{"id":83623,"date":"2024-11-15T16:03:47","date_gmt":"2024-11-15T07:03:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=83623"},"modified":"2026-07-18T05:19:37","modified_gmt":"2026-07-17T20:19:37","slug":"19q13-11-microdeletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-microdeletion-syndrome\/","title":{"rendered":"19q13.11 \u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4"},"content":{"rendered":"\n<p><strong>\u62e1\u5f35NIPT\u3084\u51fa\u751f\u5f8c\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3067\u300c19q13.11<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\u4e0d\u5b89\u3092\u611f\u3058\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\u306f19\u756a\u67d3\u8272\u4f53\u306e\u9577\u815513.11\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\u975e\u5e38\u306b\u5c11\u306a\u3044\u75be\u60a3\u7fa4\u3067\u3042\u308a\u3001\u6210\u9577\u306e\u9045\u308c\u3084\u767a\u9054\u306e\u7279\u6027\u3001\u76ae\u819a\u3084\u722a\u306e\u7570\u5e38\u3001\u7537\u5150\u306e\u5c3f\u9053\u4e0b\u88c2\u306a\u3069\u304c\u7279\u5fb4\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<strong>\u6b20\u5931\u306e\u7bc4\u56f2\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308b<\/strong>\u70b9\u304c\u3001\u3053\u306e\u75c5\u6c17\u3092\u7406\u89e3\u3059\u308b\u3046\u3048\u3067\u6b20\u304b\u305b\u306a\u3044\u8996\u70b9\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u300119q13.11<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\u4f3c\u305f\u75c5\u6c17\u3067\u3042\u308bEEC\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\u30c7\u30fc\u30bf\u3001Orphanet\uff08\u6b27\u5dde\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\uff09\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>19q13.11<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\u6b20\u5931\u306e\u7bc4\u56f2\u3068\u767a\u898b\u306e\u7d4c\u7def\uff09<\/li>\n<li>\u5831\u544a\u3055\u308c\u305f15\u75c7\u4f8b\u306e\u30c7\u30fc\u30bf\u306b\u3082\u3068\u3065\u304f\u4e3b\u306a\u75c7\u72b6\u306e\u51fa\u73fe\u983b\u5ea6<\/li>\n<li>\u4f3c\u305f\u75c7\u72b6\u3092\u793a\u3059EEC\u75c7\u5019\u7fa4\uff08\u88c2\u624b\u88c2\u8db3\u5916\u80da\u8449\u7570\u5f62\u6210\u88c2\u578b\u75c7\u5019\u7fa4\uff09\u3068\u306e\u9055\u3044\u3068\u8aa4\u8a3a\u306e\u30ea\u30b9\u30af<\/li>\n<li>\u539f\u56e0\u3068\u3057\u3066\u5019\u88dc\u306b\u3042\u304c\u308b\u907a\u4f1d\u5b50\uff08ZNF\u907a\u4f1d\u5b50\u7fa4\u30fbWTIP\u30fbUBA2\u306a\u3069\uff09\u306e\u50cd\u304d<\/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\/19q13-11-microdeletion-syndrome\/#1_19q1311%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%8819%E7%95%AA%E6%9F%93%E8%89%B2%E4%BD%93%E9%95%B7%E8%85%95%E3%81%AE%E5%BE%AE%E5%B0%8F%E3%81%AA%E6%AC%A0%E5%A4%B1%EF%BC%89\" >1. 19q13.11\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff0819\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u5fae\u5c0f\u306a\u6b20\u5931\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\/19q13-11-microdeletion-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%8815%E7%97%87%E4%BE%8B%E3%81%AE%E7%B3%BB%E7%B5%B1%E7%9A%84%E3%83%AC%E3%83%93%E3%83%A5%E3%83%BC%E3%81%AB%E3%82%88%E3%82%8B%E3%83%87%E3%83%BC%E3%82%BF%EF%BC%89\" >2. \u4e3b\u306a\u75c7\u72b6\uff0815\u75c7\u4f8b\u306e\u7cfb\u7d71\u7684\u30ec\u30d3\u30e5\u30fc\u306b\u3088\u308b\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\/19q13-11-microdeletion-syndrome\/#%E7%99%BA%E8%82%B2%E3%83%BB%E7%99%BA%E9%81%94%E3%81%AE%E7%89%B9%E5%BE%B4\" >\u767a\u80b2\u30fb\u767a\u9054\u306e\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\/19q13-11-microdeletion-syndrome\/#%E5%A4%96%E8%83%9A%E8%91%89%E7%95%B0%E5%BD%A2%E6%88%90%E3%81%AB%E3%82%88%E3%82%8B%E7%9A%AE%E8%86%9A%E3%83%BB%E6%AF%9B%E9%AB%AA%E3%81%AE%E7%97%87%E7%8A%B6\" >\u5916\u80da\u8449\u7570\u5f62\u6210\u306b\u3088\u308b\u76ae\u819a\u30fb\u6bdb\u9aea\u306e\u75c7\u72b6<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-microdeletion-syndrome\/#%E5%B0%BF%E9%81%93%E4%B8%8B%E8%A3%82%E3%83%BB%E6%89%8B%E8%B6%B3%E3%81%AE%E7%95%B0%E5%B8%B8\" >\u5c3f\u9053\u4e0b\u88c2\u30fb\u624b\u8db3\u306e\u7570\u5e38<\/a><\/li><\/ul><\/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\/19q13-11-microdeletion-syndrome\/#3_EEC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E9%96%93%E9%81%95%E3%82%8F%E3%82%8C%E3%82%84%E3%81%99%E3%81%84%E7%90%86%E7%94%B1%EF%BC%88%E8%A1%A8%E7%8F%BE%E5%9E%8B%E3%81%AE%E9%87%8D%E8%A4%87%EF%BC%89\" >3. EEC\u75c7\u5019\u7fa4\u3068\u9593\u9055\u308f\u308c\u3084\u3059\u3044\u7406\u7531\uff08\u8868\u73fe\u578b\u306e\u91cd\u8907\uff09<\/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\/19q13-11-microdeletion-syndrome\/#4_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%96%A2%E9%80%A3%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%88%E6%AC%A0%E5%A4%B1%E3%82%B5%E3%82%A4%E3%82%BA%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\" >4. \u539f\u56e0\u3068\u95a2\u9023\u907a\u4f1d\u5b50\uff08\u6b20\u5931\u30b5\u30a4\u30ba\u3068\u81e8\u754c\u9818\u57df\u306e\u5909\u9077\uff09<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-microdeletion-syndrome\/#WTIP%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E5%B0%BF%E9%81%93%E4%B8%8B%E8%A3%82\" >WTIP\u907a\u4f1d\u5b50\u3068\u5c3f\u9053\u4e0b\u88c2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-microdeletion-syndrome\/#UBA2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E7%9A%AE%E8%86%9A%E7%97%87%E7%8A%B6\" >UBA2\u907a\u4f1d\u5b50\u3068\u76ae\u819a\u75c7\u72b6<\/a><\/li><\/ul><\/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\/19q13-11-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-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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\" >\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-microdeletion-syndrome\/#19q1311%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\" >19q13.11\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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-microdeletion-syndrome\/#EEC%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\" >EEC\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-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/19q13-11-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_19q1311%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%8819%E7%95%AA%E6%9F%93%E8%89%B2%E4%BD%93%E9%95%B7%E8%85%95%E3%81%AE%E5%BE%AE%E5%B0%8F%E3%81%AA%E6%AC%A0%E5%A4%B1%EF%BC%89\"><\/span><strong>1. 19q13.11\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u306f\uff0819\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u5fae\u5c0f\u306a\u6b20\u5931\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>19q13.11<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306f\u300119\u756a\u67d3\u8272\u4f53\u306e\u9577\u815513.11\uff0819q13.11\uff09\u3068\u3044\u3046\u9818\u57df\u304c\u3001\u751f\u307e\u308c\u3064\u304d\u6570\u767e\u30ad\u30ed\u5869\u57fa\u304b\u3089\u5341\u6570\u30e1\u30ac\u5869\u57fa\u306b\u308f\u305f\u3063\u3066\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>\u3053\u306e\u75c5\u6c17\u304c\u521d\u3081\u3066\u533b\u5b66\u7684\u306b\u5831\u544a\u3055\u308c\u305f\u306e\u306f2009\u5e74\u306e\u3053\u3068\u3067\u3001Malan\u3089\u306e\u30b0\u30eb\u30fc\u30d7\u304c3\u4eba\u306e\u60a3\u8005\u306b\u5171\u901a\u3059\u308b\u767a\u80b2\u4e0d\u5168\u30fb\u767a\u9054\u9045\u5ef6\u30fb\u5c3f\u9053\u4e0b\u88c2\u30fb\u5916\u80da\u8449\u7570\u5f62\u6210\u3068\u3044\u3046\u7279\u5fb4\u3092\u3001\u30a2\u30ec\u30a4CGH\uff08\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff09\u306b\u3088\u3063\u3066\u7a81\u304d\u6b62\u3081\u3001\u72ec\u7acb\u3057\u305f\u75be\u60a3\u3068\u3057\u3066\u5831\u544a\u3057\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u5f8c\u3001\u81e8\u754c\u9818\u57df\uff08\u75c7\u72b6\u306b\u95a2\u308f\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u5171\u901a\u306e\u6b20\u5931\u90e8\u5206\uff09\u3092\u7d5e\u308a\u8fbc\u3080\u7814\u7a76\u304c\u7d9a\u304d\u30012009\u5e74\u306b\u7d04750\u30ad\u30ed\u5869\u57fa\u30012012\u5e74\u306b\u306f\u7d04460\u30ad\u30ed\u5869\u57fa\u307e\u3067\u7bc4\u56f2\u304c\u7cbe\u7dfb\u5316\u3055\u308c\u3066\u3044\u307e\u3059\u30022018\u5e74\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u96c6\u7a4d\u3067\u306f\u3001\u305d\u308c\u307e\u3067\u306e\u6587\u732e\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3092\u3042\u308f\u305b\u3066<strong>15\u4f8b<\/strong>\u304c\u89e3\u6790\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u304c\u73fe\u6642\u70b9\u3067\u5165\u624b\u3067\u304d\u308b\u3082\u3063\u3068\u3082\u8a73\u3057\u3044\u30c7\u30fc\u30bf\u3067\u3059\u3002\u4e16\u754c\u3067\u3082\u6570\u5341\u4f8b\u306b\u6e80\u305f\u306a\u3044\u3001\u6975\u3081\u3066\u307e\u308c\u306a\u75be\u60a3\u3002\u307e\u305a\u3053\u306e\u70b9\u3092\u62bc\u3055\u3048\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/4324110_s.jpg\" alt=\"\u306c\u3044\u3050\u308b\u307f\u3092\u8a3a\u5bdf\u3059\u308b\u7537\u306e\u5b50\" class=\"wp-image-87202\"\/><\/figure><\/div>\n\n\n<p>\u6b20\u5931\u306e\u5927\u304d\u3055\u306f\u5831\u544a\u4f8b\u306e\u3042\u3044\u3060\u3067<strong>1.37\u30e1\u30ac\u5869\u57fa\u304b\u308911\u30e1\u30ac\u5869\u57fa\u7a0b\u5ea6<\/strong>\u307e\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\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u8907\u96d1\u306b\u306a\u308b\u50be\u5411\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\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\/19p13-duplication-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">19p13 \u91cd\u8907\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">19p13\u91cd\u8907\u75c7\u5019\u7fa4\u306f\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u7570\u5e38\u3092\u4f34\u3046\u7a00\u306a\u907a\u4f1d\u75be\u60a3\u3067\u3059\u3002\u65e9\u671f\u652f\u63f4\u3067\u751f\u6d3b\u306e\u8cea\u3092\u5411\u4e0a\u3055\u305b\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3001\u9069\u5207\u306a\u533b\u7642\u652f\u63f4\u304c\u91cd\u8981\u3067...<\/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%8815%E7%97%87%E4%BE%8B%E3%81%AE%E7%B3%BB%E7%B5%B1%E7%9A%84%E3%83%AC%E3%83%93%E3%83%A5%E3%83%BC%E3%81%AB%E3%82%88%E3%82%8B%E3%83%87%E3%83%BC%E3%82%BF%EF%BC%89\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\uff0815\u75c7\u4f8b\u306e\u7cfb\u7d71\u7684\u30ec\u30d3\u30e5\u30fc\u306b\u3088\u308b\u30c7\u30fc\u30bf\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u767a\u80b2\u4e0d\u5168\u30fb\u767a\u9054\u9045\u5ef6\u30fb\u8a00\u8a9e\u9045\u5ef6\u30fb\u5c0f\u982d\u75c7\u306f\u307b\u307c\u5168\u4f8b\u306b\u5171\u901a\u3057\u3001\u76ae\u819a\u3084\u722a\u306e\u7570\u5e38\u3001\u7537\u5150\u306e\u5c3f\u9053\u4e0b\u88c2\u3082\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/strong>2018\u5e74\u306b\u767a\u8868\u3055\u308c\u305f\u75c7\u4f8b\u96c6\u7a4d\u7814\u7a76\u3067\u306f\u3001\u5831\u544a\u3055\u308c\u305f15\u4f8b\u306e\u30c7\u30fc\u30bf\u3092\u3082\u3068\u306b\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u304c\u3069\u306e\u304f\u3089\u3044\u306e\u5272\u5408\u3067\u73fe\u308c\u308b\u304b\u304c\u307e\u3068\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E8%82%B2%E3%83%BB%E7%99%BA%E9%81%94%E3%81%AE%E7%89%B9%E5%BE%B4\"><\/span>\u767a\u80b2\u30fb\u767a\u9054\u306e\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u51fa\u751f\u524d\u5f8c\u3092\u901a\u3058\u305f\u767a\u80b2\u4e0d\u5168\u3001\u767a\u9054\u9045\u5ef6\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u3001\u5c0f\u982d\u75c7\u306f\u3001\u3044\u305a\u308c\u3082\u5831\u544a\u4f8b\u306e\u5168\u4f8b\uff0815\u4f8b\u4e2d15\u4f8b\uff09\u306b\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6442\u98df\u56f0\u96e3\u308215\u4f8b\u4e2d14\u4f8b\u3068\u975e\u5e38\u306b\u9ad8\u3044\u983b\u5ea6\u3067\u898b\u3089\u308c\u3001\u7d4c\u7ba1\u6804\u990a\u306a\u3069\u51fa\u751f\u5f8c\u65e9\u671f\u304b\u3089\u306e\u6804\u990a\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002\u6b69\u884c\u306e\u7372\u5f97\u304c\u9045\u308c\u305f\u308a\u3001\u30d0\u30e9\u30f3\u30b9\u306e\u60aa\u3055\u3084\u4e0d\u5668\u7528\u3055\u3001\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\u304c\u307f\u3089\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u3082\u5831\u544a\u306b\u542b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%96%E8%83%9A%E8%91%89%E7%95%B0%E5%BD%A2%E6%88%90%E3%81%AB%E3%82%88%E3%82%8B%E7%9A%AE%E8%86%9A%E3%83%BB%E6%AF%9B%E9%AB%AA%E3%81%AE%E7%97%87%E7%8A%B6\"><\/span>\u5916\u80da\u8449\u7570\u5f62\u6210\u306b\u3088\u308b\u76ae\u819a\u30fb\u6bdb\u9aea\u306e\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u982d\u9802\u90e8\u6b63\u4e2d\u7dda\u306b\u6cbf\u3063\u305f\u76ae\u819a\u6b20\u640d\uff08\u982d\u76ae\u306e\u76ae\u819a\u7121\u5f62\u6210\uff09\u306f15\u4f8b\u4e2d11\u4f8b\u3001\u6bdb\u9aea\u30fb\u7709\u6bdb\u30fb\u307e\u3064\u6bdb\u306e\u7570\u5e38\u306f15\u4f8b\u4e2d12\u4f8b\u3001\u76ae\u819a\u304c\u8584\u304f\u4e7e\u71e5\u3057\u3084\u3059\u3044\u50be\u5411\u306f15\u4f8b\u4e2d8\u4f8b\u306b\u898b\u3089\u308c\u307e\u3057\u305f\u3002\u722a\u306e\u5f62\u6210\u7570\u5e38\u304c\u52a0\u308f\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u3053\u308c\u3089\u3092\u307e\u3068\u3081\u3066\u300c\u5916\u80da\u8449\u7570\u5f62\u6210\u300d\u3068\u547c\u3073\u307e\u3059\u3002\u9577\u3044\u9854\u3064\u304d\u3001\u5e83\u3044\u524d\u984d\u90e8\u3001\u5f8c\u9000\u3057\u305f\u4e0b\u984e\u3001\u8584\u3044\u5507\u3001V\u5b57\u578b\u306e\u9f3b\u5148\u3068\u3044\u3063\u305f\u9854\u7acb\u3061\u306e\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u90e8\u5206\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%BF%E9%81%93%E4%B8%8B%E8%A3%82%E3%83%BB%E6%89%8B%E8%B6%B3%E3%81%AE%E7%95%B0%E5%B8%B8\"><\/span>\u5c3f\u9053\u4e0b\u88c2\u30fb\u624b\u8db3\u306e\u7570\u5e38<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7537\u5150\u3067\u306f\u5c3f\u9053\u4e0b\u88c2\u304c\u5831\u544a\u4f8b\u5168\u54e1\uff0810\u4f8b\u4e2d10\u4f8b\uff09\u306b\u898b\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u306e\u75c5\u6c17\u3092\u7591\u3046\u304d\u3063\u304b\u3051\u306b\u306a\u308a\u3084\u3059\u3044\u6240\u898b\u3067\u3059\u3002\u6307\u8dbe\u306e\u7652\u5408\uff08\u5408\u6307\u75c7\uff09\u306f15\u4f8b\u4e2d8\u4f8b\u3001\u88c2\u624b\u30fb\u88c2\u8db3\uff08\u6307\u306e\u4e00\u90e8\u304c\u5927\u304d\u304f\u6b20\u3051\u305f\u3088\u3046\u306a\u5f62\u614b\uff09\u306f15\u4f8b\u4e2d2\u4f8b\u306b\u898b\u3089\u308c\u307e\u3057\u305f\u3002\u5148\u5929\u6027\u5fc3\u75be\u60a3\u306f\u8a55\u4fa1\u3055\u308c\u305f13\u4f8b\u4e2d7\u4f8b\u3068\u534a\u6570\u3092\u8d85\u3048\u3066\u304a\u308a\u3001\u51fa\u751f\u5f8c\u306e\u5fc3\u81d3\u8a55\u4fa1\u3082\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/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>\u51fa\u751f\u524d\u5f8c\u306e\u767a\u80b2\u4e0d\u5168<\/td><td>100%\uff0815\u4f8b\u4e2d15\u4f8b\uff09<\/td><\/tr><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>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c<\/td><td>100%\uff0815\u4f8b\u4e2d15\u4f8b\uff09<\/td><\/tr><tr><td>\u5c0f\u982d\u75c7<\/td><td>100%\uff0815\u4f8b\u4e2d15\u4f8b\uff09<\/td><\/tr><tr><td>\u6442\u98df\u56f0\u96e3<\/td><td>93.3%\uff0815\u4f8b\u4e2d14\u4f8b\uff09<\/td><\/tr><tr><td>\u5c3f\u9053\u4e0b\u88c2\uff08\u7537\u5150\uff09<\/td><td>100%\uff0810\u4f8b\u4e2d10\u4f8b\uff09<\/td><\/tr><tr><td>\u6bdb\u9aea\u30fb\u7709\u6bdb\u30fb\u307e\u3064\u6bdb\u306e\u7570\u5e38<\/td><td>80.0%\uff0815\u4f8b\u4e2d12\u4f8b\uff09<\/td><\/tr><tr><td>\u982d\u76ae\u6b63\u4e2d\u7dda\u306e\u76ae\u819a\u6b20\u640d<\/td><td>73.3%\uff0815\u4f8b\u4e2d11\u4f8b\uff09<\/td><\/tr><tr><td>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/td><td>53.8%\uff0813\u4f8b\u4e2d7\u4f8b\uff09<\/td><\/tr><tr><td>\u5408\u6307\u75c7<\/td><td>53.3%\uff0815\u4f8b\u4e2d8\u4f8b\uff09<\/td><\/tr><tr><td>\u76ae\u819a\u304c\u8584\u3044\u30fb\u4e7e\u71e5<\/td><td>53.3%\uff0815\u4f8b\u4e2d8\u4f8b\uff09<\/td><\/tr><tr><td>\u88c2\u624b\u30fb\u88c2\u8db3<\/td><td>13.3%\uff0815\u4f8b\u4e2d2\u4f8b\uff09<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u5831\u544a\u4f8b\u306e\u4e00\u90e8\u3067\u306f\u3001\u4e0b\u5782\u4f53\u6a5f\u80fd\u306e\u4f4e\u4e0b\u3084\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u3092\u5408\u4f75\u3057\u305f\u30b1\u30fc\u30b9\u3082\u7d39\u4ecb\u3055\u308c\u3066\u3044\u307e\u3059\u30022012\u5e74\u306b\u5831\u544a\u3055\u308c\u305f\u30a4\u30bf\u30ea\u30a2\u306e\u60a3\u8005\u306f\u3001\u3053\u306e\u75c5\u6c17\u306e\u5178\u578b\u7684\u306a\u7279\u5fb4\u306b\u52a0\u3048\u3066\u8907\u6570\u306e\u4e0b\u5782\u4f53\u30db\u30eb\u30e2\u30f3\u306e\u6b20\u4e4f\u3092\u4f34\u3063\u3066\u3044\u307e\u3057\u305f\u3002\u3059\u3079\u3066\u306e\u60a3\u8005\u306b\u5171\u901a\u3059\u308b\u6240\u898b\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u4f4e\u8eab\u9577\u304c\u7d9a\u304f\u5834\u5408\u306f\u5185\u5206\u6ccc\u306e\u8a55\u4fa1\u3082\u9078\u629e\u80a2\u306b\u5165\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=\"3_EEC%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E9%96%93%E9%81%95%E3%82%8F%E3%82%8C%E3%82%84%E3%81%99%E3%81%84%E7%90%86%E7%94%B1%EF%BC%88%E8%A1%A8%E7%8F%BE%E5%9E%8B%E3%81%AE%E9%87%8D%E8%A4%87%EF%BC%89\"><\/span><strong>3. EEC\u75c7\u5019\u7fa4\u3068\u9593\u9055\u308f\u308c\u3084\u3059\u3044\u7406\u7531\uff08\u8868\u73fe\u578b\u306e\u91cd\u8907\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u88c2\u624b\u30fb\u88c2\u8db3\u3001\u5916\u80da\u8449\u7570\u5f62\u6210\u3001\u76ae\u819a\u75c7\u72b6\u3068\u3044\u3046\u5171\u901a\u70b9\u304c\u591a\u3044\u305f\u3081\u300119q13.11<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306fEEC\u75c7\u5019\u7fa4\uff08\u88c2\u624b\u88c2\u8db3\u5916\u80da\u8449\u7570\u5f62\u6210\u88c2\u578b\u75c7\u5019\u7fa4\uff09\u3068\u81e8\u5e8a\u7684\u306b\u533a\u5225\u3057\u306b\u304f\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>2018\u5e74\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3067\u306f\u3001\u5b9f\u969b\u306b\u3042\u308b\u60a3\u8005\u304c9\u5e74\u9593EEC\u75c7\u5019\u7fa4\u3068\u3057\u3066\u7d4c\u904e\u89b3\u5bdf\u3055\u308c\u305f\u306e\u3061\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\u3063\u306619q13.11\u306e\u6b20\u5931\u304c\u5224\u660e\u3057\u305f\u3068\u3044\u3046\u7d4c\u7def\u304c\u7d39\u4ecb\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8ad6\u6587\u306e\u8457\u8005\u3089\u306f\u3001\u88c2\u624b\u30fb\u88c2\u8db3\u3084\u5916\u80da\u8449\u7570\u5f62\u6210\u3001\u53e3\u5507\u88c2\u30fb\u53e3\u84cb\u88c2\u3068\u3044\u3063\u305fEEC\u75c7\u5019\u7fa4\u3092\u7591\u3046\u6240\u898b\u304c\u3042\u308b\u60a3\u8005\u306b\u5bfe\u3057\u3066\u306f\u300119q13.11\u9818\u57df\u306e\u6b20\u5931\u3082\u691c\u67fb\u5bfe\u8c61\u306b\u542b\u3081\u308b\u3079\u304d\u3060\u3068\u6307\u6458\u3057\u3066\u3044\u307e\u3059\u3002\u898b\u305f\u76ee\u306e\u75c7\u72b6\u3060\u3051\u3067\u5224\u65ad\u305b\u305a\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\u88cf\u4ed8\u3051\u3092\u53d6\u308b\u3053\u3068\u304c\u3001\u6b63\u78ba\u306a\u8a3a\u65ad\u3068\u4eca\u5f8c\u306e\u898b\u901a\u3057\u306e\u8aac\u660e\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u6bd4\u8f03\u9805\u76ee<\/th><th>19q13.11<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4<\/th><th>EEC\u75c7\u5019\u7fa4<\/th><\/tr><\/thead><tbody><tr><td>\u539f\u56e0<\/td><td>19q13.11\u9818\u57df\u306e\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a><\/td><td>\u4e3b\u306bTP63\u907a\u4f1d\u5b50\u306e\u5909\u7570<\/td><\/tr><tr><td>\u88c2\u624b\u30fb\u88c2\u8db3<\/td><td>\u4e00\u90e8\u306e\u75c7\u4f8b\u306b\u898b\u3089\u308c\u308b\uff0815\u4f8b\u4e2d2\u4f8b\uff09<\/td><td>\u4e2d\u6838\u3068\u306a\u308b\u7279\u5fb4<\/td><\/tr><tr><td>\u5916\u80da\u8449\u7570\u5f62\u6210\u30fb\u76ae\u819a\u75c7\u72b6<\/td><td>\u9ad8\u983b\u5ea6\u306b\u898b\u3089\u308c\u308b<\/td><td>\u4e2d\u6838\u3068\u306a\u308b\u7279\u5fb4<\/td><\/tr><tr><td><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u30fb\u767a\u9054\u9045\u5ef6<\/td><td>\u307b\u307c\u5168\u4f8b\u306b\u898b\u3089\u308c\u308b<\/td><td>\u901a\u5e38\u306f\u76ee\u7acb\u305f\u306a\u3044<\/td><\/tr><tr><td>\u78ba\u5b9a\u691c\u67fb<\/td><td>\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<\/td><td>TP63\u907a\u4f1d\u5b50\u691c\u67fb<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%8E%9F%E5%9B%A0%E3%81%A8%E9%96%A2%E9%80%A3%E9%81%BA%E4%BC%9D%E5%AD%90%EF%BC%88%E6%AC%A0%E5%A4%B1%E3%82%B5%E3%82%A4%E3%82%BA%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>4. \u539f\u56e0\u3068\u95a2\u9023\u907a\u4f1d\u5b50\uff08\u6b20\u5931\u30b5\u30a4\u30ba\u3068\u81e8\u754c\u9818\u57df\u306e\u5909\u9077\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u75c7\u72b6\u306b\u5f37\u304f\u95a2\u308f\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u5171\u901a\u306e\u6b20\u5931\u7bc4\u56f2\uff08\u81e8\u754c\u9818\u57df\uff09\u306f\u3001\u7814\u7a76\u304c\u9032\u3080\u306b\u3064\u308c\u3066750\u30ad\u30ed\u5869\u57fa\u304b\u3089460\u30ad\u30ed\u5869\u57fa\u3078\u3068\u7d5e\u308a\u8fbc\u307e\u308c\u3066\u304d\u307e\u3057\u305f\u3002<\/strong>2009\u5e74\u306e\u6700\u521d\u306e\u5831\u544a\u3067\u306f\u7d04750\u30ad\u30ed\u5869\u57fa\u3068\u3055\u308c\u3066\u3044\u305f\u81e8\u754c\u9818\u57df\u304c\u30012012\u5e74\u306e\u8ffd\u52a0\u75c7\u4f8b\u306e\u89e3\u6790\u3067\u7d04460\u30ad\u30ed\u5869\u57fa\u307e\u3067\u7cbe\u7dfb\u5316\u3055\u308c\u3001\u3053\u306e\u7bc4\u56f2\u306b\u306f4\u3064\u306eZNF\u907a\u4f1d\u5b50\uff08ZNF302\u3001ZNF181\u3001ZNF599\u3001ZNF30\uff09\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u5206\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"WTIP%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E5%B0%BF%E9%81%93%E4%B8%8B%E8%A3%82\"><\/span>WTIP\u907a\u4f1d\u5b50\u3068\u5c3f\u9053\u4e0b\u88c2<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u81e8\u754c\u9818\u57df\u306b\u8fd1\u63a5\u3059\u308bWTIP\u907a\u4f1d\u5b50\u306f\u3001\u814e\u81d3\u306e\u767a\u751f\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u7537\u5150\u306e\u5c3f\u9053\u4e0b\u88c2\u304c\u5831\u544a\u4f8b\u306e\u307b\u307c\u5168\u54e1\u306b\u898b\u3089\u308c\u308b\u3053\u3068\u304b\u3089\u3001WTIP\u907a\u4f1d\u5b50\u306e\u91cf\u304c\u534a\u5206\u306b\u6e1b\u308b\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\u300d\u304c\u5c3f\u9053\u4e0b\u88c2\u306e\u767a\u751f\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"UBA2%E9%81%BA%E4%BC%9D%E5%AD%90%E3%81%A8%E7%9A%AE%E8%86%9A%E7%97%87%E7%8A%B6\"><\/span>UBA2\u907a\u4f1d\u5b50\u3068\u76ae\u819a\u75c7\u72b6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>UBA2\u907a\u4f1d\u5b50\u306f\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u6a5f\u80fd\u3092\u8abf\u7bc0\u3059\u308bSUMO\u5316\u3068\u3044\u3046\u4ed5\u7d44\u307f\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3067\u3059\u3002\u982d\u76ae\u306e\u76ae\u819a\u6b20\u640d\u3084\u76ae\u819a\u304c\u8584\u3044\u3068\u3044\u3063\u305f\u5916\u80da\u8449\u7570\u5f62\u6210\u306e\u75c7\u72b6\u306b\u3001UBA2\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u95a2\u4fc2\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u75c7\u4f8b\u5831\u544a\u3067\u8b70\u8ad6\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u306e\u307b\u304b\u3001\u8102\u80aa\u7d44\u7e54\u306e\u767a\u9054\u306b\u95a2\u308f\u308bCEBPA\u907a\u4f1d\u5b50\u3082\u81e8\u754c\u9818\u57df\u306e\u8fd1\u304f\u306b\u4f4d\u7f6e\u3057\u3001\u6210\u9577\u3084\u4f53\u683c\u3078\u306e\u5f71\u97ff\u3068\u306e\u95a2\u9023\u304c\u5019\u88dc\u3068\u3057\u3066\u6319\u3052\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u3053\u308c\u3089\u306f\u3044\u305a\u308c\u3082\u75c7\u4f8b\u5831\u544a\u306e\u7a4d\u307f\u91cd\u306d\u304b\u3089\u5c0e\u304b\u308c\u305f\u300c\u5019\u88dc\u907a\u4f1d\u5b50\u300d\u3067\u3042\u308a\u3001\u305d\u308c\u305e\u308c\u306e\u907a\u4f1d\u5b50\u304c\u3069\u306e\u75c7\u72b6\u306b\u3069\u3053\u307e\u3067\u8cac\u4efb\u3092\u6301\u3064\u306e\u304b\u306f\u3001\u307e\u3060\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u5831\u544a\u6570\u304c\u5c11\u306a\u3044\u75c5\u6c17\u3060\u304b\u3089\u3053\u305d\u3001\u4eca\u5f8c\u306e\u75c7\u4f8b\u306e\u84c4\u7a4d\u304c\u8a3a\u65ad\u3084\u898b\u901a\u3057\u306e\u7cbe\u5ea6\u3092\u9ad8\u3081\u3066\u3044\u304f\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/15q14-microdeletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">15q14 \u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">15q14\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u554f\u984c\u3001\u5185\u81d3\u306e\u7570\u5e38\u306a\u3069\u3092\u5f15\u304d\u8d77\u3053\u3059\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u65e9\u671f\u306e\u7642\u80b2\u652f\u63f4\u3068\u9069\u5207\u306a\u6cbb\u7642\u306b\u3088\u308a\u3001\u751f\u6d3b\u306e...<\/div>\n      <\/div>\n    <\/a>\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\u306f\u3001\u3044\u305a\u308c\u3082\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\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<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=\"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\u300119q13.11\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\u306f460\u30ad\u30ed\u5869\u57fa\u304b\u3089\u6570\u30e1\u30ac\u5869\u57fa\u7a0b\u5ea6\u3068\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\u304a\u308a\u3001\u67d3\u8272\u4f53\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306b\u4f34\u3046\u75be\u60a3\u7fa4\u304c\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5bfe\u8c61\u306b\u542b\u307e\u308c\u307e\u3059\u3002\u5bfe\u8c61\u306b\u306a\u308b\u304b\u3069\u3046\u304b\u306f\u3001\u691c\u67fb\u3092\u53d7\u3051\u308b\u524d\u306b\u30d7\u30e9\u30f3\u306e\u691c\u67fb\u7bc4\u56f2\u8868\u3067\u78ba\u8a8d\u3057\u3066\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\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\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\"><\/span>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09<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\u3001\u6b20\u5931\u304c\u3069\u306e\u7bc4\u56f2\u306b\u3069\u308c\u3060\u3051\u53ca\u3093\u3067\u3044\u308b\u304b\u3092\u8a73\u7d30\u306b\u78ba\u8a8d\u3067\u304d\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\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\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\u66f2\u7dda\u306e\u78ba\u8a8d\u3001\u767a\u9054\u8a55\u4fa1\u3001\u5fc3\u81d3\u8d85\u97f3\u6ce2\u691c\u67fb\u3001\u76ae\u819a\u79d1\u30fb\u6ccc\u5c3f\u5668\u79d1\u3067\u306e\u8a3a\u5bdf\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<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=\"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\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>\u6804\u990a\u30b5\u30dd\u30fc\u30c8<\/strong>\uff1a \u6442\u98df\u56f0\u96e3\u304c\u3042\u308b\u5834\u5408\u3001\u51fa\u751f\u5f8c\u65e9\u671f\u304b\u3089\u7d4c\u7ba1\u6804\u990a\u3084\u6804\u990a\u58eb\u306b\u3088\u308b\u6307\u5c0e\u304c\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4f53\u91cd\u3084\u8eab\u9577\u306e\u4f38\u3073\u3092\u5b9a\u671f\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\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\u5c31\u5b66\u524d\u304b\u3089\u7642\u80b2\u3092\u59cb\u3081\u308b\u3053\u3068\u3067\u3001\u65e5\u5e38\u751f\u6d3b\u306e\u529b\u3092\u6bb5\u968e\u7684\u306b\u4f38\u3070\u3057\u3066\u3044\u3051\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u30fb\u6bdb\u9aea\u306e\u30b1\u30a2<\/strong>\uff1a \u76ae\u819a\u304c\u8584\u304f\u4e7e\u71e5\u3057\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308b\u305f\u3081\u3001\u4fdd\u6e7f\u30b1\u30a2\u3092\u65e5\u5e38\u7684\u306b\u7d9a\u3051\u307e\u3059\u3002\u982d\u76ae\u306e\u76ae\u819a\u6b20\u640d\u304c\u3042\u308b\u5834\u5408\u306f\u76ae\u819a\u79d1\u3067\u306e\u7d4c\u904e\u89b3\u5bdf\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5916\u79d1\u7684\u306a\u5bfe\u5fdc<\/strong>\uff1a \u5c3f\u9053\u4e0b\u88c2\u306f\u6ccc\u5c3f\u5668\u79d1\u3067\u306e\u624b\u8853\u304c\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002\u5148\u5929\u6027\u5fc3\u75be\u60a3\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u5fc3\u81d3\u306e\u72b6\u614b\u306b\u5fdc\u3058\u3066\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\u76ae\u819a\u79d1\u30fb\u6ccc\u5c3f\u5668\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\u5916\u6765\u3067\u300c\u3069\u306e\u79d1\u304b\u3089\u8a3a\u3066\u3082\u3089\u3048\u3070\u3088\u3044\u304b\u5206\u304b\u3089\u306a\u3044\u300d\u3068\u3044\u3046\u58f0\u3092\u805e\u304f\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\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\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\u6442\u98df\u56f0\u96e3\u3084\u5fc3\u75be\u60a3\u306a\u3069\u51fa\u751f\u5f8c\u65e9\u671f\u306e\u533b\u7642\u7684\u306a\u8ab2\u984c\u3092\u4e57\u308a\u8d8a\u3048\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\u6d77\u5916\u306b\u306f19q13.11\u6b20\u5931\u3092\u6301\u3064\u5bb6\u65cf\u3069\u3046\u3057\u306e\u60c5\u5831\u4ea4\u63db\u3092\u884c\u3046\u60a3\u8005\u4f1a\u30fb\u652f\u63f4\u56e3\u4f53\u3082\u5b58\u5728\u3057\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>\u4ed6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u6c17\u306b\u306a\u308b\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/microdeletion-syndrome\/\">\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u5fae\u5c0f\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3001NIPT\u5168\u822c\u3067\u898b\u3064\u304b\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u75c5\u6c17\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-detectable-conditions\/\">NIPT\u3067\u898b\u3064\u304b\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u969c\u5bb3\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\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=\"19q1311%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>19q13.11\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>19\u756a\u67d3\u8272\u4f53\u306e\u9577\u815513.11\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\u80b2\u4e0d\u5168\u3001\u767a\u9054\u9045\u5ef6\u3001\u5916\u80da\u8449\u7570\u5f62\u6210\u306b\u3088\u308b\u76ae\u819a\u30fb\u6bdb\u9aea\u306e\u7570\u5e38\u3001\u7537\u5150\u306e\u5c3f\u9053\u4e0b\u88c2\u306a\u3069\u304c\u4e3b\u306a\u7279\u5fb4\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\u6570\u5341\u4f8b\u306b\u6e80\u305f\u306a\u3044\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u75be\u60a3\u3067\u3059\u30022018\u5e74\u6642\u70b9\u3067\u7cfb\u7d71\u7684\u306b\u89e3\u6790\u3055\u308c\u305f\u75c7\u4f8b\u306f15\u4f8b\u306b\u3068\u3069\u307e\u3063\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=\"EEC%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>EEC\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>\u88c2\u624b\u30fb\u88c2\u8db3\u3084\u5916\u80da\u8449\u7570\u5f62\u6210\u3068\u3044\u3046\u5171\u901a\u70b9\u304c\u3042\u308a\u3001\u81e8\u5e8a\u7684\u306b\u533a\u5225\u3057\u306b\u304f\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5b9f\u969b\u306b9\u5e74\u9593EEC\u75c7\u5019\u7fa4\u3068\u8a3a\u65ad\u3055\u308c\u3066\u3044\u305f\u60a3\u8005\u304c\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\u306719q13.11\u6b20\u5931\u3068\u5224\u660e\u3057\u305f\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002\u539f\u56e0\u907a\u4f1d\u5b50\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u78ba\u5b9a\u306b\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\u304c\u5fc5\u8981\u3067\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\u306f\u3044\u305a\u308c\u3082\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\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\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u3002\u6442\u98df\u56f0\u96e3\u3078\u306e\u6804\u990a\u30b5\u30dd\u30fc\u30c8\u3001\u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u306b\u3088\u308b\u767a\u9054\u652f\u63f4\u3001\u76ae\u819a\u306e\u4fdd\u6e7f\u30b1\u30a2\u3001\u5c3f\u9053\u4e0b\u88c2\u306e\u5916\u79d1\u7684\u5bfe\u5fdc\u3001\u5fc3\u75be\u60a3\u304c\u3042\u308c\u3070\u5c0f\u5150\u5faa\u74b0\u5668\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\u3001Orphanet\u30fb\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\/19126570\/\" target=\"_blank\" rel=\"noopener\">Malan V, Raoul O, Firth HV, Royer G, Turleau C, Bernheim A, Willatt L, Munnich A, Vekemans M, Lyonnet S, Cormier-Daire V, Colleaux L. (2009). 19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation. <em>Journal of Medical Genetics<\/em>, 46(9), 635\u2013640.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/19487540\/\" target=\"_blank\" rel=\"noopener\">Schuurs-Hoeijmakers JHM, Vermeer S, van Bon BWM, Pfundt R, Marcelis C, de Brouwer APM, de Leeuw N, de Vries BBA. (2009). Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb. <em>Journal of Medical Genetics<\/em>, 46(6), 421\u2013423.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.sciencedirect.com\/science\/article\/abs\/pii\/S1769721212000845\" target=\"_blank\" rel=\"noopener\">Forzano F, Napoli F, Uliana V, Malacarne M, Viaggi C, Bloise R, et al. (2012). 19q13 microdeletion syndrome: Further refining the critical region. <em>European Journal of Medical Genetics<\/em>, 55(6-7), 429\u2013432.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC6028370\/\" target=\"_blank\" rel=\"noopener\">Abe KT, Rizzo IMPO, Coelho ALV, Sakai N Jr, Carvalho DR, Speck-Martins CE. (2018). 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia\u2010clefting syndrome phenotype. <em>Clinical Case Reports<\/em>, 6(7), 1300\u20131307. https:\/\/doi.org\/10.1002\/ccr3.1600<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.nature.com\/articles\/ejhg201219\" target=\"_blank\" rel=\"noopener\">19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. <em>European Journal of Human Genetics<\/em>.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/link.springer.com\/article\/10.1186\/s13039-014-0061-z\" target=\"_blank\" rel=\"noopener\">19q13.11 microdeletion concomitant with ins(2;19)(p25.3;q13.1q13.4)dn in a boy: potential role of UBA2 in the associated phenotype. <em>Molecular Cytogenetics<\/em>.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/217346\" target=\"_blank\" rel=\"noopener\">Orphanet. 19q13.11 microdeletion syndrome. ORPHA:217346.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/10592\/chromosome-19q1311-deletion-syndrome\" target=\"_blank\" rel=\"noopener\">Genetic and Rare Diseases Information Center (GARD), National Institutes of Health. Chromosome 19q13.11 deletion syndrome.<\/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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