u67fb\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u305712q15-q21.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306b\u5831\u544a\u4f8b\u304c\u5341\u6570\u4f8b\u7a0b\u5ea6\u3068\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u306f\u3001\u691c\u67fb\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u500b\u5225\u306b\u5bfe\u8c61\u3078\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u53d7\u691c\u524d\u306b\u30d7\u30e9\u30f3\u306e\u691c\u67fb\u7bc4\u56f2\u8868\u3067\u78ba\u8a8d\u3059\u308b\u304b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u304a\u5c0b\u306d\u304f\u3060\u3055\u3044\u3002\u62e1\u5f35NIPT\u3067\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u3001\u307e\u305a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u7d50\u679c\u306e\u610f\u5473\u3092\u78ba\u8a8d\u3057\u305f\u3046\u3048\u3067\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniotic-fluid-test-about\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u3067\u78ba\u5b9a\u3055\u305b\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002NIPT\u5168\u822c\u3067\u4f55\u304c\u308f\u304b\u308a\u3001\u4f55\u304c\u308f\u304b\u3089\u306a\u3044\u304b\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-chromosome-abnormality\/\">NIPT\u3067\u308f\u304b\u308b\u67d3\u8272\u4f53\u7570\u5e38\u306e\u7a2e\u985e\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u5168\u822c\u304c\u5fc3\u914d\u306a\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/\">\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u7570\u5e38\u304c\u3082\u305f\u3089\u3059\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\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=\"7_%E8%A8%BA%E6%96%AD%E3%81%8C%E7%A2%BA%E5%AE%9A%E3%81%99%E3%82%8B%E3%81%BE%E3%81%A7%E3%81%AE%E6%B5%81%E3%82%8C\"><\/span><strong>7. \u8a3a\u65ad\u304c\u78ba\u5b9a\u3059\u308b\u307e\u3067\u306e\u6d41\u308c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u78ba\u5b9a\u8a3a\u65ad\u306b\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\uff08CMA\uff09\u306b\u3088\u308b\u6b20\u5931\u7bc4\u56f2\u306e\u7279\u5b9a\u3068\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%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%EF%BC%88CMA%EF%BC%89%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB\"><\/span>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09\u3068\u907a\u4f1d\u5b50\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5f93\u6765\u306e\u9855\u5fae\u93e1\u306b\u3088\u308b\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u5206\u67d3\u6cd5\uff09\u3067\u306f\u898b\u3064\u3051\u3089\u308c\u306a\u3044\u3001\u6570\u767e\u30ad\u30ed\u5869\u57fa\u304b\u3089\u6570\u30e1\u30ac\u5869\u57fa\u5358\u4f4d\u306e\u5fae\u7d30\u306a\u6b20\u5931\u3092\u691c\u51fa\u3067\u304d\u308b\u691c\u67fb\u3067\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>\u3001\u51fa\u751f\u5f8c\u3067\u3042\u308c\u3070\u8840\u6db2\u691c\u67fb\u3067\u884c\u308f\u308c\u307e\u3059\u3002CMA\u3067\u6b20\u5931\u304c\u78ba\u8a8d\u3067\u304d\u306a\u3044\u5834\u5408\u3067\u3082\u3001CNOT2\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u306e\u70b9\u5909\u7570\u304c\u539f\u56e0\u306b\u306a\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u3042\u308b\u305f\u3081\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08WES\uff09\u306a\u3069\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u8ffd\u52a0\u3067\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%A1%E8%A6%AA%E3%81%AE%E6%A4%9C%E6%9F%BB%E3%81%A8%E8%87%A8%E5%BA%8A%E7%9A%84%E3%81%AA%E8%A9%95%E4%BE%A1\"><\/span>\u4e21\u89aa\u306e\u691c\u67fb\u3068\u81e8\u5e8a\u7684\u306a\u8a55\u4fa1<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u304a\u5b50\u3055\u307e\u306b\u6b20\u5931\u3084\u5909\u7570\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u3001\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\u3084\u907a\u4f1d\u5b50\u691c\u67fb\u3092\u884c\u3044\u3001\u540c\u3058\u5909\u5316\u304c\u306a\u3044\u304b\u3092\u8abf\u3079\u307e\u3059\u3002\u3042\u308f\u305b\u3066\u3001\u6210\u9577\u30fb\u767a\u9054\u8a55\u4fa1\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u691c\u67fb\u3001\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3001\u810a\u690e\u306eX\u7dda\u691c\u67fb\u306a\u3069\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u8907\u6570\u79d1\u306e\u8a55\u4fa1\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u5168\u4f53\u50cf\u3092\u628a\u63e1\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E6%B2%BB%E7%99%82%E3%83%BB%E7%99%82%E8%82%B2%E7%9A%84%E3%81%AA%E6%94%AF%E6%8F%B4\"><\/span><strong>8. \u6cbb\u7642\u30fb\u7642\u80b2\u7684\u306a\u652f\u63f4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u6b20\u5931\u3084\u907a\u4f1d\u5b50\u5909\u7570\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u75c7\u72b6\u3054\u3068\u306e\u5c02\u9580\u7684\u306a\u30b1\u30a2\u3068\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u3055\u307e\u3089\u3057\u3044\u6210\u9577\u3092\u652f\u3048\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong>\uff1a \u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u3092\u7d44\u307f\u5408\u308f\u305b\u3001\u904b\u52d5\u767a\u9054\u3068\u8a00\u8a9e\u767a\u9054\u3092\u30b5\u30dd\u30fc\u30c8\u3057\u307e\u3059\u3002\u9f3b\u58f0\u3084\u767a\u97f3\u306e\u8ab2\u984c\u306b\u306f\u8a00\u8a9e\u8074\u899a\u58eb\u306b\u3088\u308b\u5c02\u9580\u7684\u306a\u8a13\u7df4\u304c\u6709\u52b9\u306a\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7532\u72b6\u817a\u6a5f\u80fd\u306e\u30d5\u30a9\u30ed\u30fc<\/strong>\uff1a \u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3092\u4f34\u3046\u5834\u5408\u3001\u5b9a\u671f\u7684\u306a\u8840\u6db2\u691c\u67fb\u3067\u30db\u30eb\u30e2\u30f3\u5024\u3092\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u30fb\u884c\u52d5\u9762\u306e\u7ba1\u7406<\/strong>\uff1a \u3066\u3093\u304b\u3093\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u5c0f\u5150\u795e\u7d4c\u79d1\u3067\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u6cbb\u7642\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u306e\u50be\u5411\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306f\u884c\u52d5\u7642\u6cd5\u3084\u7642\u80b2\u30d7\u30ed\u30b0\u30e9\u30e0\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u30fb\u5fc3\u81d3\u306e\u7ba1\u7406<\/strong>\uff1a \u810a\u67f1\u306e\u5074\u5f2f\u30fb\u5f8c\u5f2f\u304c\u3042\u308b\u5834\u5408\u306f\u6574\u5f62\u5916\u79d1\u3067\u306e\u7d4c\u904e\u89b3\u5bdf\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u3042\u308c\u3070\u5c0f\u5150\u5faa\u74b0\u5668\u79d1\u3067\u306e\u30d5\u30a9\u30ed\u30fc\u3084\u624b\u8853\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<p>\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3082\u91cd\u3055\u3082\u4e00\u4eba\u3072\u3068\u308a\u9055\u3046\u305f\u3081\u3001\u5c0f\u5150\u79d1\u30fb\u907a\u4f1d\u79d1\u30fb\u5185\u5206\u6ccc\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u30fb\u5c0f\u5150\u5faa\u74b0\u5668\u79d1\u304c\u9023\u643a\u3057\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u307e\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u8a08\u753b\u3092\u5c11\u3057\u305a\u3064\u7d44\u307f\u7acb\u3066\u3066\u3044\u304f\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002\u7a93\u53e3\u306f\u307e\u305a\u907a\u4f1d\u79d1\u30fb\u5c0f\u5150\u79d1\u3002\u305d\u3053\u304b\u3089\u5fc5\u8981\u306a\u5c02\u9580\u79d1\u3078\u3068\u3064\u306a\u3044\u3067\u3044\u304f\u5f62\u304c\u4e00\u822c\u7684\u3067\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=\"9_%E4%BA%88%E5%BE%8C%E3%81%A8%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span><strong>9. \u4e88\u5f8c\u3068\u898b\u901a\u3057<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3084\u767a\u9054\u306e\u9045\u308c\u306f\u591a\u304f\u306e\u75c7\u4f8b\u306b\u5171\u901a\u3057\u307e\u3059\u304c\u3001\u7a0b\u5ea6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u3001\u9069\u5207\u306a\u7642\u80b2\u3092\u7d9a\u3051\u308b\u3053\u3068\u3067\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u5831\u544a\u4f8b\u304c\u5c11\u306a\u3044\u75c5\u6c17\u306e\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u7d4c\u904e\u3092\u793a\u3059\u5927\u898f\u6a21\u306a\u30c7\u30fc\u30bf\u306f\u307e\u3060\u5341\u5206\u306b\u305d\u308d\u3063\u3066\u3044\u307e\u305b\u3093\u3002\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3084\u5fc3\u75be\u60a3\u306a\u3069\u51fa\u751f\u5f8c\u65e9\u671f\u306b\u898b\u3064\u304b\u308a\u3084\u3059\u3044\u533b\u7642\u7684\u306a\u8ab2\u984c\u306b\u5bfe\u5fdc\u3057\u305f\u3042\u3068\u306f\u3001\u767a\u9054\u652f\u63f4\u3068\u5b9a\u671f\u7684\u306a\u5c02\u9580\u79d1\u3067\u306e\u30d5\u30a9\u30ed\u30fc\u3092\u7d9a\u3051\u306a\u304c\u3089\u3001\u5c11\u3057\u305a\u3064\u6210\u9577\u3092\u898b\u5b88\u3063\u3066\u3044\u304f\u7d4c\u904e\u3092\u305f\u3069\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u65ad\u5b9a\u7684\u306a\u898b\u901a\u3057\u3092\u793a\u3059\u3053\u3068\u306f\u96e3\u3057\u3044\u72b6\u6cc1\u3067\u3059\u3002\u9375\u3068\u306a\u308b\u306e\u306f\u3001\u5c0f\u5150\u79d1\u30fb\u907a\u4f1d\u79d1\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u5b9a\u671f\u7684\u306a\u7d4c\u904e\u89b3\u5bdf\u3068\u3001\u65e5\u3005\u306e\u7642\u80b2\u306e\u7a4d\u307f\u91cd\u306d\u3002\u79c1\u306f\u8a3a\u7642\u306e\u4e2d\u3067\u3001\u305d\u3046\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"10_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E6%94%AF%E6%8F%B4%E3%81%A8%E3%80%81%E6%AC%A1%E3%81%AE%E3%81%8A%E5%AD%90%E3%81%95%E3%81%BE%E3%82%92%E8%80%83%E3%81%88%E3%82%8B%E3%81%A8%E3%81%8D%E3%81%AB\"><\/span><strong>10. \u3054\u5bb6\u65cf\u3078\u306e\u652f\u63f4\u3068\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3092\u8003\u3048\u308b\u3068\u304d\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u4e16\u754c\u7684\u306b\u5831\u544a\u4f8b\u304c\u5c11\u306a\u3044\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u4e3b\u6cbb\u533b\u30fb\u907a\u4f1d\u5c02\u9580\u533b\u3068\u60c5\u5831\u3092\u5171\u6709\u3057\u3001\u7591\u554f\u3092\u4e00\u3064\u305a\u3064\u78ba\u8a8d\u3057\u3066\u3044\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u307e\u308c\u306a\u75c5\u6c17\u3068\u8a3a\u65ad\u3055\u308c\u308b\u3068\u3001\u540c\u3058\u7d4c\u9a13\u3092\u3057\u305f\u5bb6\u65cf\u304c\u8eab\u8fd1\u306b\u898b\u3064\u304b\u3089\u305a\u3001\u5b64\u72ec\u3092\u611f\u3058\u3084\u3059\u3044\u3082\u306e\u3067\u3059\u3002\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u30fb\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3088\u308b\u30b5\u30dd\u30fc\u30c8\u306b\u52a0\u3048\u3001\u7642\u80b2\u306e\u73fe\u5834\u3067\u3064\u306a\u304c\u308b\u4fdd\u8b77\u8005\u3069\u3046\u3057\u306e\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u304c\u652f\u3048\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u533b\u7642\u7684\u306a\u7ba1\u7406\u306f\u533b\u5e2b\u3084\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u306b\u4efb\u305b\u3001\u3054\u5bb6\u65cf\u306e\u5f79\u5272\u306f\u76ee\u306e\u524d\u306e\u304a\u5b50\u3055\u307e\u306e\u5c0f\u3055\u306a\u6210\u9577\u3092\u4e00\u7dd2\u306b\u559c\u3076\u3053\u3068\u3060\u3068\u8003\u3048\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3092\u4f34\u3046\u75be\u60a3\u5168\u822c\u306b\u3064\u3044\u3066\u6c17\u306b\u306a\u308b\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-statistics-probability\/\">NIPT\u3068\u77e5\u7684\u969c\u5bb3\u306e\u78ba\u7387\u30fb\u7684\u4e2d\u7387\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3001\u767a\u9054\u969c\u5bb3\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u75c7<\/a>\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3068\u306e\u95a2\u9023\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-autism-developmental-disorders-detection\/\">NIPT\u3067\u767a\u9054\u969c\u5bb3\u30fb\u81ea\u9589\u75c7\u306f\u308f\u304b\u308b\u304b\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3001\u7642\u80b2\u306e\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-early-intervention-brain-science-hope\/\">\u65e9\u671f\u7642\u80b2\u3068\u8133\u79d1\u5b66\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002\u67d3\u8272\u4f53\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u305d\u306e\u3082\u306e\u306b\u3064\u3044\u3066\u57fa\u790e\u304b\u3089\u77e5\u308a\u305f\u3044\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u67d3\u8272\u4f53\u306e\u90e8\u5206\u6b20\u5931\u3068\u306f\u4f55\u304b\u3092\u89e3\u8aac\u3057\u305f\u8a18\u4e8b<\/a>\u304c\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u5411\u3051\u3066NIPT\u3092\u691c\u8a0e\u3059\u308b\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u3069\u3053\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3067\u30d7\u30e9\u30f3\u306e\u5185\u5bb9\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u3054\u81ea\u8eab\u306b\u5408\u3046\u30d7\u30e9\u30f3\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306f\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\">\u30d7\u30e9\u30f3\u8a3a\u65ad<\/a><\/strong>\u3092\u8a66\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--1\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/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><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"12q15-q211%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%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>12q15-q21.1\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>12\u756a\u67d3\u8272\u4f53\u306e\u9577\u815515\u756a\u304b\u3089q21.1\u3068\u3044\u3046\u9818\u57df\u304c\u751f\u307e\u308c\u3064\u304d\u5c0f\u3055\u304f\u6b20\u3051\u3066\u3044\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u9f3b\u306b\u304b\u304b\u3063\u305f\u8a71\u3057\u65b9\u3001\u8efd\u5ea6\u306e\u9854\u3064\u304d\u306e\u7279\u5fb4\u3001\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u306a\u3069\u304c\u4e3b\u306a\u75c7\u72b6\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%E3%81%AE%E9%A0%BB%E5%BA%A6%E3%81%A7%E8%B5%B7%E3%81%93%E3%82%8B%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u306e\u304f\u3089\u3044\u306e\u983b\u5ea6\u3067\u8d77\u3053\u308b\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e16\u754c\u7684\u306b\u3082\u5831\u544a\u4f8b\u304c\u5341\u6570\u4f8b\u306b\u3068\u3069\u307e\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u30022023\u5e74\u306b\u767a\u8868\u3055\u308c\u305f\u7814\u7a76\u3067\u306f\u3001\u67d3\u8272\u4f53\u6b20\u5931\u306b\u3088\u308b\u75c7\u4f8b\u3068\u539f\u56e0\u907a\u4f1d\u5b50CNOT2\u306e\u70b9\u5909\u7570\u306b\u3088\u308b\u75c7\u4f8b\u3092\u3042\u308f\u305b\u306615\u4f8b\u304c\u89e3\u6790\u3055\u308c\u3066\u304a\u308a\u3001\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u307e\u3060\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"12q14%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%E3%81%A9%E3%81%86%E9%81%95%E3%81%84%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>12q14\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\u3069\u3046\u9055\u3044\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u540d\u524d\u306f\u4f3c\u3066\u3044\u307e\u3059\u304c\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3082\u4e3b\u306a\u75c7\u72b6\u3082\u7570\u306a\u308b\u5225\u306e\u75be\u60a3\u3067\u3059\u300212q14<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306fHMGA2\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001\u51fa\u751f\u524d\u5f8c\u304b\u3089\u306e\u6210\u9577\u969c\u5bb3\u30fb\u4f4e\u8eab\u9577\u304c\u4e2d\u5fc3\u7684\u306a\u75c7\u72b6\u3067\u3059\u3002\u4e00\u65b9\u300112q15-q21.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306fCNOT2\u907a\u4f1d\u5b50\u304c\u539f\u56e0\u3067\u3001\u767a\u9054\u9045\u5ef6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u9f3b\u58f0\u30fb\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u304c\u524d\u9762\u306b\u51fa\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u308c\u307e\u3067\u306e\u5831\u544a\u4f8b\u306e\u591a\u304f\u306f\u65b0\u751f\uff08\u30c7\u30ce\u30dc\uff09\u306e\u5909\u5316\u3068\u3055\u308c\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u3082\u306e\u3067\u306f\u306a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u5831\u544a\u6570\u304c\u5c11\u306a\u304f\u518d\u767a\u7387\u306f\u78ba\u5b9a\u3057\u3066\u3044\u306a\u3044\u305f\u3081\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3092\u8003\u3048\u308b\u969b\u306f\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u306e\u78ba\u8a8d\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%93%E3%81%AE%E7%97%85%E6%B0%97%E3%81%AFNIPT%E3%81%A7%E5%88%86%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3053\u306e\u75c5\u6c17\u306fNIPT\u3067\u5206\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u5bfe\u8c61\u306b\u542b\u3080\u62e1\u5f35NIPT\u3067\u5019\u88dc\u306b\u3042\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u57fa\u672cNIPT\uff0821\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\uff09\u306e\u5bfe\u8c61\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u307e\u305f\u3001\u5831\u544a\u4f8b\u304c\u975e\u5e38\u306b\u5c11\u306a\u3044\u75be\u60a3\u306e\u305f\u3081\u3001\u691c\u67fb\u30d7\u30e9\u30f3\u306b\u3088\u3063\u3066\u500b\u5225\u306b\u5bfe\u8c61\u3078\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u304c\u7570\u306a\u308a\u307e\u3059\u3002\u62e1\u5f35NIPT\u3067\u967d\u6027\u6240\u898b\u304c\u51fa\u3066\u3082\u78ba\u5b9a\u8a3a\u65ad\u3067\u306f\u306a\u304f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\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\u8a8d\u3059\u308b\u6d41\u308c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b20\u5931\u3084\u907a\u4f1d\u5b50\u5909\u7570\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u3002\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u306b\u3088\u308b\u767a\u9054\u652f\u63f4\u3001\u7532\u72b6\u817a\u30db\u30eb\u30e2\u30f3\u306e\u88dc\u5145\u3001\u3066\u3093\u304b\u3093\u3078\u306e\u85ac\u7269\u6cbb\u7642\u3001\u810a\u67f1\u3084\u5fc3\u81d3\u306e\u72b6\u614b\u306b\u5fdc\u3058\u305f\u5c02\u9580\u79d1\u3067\u306e\u30d5\u30a9\u30ed\u30fc\u306a\u3069\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \/ \u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo Director\u3002\u6176\u61c9\u7fa9\u587e\u5927\u5b66\u533b\u5b66\u90e8\u5352\u696d\u3002\u65e5\u672c\u3068\u30a2\u30e1\u30ea\u30ab\u306e\u533b\u5e2b\u56fd\u5bb6\u8a66\u9a13\u306b\u5408\u683c\u3057\u3001\u533b\u5b66\u535a\u58eb\u3002\u56fd\u5185\u3067\u3082\u6570\u5c11\u306a\u3044\u30e9\u30dc\u30c7\u30a3\u30ec\u30af\u30bf\u30fc\u8cc7\u683c\u3092\u4fdd\u6709\u3057\u3066\u3044\u307e\u3059\u3002\u672c\u8a18\u4e8b\u306f\u533b\u7642\u5e83\u544a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u914d\u616e\u3057\u3001\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u3001\u533b\u5b66\u8a8c\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u7814\u7a76\u3001\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u30fb\u539a\u751f\u52b4\u50cd\u7701\u306a\u3069\u306e\u516c\u7684\u6a5f\u95a2\u30fb\u5b66\u4f1a\u60c5\u5831\u3092\u53c2\u7167\u3057\u3066\u4f5c\u6210\u3057\u3066\u3044\u307e\u3059\u3002\u5831\u544a\u6570\u304c\u9650\u3089\u308c\u308b\u5e0c\u5c11\u75be\u60a3\u306e\u305f\u3081\u3001\u8a18\u8f09\u306e\u983b\u5ea6\u30fb\u6570\u5024\u306f\u4eca\u5f8c\u306e\u75c7\u4f8b\u84c4\u7a4d\u306b\u3088\u308a\u5909\u308f\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u6700\u7d42\u5224\u65ad\u306f\u62c5\u5f53\u533b\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u598a\u5a20\u4e2d\u306e\u30ea\u30b9\u30af\u7ba1\u7406\u306b<br \/>\nNIPT\u3067\u5b89\u5fc3\u3092<\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p>&nbsp;<\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%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:\/\/pubmed.ncbi.nlm.nih.gov\/28159701\/\" target=\"_blank\" rel=\"noopener\">Alesi V, Loddo S, Grispo M, Riccio S, Montella AC, Dallapiccola B, Ulgheri L, Novelli A. (2017). Reassessment of the 12q15 deletion syndrome critical region. <em>European Journal of Medical Genetics<\/em>, 60(4), 220-223.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30768759\/\" target=\"_blank\" rel=\"noopener\">Uehara T, Takenouchi T, Yamaguchi Y, Daimon Y, Suzuki H, Sakaguchi Y, Kosaki K. (2019). CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome. <em>American Journal of Medical Genetics Part A<\/em>, 179(4), 659-662.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC9939052\/\" target=\"_blank\" rel=\"noopener\">Niceta M, Pizzi S, Inzana F, et al. (2023). Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotype. <em>Clinical Genetics<\/em>, 103(2), 156-166.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21141\/12q15q211-microdeletion-syndrome\" target=\"_blank\" rel=\"noopener\">Genetic and Rare Diseases Information Center (GARD), National Institutes of Health. 12q15q21.1 microdeletion syndrome.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/1383455\" target=\"_blank\" rel=\"noopener\">MedGen, National Center for Biotechnology Information (NCBI). 12q15q21.1 microdeletion syndrome (Concept ID: C4518344).<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">\u516c\u76ca\u793e\u56e3\u6cd5\u4eba\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a. NIPT\u306b\u95a2\u3059\u308b\u6307\u91dd.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.mhlw.go.jp\/content\/000783387.pdf\" target=\"_blank\" rel=\"noopener\">\u539a\u751f\u52b4\u50cd\u7701. 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