{"id":3147,"date":"2020-07-01T09:19:11","date_gmt":"2020-07-01T00:19:11","guid":{"rendered":"https:\/\/www2.hiro-clinic.or.jp\/?p=3147"},"modified":"2026-02-27T11:21:39","modified_gmt":"2026-02-27T02:21:39","slug":"nipt-cohort-study","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/","title":{"rendered":"\u7570\u306a\u308b\u81e8\u5e8a\u50cf\u3092\u6301\u306442910\u4eba\u306e\u598a\u5a66\uff08\u5358\u80ce\uff09\u306b\u304a\u3051\u308b\u7570\u6570\u6027\u53ca\u3073\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df\u90e8\u5206\u6b20\u5931\u30fb\u91cd\u8907\u75be\u60a3\u3092NIPT\u3067\u691c\u51fa\u3059\u308b\u30b3\u30db\u30fc\u30c8\u8a66\u9a13"},"content":{"rendered":"\n<div class=\"wp-block-group nipu-report\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading hidden-heading\"><\/h2>\n\n\n\n<p>Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions\/ microduplications in a cohort of 42,910 single pregnancies with different clinical features<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group author\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p>Yibo Chen<sup>1<\/sup>, Qi Yu<sup>1<\/sup>, Xiongying Mao<sup>1<\/sup>, Wei Lei<sup>2<\/sup>, Miaonan He<sup>3<\/sup> and Wenbo Lu<sup>1*<\/sup><\/p>\n\n\n\n<p><sup>1<\/sup>Ningbo Women and Children Hospital, No.339, Liuting Street, Haishu District Ningbo, Ningbo 315010, China<\/p>\n<\/div><\/div>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<section class=\"note_table table_0\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 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 ' ><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#42910%E4%BA%BA%E3%81%AE%E5%8D%98%E8%83%8E%E5%85%90%E3%81%AE%E5%A6%8A%E5%A9%A6%E3%81%AE%E6%A4%9C%E6%9F%BB%E6%99%82\" >42,910\u4eba\u306e\u5358\u80ce\u5150\u306e\u598a\u5a66\u306e\u691c\u67fb\u6642<\/a><\/li><\/ul><\/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\/nipt-cohort-study\/#%EF%BC%83%E8%A6%81%E7%B4%84\" >\uff03\u8981\u7d04<\/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\/nipt-cohort-study\/#%E4%B8%8A%E8%A8%98%E8%AB%96%E6%96%87%E3%81%AE%E8%80%83%E5%AF%9F\" >\u4e0a\u8a18\u8ad6\u6587\u306e\u8003\u5bdf<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\" >\u306f\u3058\u3081\u306b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E7%B5%90%E6%9E%9C\" >\u7d50\u679c<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E6%82%A3%E8%80%85%E8%83%8C%E6%99%AF\" >\u60a3\u8005\u80cc\u666f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E5%85%A8%E5%A6%8A%E5%A8%A0%E3%81%AE%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E7%B5%90%E6%9E%9C\" >\u5168\u598a\u5a20\u306e\u51fa\u751f\u524d\u8a3a\u65ad\u7d50\u679c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#T21%E3%80%81T18%E3%80%81T13%E3%80%81%E3%81%8A%E3%82%88%E3%81%B3SCA%E3%81%AENIPT%E7%B5%90%E6%9E%9C\" >T21\u3001T18\u3001T13\u3001\u304a\u3088\u3073SCA\u306eNIPT\u7d50\u679c<\/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\/nipt-cohort-study\/#%E8%A1%A81_NIPT%E3%82%92%E5%8F%97%E3%81%91%E3%81%9F%E5%A6%8A%E5%A9%A6%E3%81%AE%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4\" >\u88681 NIPT\u3092\u53d7\u3051\u305f\u598a\u5a66\u306e\u81e8\u5e8a\u7684\u7279\u5fb4<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#CNV%E3%81%8A%E3%82%88%E3%81%B3%E4%BB%96%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E7%95%B0%E6%95%B0%E6%80%A7%E3%81%AENIPT%E7%B5%90%E6%9E%9C\" >CNV\u304a\u3088\u3073\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u306eNIPT\u7d50\u679c<\/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\/nipt-cohort-study\/#%E8%A1%A82_%E9%9D%9E%E4%BE%B5%E8%A5%B2%E7%9A%84%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%ADNIPT%E6%9F%93%E8%89%B2%E4%BD%93%E7%95%B0%E6%95%B0%E6%80%A7%E3%81%AE%E6%80%A7%E8%83%BD\" >\u88682 \u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u8a3a\u65ad(NIPT)\u67d3\u8272\u4f53\u7570\u6570\u6027\u306e\u6027\u80fd<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E8%80%83%E5%AF%9F\" >\u8003\u5bdf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E8%A1%A83_%E5%90%84%E6%9F%93%E8%89%B2%E4%BD%93%E4%B8%8A%E3%81%AECNV%E3%81%8A%E3%82%88%E3%81%B3%E4%BB%96%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E7%95%B0%E6%95%B0%E6%80%A7%E3%81%AE%E5%A4%A7%E3%81%8D%E3%81%95%E3%81%A8%E6%95%B0\" >\u88683 \u5404\u67d3\u8272\u4f53\u4e0a\u306eCNV\u304a\u3088\u3073\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u306e\u5927\u304d\u3055\u3068\u6570<\/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\/nipt-cohort-study\/#%E8%A1%A84_CNV%E3%82%B5%E3%82%A4%E3%82%BA%E3%81%AB%E5%BF%9C%E3%81%98%E3%81%9FPPV\" >\u88684 CNV\u30b5\u30a4\u30ba\u306b\u5fdc\u3058\u305fPPV<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E8%A1%A85_%E5%A6%8A%E5%A8%A0%E7%89%B9%E6%80%A7%E3%81%AB%E5%BF%9C%E3%81%98%E3%81%A6%E7%95%B0%E3%81%AA%E3%82%8BPPV\" >\u88685 \u598a\u5a20\u7279\u6027\u306b\u5fdc\u3058\u3066\u7570\u306a\u308bPPV<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E7%B5%90%E8%AB%96\" >\u7d50\u8ad6<\/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\/nipt-cohort-study\/#%E6%9D%90%E6%96%99%E3%81%8A%E3%82%88%E3%81%B3%E6%96%B9%E6%B3%95\" >\u6750\u6599\u304a\u3088\u3073\u65b9\u6cd5<\/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\/nipt-cohort-study\/#%E8%A1%80%E6%B8%85%E5%AD%A6%E7%9A%84%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%E3%81%8A%E3%82%88%E3%81%B3%E8%B6%85%E9%9F%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\" >\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304a\u3088\u3073\u8d85\u97f3\u6ce2\u691c\u67fb<\/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\/nipt-cohort-study\/#%E9%85%8D%E5%88%97%E6%B1%BA%E5%AE%9A\" >\u914d\u5217\u6c7a\u5b9a<\/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\/nipt-cohort-study\/#%E6%A0%B8%E5%9E%8B%E5%88%86%E6%9E%90%E3%81%8A%E3%82%88%E3%81%B3%E7%BE%8A%E6%B0%B4%E7%A9%BF%E5%88%BA\" >\u6838\u578b\u5206\u6790\u304a\u3088\u3073\u7f8a\u6c34\u7a7f\u523a<\/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\/nipt-cohort-study\/#%E9%99%B0%E6%80%A7%E4%BE%8B%E3%81%AE%E8%BF%BD%E8%B7%A1%E8%AA%BF%E6%9F%BB\" >\u9670\u6027\u4f8b\u306e\u8ffd\u8de1\u8abf\u67fb<\/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\/nipt-cohort-study\/#%E7%B5%B1%E8%A8%88%E8%A7%A3%E6%9E%90\" >\u7d71\u8a08\u89e3\u6790<\/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\/nipt-cohort-study\/#%E7%95%A5%E8%AA%9E\" >\u7565\u8a9e<\/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\/nipt-cohort-study\/#%E8%AC%9D%E8%BE%9E\" >\u8b1d\u8f9e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E8%91%97%E8%80%85%E3%81%AE%E8%B2%A2%E7%8C%AE\" >\u8457\u8005\u306e\u8ca2\u732e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E8%B3%87%E9%87%91%E8%AA%BF%E9%81%94\" >\u8cc7\u91d1\u8abf\u9054<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E3%83%87%E3%83%BC%E3%82%BF%E5%8F%8A%E3%81%B3%E8%B3%87%E6%96%99%E3%81%AE%E5%85%A5%E6%89%8B%E5%8F%AF%E8%83%BD%E6%80%A7\" >\u30c7\u30fc\u30bf\u53ca\u3073\u8cc7\u6599\u306e\u5165\u624b\u53ef\u80fd\u6027<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E5%80%AB%E7%90%86%E7%9A%84%E6%89%BF%E8%AA%8D%E3%83%BB%E5%8F%82%E5%8A%A0%E5%90%8C%E6%84%8F\" >\u502b\u7406\u7684\u627f\u8a8d\u30fb\u53c2\u52a0\u540c\u610f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E5%85%AC%E8%A1%A8%E3%81%AB%E5%AF%BE%E3%81%99%E3%82%8B%E5%90%8C%E6%84%8F\" >\u516c\u8868\u306b\u5bfe\u3059\u308b\u540c\u610f<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-30\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E5%88%A9%E7%9B%8A%E7%9B%B8%E5%8F%8D\" >\u5229\u76ca\u76f8\u53cd<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-31\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E8%91%97%E8%80%85%E3%81%AE%E8%A9%B3%E7%B4%B0\" >\u8457\u8005\u306e\u8a73\u7d30<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-32\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-33\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/#%E5%87%BA%E7%89%88%E7%A4%BE%E3%81%AE%E6%B3%A8%E8%A8%98\" >\u51fa\u7248\u793e\u306e\u6ce8\u8a18<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h3><span class=\"ez-toc-section\" id=\"42910%E4%BA%BA%E3%81%AE%E5%8D%98%E8%83%8E%E5%85%90%E3%81%AE%E5%A6%8A%E5%A9%A6%E3%81%AE%E6%A4%9C%E6%9F%BB%E6%99%82\"><\/span>42,910\u4eba\u306e\u5358\u80ce\u5150\u306e\u598a\u5a66\u306e\u691c\u67fb\u6642<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<table>\n<thead>\n<tr>\n<th><\/th>\n<th>21\u756a<\/th>\n<th>18\u756a<\/th>\n<th>13\u756a<\/th>\n<th>\u6027\u67d3\u8272\u4f53<\/th>\n<th>\u5168\u67d3\u8272\u4f53<\/th>\n<th>\u6b20\u5931\u30fb\u91cd\u8907<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<th data-total=\"535\">\u967d\u6027\u6570<\/th>\n<td data-count=\"155\">155<\/td>\n<td data-count=\"44\">44<\/td>\n<td data-count=\"33\">33<\/td>\n<td data-count=\"147\">147<\/td>\n<td data-count=\"47\">47<\/td>\n<td data-count=\"109\">109<\/td>\n<\/tr>\n<tr>\n<th>\u967d\u6027\u5272\u5408<\/th>\n<td>28.97%<\/td>\n<td>8.22%<\/td>\n<td>6.17%<\/td>\n<td>27.48%<\/td>\n<td>8.79%<\/td>\n<td>20.37%<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/section>\n\n\n<section>\n<h2><span class=\"ez-toc-section\" id=\"%EF%BC%83%E8%A6%81%E7%B4%84\"><\/span>\uff03\u8981\u7d04<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>\u80cc\u666f:<\/strong> \u6bcd\u4f53\u8840\u6f3f\u4e2d\u306e\u7121\u7d30\u80deDNA(cfDNA)\u306e\u767a\u898b\u4ee5\u6765\u3001\u305d\u308c\u306f\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u305f\u3081\u306e\u65b0\u3057\u3044\u30a2\u30d7\u30ed\u30fc\u30c1\u3092\u958b\u3044\u305f\u3002 \u5168\u30b2\u30ce\u30e0\u914d\u5217\u6c7a\u5b9a\u306e\u9032\u5c55\u306b\u4f34\u3044\u3001NIPT\u306b\u3088\u3063\u3066\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3\u304c\u898b\u51fa\u3055\u308c\u305f\u3002 \u672c\u7814\u7a76\u306f\u300142,910\u4f8b\u306e\u5358\u4e00\u598a\u5a20\u306b\u304a\u3051\u308b\u7570\u6570\u6027\u304a\u3088\u3073CNV(copy number variation)\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3068\u3057\u3066\u306eNIPT\u306e\u6709\u52b9\u6027\u3092\u30ec\u30d3\u30e5\u30fc\u3059\u308b\u3053\u3068\u3067\u3042\u308b\u3002<\/p>\n<p><strong>\u65b9\u6cd5:<\/strong> \u7570\u306a\u308b\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u6709\u3059\u308b\u5408\u8a0842,910\u306e\u5358\u4e00\u598a\u5a20\u3092\u52df\u96c6\u3057\u305f\u3002 \u7121\u7d30\u80de\u80ce\u5150DNA\u3092\u76f4\u63a5\u914d\u5217\u6c7a\u5b9a\u3057\u305f\u3002 \u67d3\u8272\u4f53\u7570\u6570\u6027\u304a\u3088\u3073\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3\u306e\u5404\u3005\u3092\u5206\u6790\u3057\u305f\u3002<\/p>\n<p><strong>\u7d50\u679c:<\/strong> \u5408\u8a08534\u4f8b\u306e\u598a\u5a20(1.24%)\u304cNIPT\u306b\u3088\u3063\u3066\u691c\u51fa\u3055\u308c\u305f\u7570\u5e38\u7d50\u679c\u3067\u3042\u308a\u3001403\u4f8b\u306e\u598a\u5a20\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3092\u53d7\u3051\u3066\u3044\u305f\u3002 21\u30c8\u30ea\u30bd\u30df\u30fc(T21)\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/\">18\u30c8\u30ea\u30bd\u30df\u30fc<\/a>(T18)\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>(T13)\u3001\u6027\u67d3\u8272\u4f53\u7570\u6570\u6027(SCA)\u304a\u3088\u3073\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u306b\u5bfe\u3059\u308b\u967d\u6027\u7684\u4e2d\u7387(PPV)\u306f\u3001\u305d\u308c\u305e\u308c79.23%,54.84%,13.79%,33.04%\u304a\u3088\u30739.38%\u3067\u3042\u3063\u305f\u3002 CNV\u306ePPV\u306f28.99%\u3067\u3042\u3063\u305f\u3002 CNV\u22665 Mb\u306ePPV\u306f20.83%\u30015\uff5e10 Mb 50.00%\u3001&gt;10 Mb 27.27%\u3067\u3042\u3063\u305f\u3002 \u598a\u5a20\u7279\u6027\u306b\u3088\u308bNIPT\u306ePPV\u3082\u7570\u306a\u308b\u3002<\/p>\n<p><strong>\u7d50\u8ad6:<\/strong> \u8457\u8005\u3089\u306e\u30c7\u30fc\u30bf\u306f\u3001\u5171\u901a\u306e\u5168\u67d3\u8272\u4f53\u7570\u6570\u6027\u3060\u3051\u3067\u306a\u304fCNV\u306b\u5bfe\u3057\u3066\u3082NIPT\u30d7\u30ed\u30d5\u30a1\u30a4\u30ea\u30f3\u30b0\u306e\u6709\u7528\u6027\u3092\u5b9f\u8a3c\u3059\u308b\u4e0a\u3067\u6f5c\u5728\u7684\u306b\u91cd\u8981\u3067\u3042\u308b\u3002 \u3057\u304b\u3057\u3001\u3053\u306e\u6700\u65b0\u306e\u65b9\u6cd5\u306f\u3001CNV\u3067\u306f\u307e\u3060\u521d\u671f\u6bb5\u968e\u306b\u3042\u308b\u3002 \u81e8\u5e8a\u73fe\u5834\u3067\u6b63\u78ba\u306a\u691c\u51fa\u7387\u3068\u507d\u967d\u6027\u7387\u3092\u6301\u3064\u81e8\u5e8a\u30d0\u30ea\u30c7\u30fc\u30b7\u30e7\u30f3\u7814\u7a76\u304c\u4f9d\u7136\u3068\u3057\u3066\u5fc5\u8981\u3067\u3042\u308b\u3002<\/p>\n<p><strong>\u30ad\u30fc\u30ef\u30fc\u30c9:<\/strong>\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>)\u3001\u67d3\u8272\u4f53\u7570\u6570\u6027\u3001\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3(MMS)\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u967d\u6027\u7684\u4e2d\u7387(PPV)<\/p>\n<\/section>\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E4%B8%8A%E8%A8%98%E8%AB%96%E6%96%87%E3%81%AE%E8%80%83%E5%AF%9F\"><\/span>\u4e0a\u8a18\u8ad6\u6587\u306e\u8003\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>2019\u5e74\u306b\u767a\u8868\u3055\u308c\u305fChen\u3089\u306e\u8ad6\u6587\u306b\u3088\u308b\u306821\u756a\u30c8\u30ea\u30bd\u30df\u30fc\u306f155\/42910=1\/276\u300118\u756a\u30c8\u30ea\u30bd\u30df\u30fc\u306f44\/42910=1\/975\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u306f33\/42910=1\/1300\u306e\u5272\u5408\u3067\u751f\u3058\u3066\u3044\u308b\u3002\u901a\u5e38\u6211\u3005\u304cO\u30bb\u30c3\u30c8\u3068\u3088\u3093\u3067\u3044\u308b\u691c\u67fb\u9805\u76ee\u306b\u4e00\u81f4\u3059\u308b\u3002\u307e\u305f\u3001\u65e5\u672c\u3067NIPT\u30b3\u30f3\u30bd\u30fc\u30b7\u30a2\u30e0\u3067\u691c\u67fb\u3092\u3055\u308c\u3066\u3044\u308b\u691c\u67fb\u5185\u5bb9\u3068\u306a\u308b\u3002\u4e00\u65b9\u3001\u6027\u67d3\u8272\u4f53\u306e\u767a\u751f\u983b\u5ea6\u306f147\/42910=1\/291\u3067\u3042\u308a\u300121\u756a\u67d3\u8272\u4f53\u306e\u6b21\u306b\u767a\u751f\u7387\u304c\u9ad8\u3044\u3002\u3053\u308c\u306f\u6211\u3005\u306e\u691c\u67fb\u3067\u3042\u308c\u3070O+\u30bb\u30c3\u30c8\u307e\u305f\u306fA\u30bb\u30c3\u30c8\u3067\u691c\u51fa\u3055\u308c\u308b\u5185\u5bb9\u3067\u3042\u308b\u3002\u77e5\u80fd\u4f4e\u4e0b\u306a\u3069\u306e\u767a\u9054\u9045\u6ede\u304c\u3059\u304f\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u3001\u691c\u67fb\u3092\u3055\u308c\u3066\u3044\u306a\u3044\u304c\u3001\u983b\u5ea6\u7684\u306b\u306f\u6bd4\u8f03\u7684\u591a\u3044\u90e8\u985e\u306b\u5165\u308b\u3002\u307e\u305f\u3001\u6211\u3005\u304c\u884c\u3063\u3066\u3044\u308bD+\u30bb\u30c3\u30c8\u306b\u542b\u307e\u308c\u308b\u5168\u67d3\u8272\u4f53\u3001\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3\u306f(47+109)\/42910=1\/275\u306821\u756a\u30c8\u30ea\u30bd\u30df\u30fc\u3068\u540c\u7a0b\u5ea6\u306e\u767a\u751f\u7387\u3068\u306a\u308b\u3002\u3053\u308c\u307e\u3067\u306f1.4,5,15,22\u756a\u3068\u3044\u3046\u7279\u5b9a\u306e\u9818\u57df\u306e\u307f\u306e\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u75be\u60a3\u3092\u691c\u51fa\u3059\u308bD\u30bb\u30c3\u30c8\u306f\u3042\u307e\u308a\u767a\u751f\u3057\u306a\u304b\u3063\u305f\u304c\u3001\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3\u3068\u306a\u308b\u3068\u305d\u306e\u983b\u5ea6\u306f\u591a\u3044\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u305f\u3060\u3001\u5168\u67d3\u8272\u4f53\u306e\u7570\u6570\u6027\u308413\u756a\u67d3\u8272\u4f53\u306e\u3088\u3046\u306b\u767a\u751f\u983b\u5ea6\u304c\u3072\u304f\u3044\u3082\u306e\u306e\u967d\u6027\u7684\u4e2d\u7387\u306f\u6bd4\u8f03\u7684\u4f4e\u3044\u7269\u3068\u306a\u3063\u3066\u3057\u307e\u3046\u3002NIPT\u304c\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3042\u308b\u3068\u3044\u3046\u4f4d\u7f6e\u3065\u3051\u3067\u3042\u308c\u3070\u81f4\u3057\u65b9\u306a\u3044\u3068\u3053\u308d\u3082\u3042\u308b\u3068\u601d\u308f\u308c\u308b\u3002\u307e\u305f\u3001\u5168\u4f53\u7684\u306b\u967d\u6027\u6570\u304c\u6211\u3005\u306e\u65bd\u8a2d\u3088\u308a\u3082\u5c11\u306a\u3044\u5370\u8c61\u304c\u3042\u308b\u3002\u3053\u306e\u8ad6\u6587\u3067\u62bd\u51fa\u3055\u308c\u305f\u96c6\u56e3\u3067\u306f35\u6b73\u4ee5\u4e0a\u306e\u598a\u5a66\u306e\u5272\u5408\u304c25.03%\u3068\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u3088\u308a\u3082\u5c11\u306a\u3044\u305f\u3081\u3060\u3068\u8003\u3048\u3089\u308c\u308b\u3002\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u3067\u306f\u66f4\u306b\u6570\u304c\u591a\u3044\u5370\u8c61\u304c\u3042\u308b\u304c\u3001\u4e0a\u8a18\u306e\u967d\u6027\u983b\u5ea6\u306e\u5272\u5408\u306f\u611f\u899a\u7684\u306b\u8fd1\u3044\u3082\u306e\u304c\u3042\u308b\u3002<\/p>\n<\/section>\n\n\n<p><\/p>\n<hr>\n<p><\/p>\n\n<div class=\"author\">Yibo Chen1, Qi Yu1, Xiongying Mao1, Wei Lei2, Miaonan He3 and Wenbo Lu1*<\/div>\n\n\n\n<div class=\"lead\">\n<p>\u8457\u8005 2019 Open Access \u672c\u8a18\u4e8b\u306f\u3001\u30af\u30ea\u30a8\u30a4\u30c6\u30a3\u30d6\u30fb\u30b3\u30e2\u30f3\u30ba\u5c5e\u60274.0\u30a4\u30f3\u30bf\u30fc\u30ca\u30b7\u30e7\u30ca\u30eb\u30fb\u30e9\u30a4\u30bb\u30f3\u30b9(http:\/\/creativecommons.org\/licenses\/by\/4.0\/)\u306e\u6761\u4ef6\u306b\u57fa\u3065\u304d\u914d\u5e03\u3055\u308c\u307e\u3059\u3002\u3053\u306e\u30e9\u30a4\u30bb\u30f3\u30b9\u306f\u3001\u3044\u304b\u306a\u308b\u5a92\u4f53\u306b\u304a\u3044\u3066\u3082\u7121\u5236\u9650\u306b\u4f7f\u7528\u3001\u914d\u5e03\u304a\u3088\u3073\u8907\u88fd\u3092\u8a31\u53ef\u3059\u308b\u3082\u306e\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u30aa\u30ea\u30b8\u30ca\u30eb\u306e\u8457\u8005\u304a\u3088\u3073\u30bd\u30fc\u30b9\u306b\u9069\u5207\u306a\u30af\u30ec\u30b8\u30c3\u30c8\u3092\u4e0e\u3048\u3001\u30af\u30ea\u30a8\u30a4\u30c6\u30a3\u30d6\u30fb\u30b3\u30e2\u30f3\u30ba\u306e\u30e9\u30a4\u30bb\u30f3\u30b9\u3078\u306e\u30ea\u30f3\u30af\u3092\u63d0\u4f9b\u3057\u3001\u5909\u66f4\u304c\u884c\u308f\u308c\u305f\u304b\u3069\u3046\u304b\u3092\u793a\u3059\u3053\u3068\u3092\u6761\u4ef6\u3068\u3057\u307e\u3059\u3002 \u30af\u30ea\u30a8\u30a4\u30c6\u30a3\u30d6\u30fb\u30b3\u30e2\u30f3\u30ba\u30fb\u30d1\u30d6\u30ea\u30c3\u30af\u30fb\u30c9\u30e1\u30a4\u30f3\u5c02\u7528\u653e\u68c4(http:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/)\u306f\u3001\u7279\u306b\u65ad\u308a\u306e\u306a\u3044\u9650\u308a\u3001\u672c\u6761\u3067\u5229\u7528\u53ef\u80fd\u306a\u30c7\u30fc\u30bf\u306b\u9069\u7528\u3055\u308c\u308b\u3002<\/p><\/div>\n\n\n\n<section>\n<h2><span class=\"ez-toc-section\" id=\"%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\"><\/span>\u306f\u3058\u3081\u306b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>1997\u5e74[1]\u306b\u4e09\u7aef\u8840\u6f3f\u4e2d\u306e\u7121\u7d30\u80de\u80ce\u5150DNA(cffDNA)\u304c\u767a\u898b\u3055\u308c\u3066\u4ee5\u6765\u3001\u305d\u308c\u306f\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>)\u306e\u305f\u3081\u306e\u65b0\u3057\u3044\u30a2\u30d7\u30d7\u30ed\u30fc\u30c1\u3092\u958b\u3044\u3066\u304d\u305f\u3002 2011\u5e74\u4ee5\u964d\u3001\u80ce\u5150\u30a2\u30cd\u30a6\u2010\u500d\u6570\u4f53\u306e\u305f\u3081\u306e\u5927\u898f\u6a21\u4e26\u884c\u914d\u5217\u6c7a\u5b9a(MPS)\u304c60\u30ab\u56fd\u4ee5\u4e0a\u3067\u5229\u7528\u53ef\u80fd\u306b\u306a\u3063\u305f\u3002 \u6bcd\u4f53\u8840\u4e2d\u3092\u5faa\u74b0\u3059\u308bcfDNA\u3092\u7528\u3044\u305fNIPT\u306f\u3001\u65e9\u671f\u3001\u6b63\u78ba\u3001\u5b89\u5168\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3078\u306e\u6249\u3092\u958b\u304d\u30018\u5e74\u4ee5\u4e0a\u306b\u308f\u305f\u3063\u3066\u81e8\u5e8a\u7684\u306b\u5229\u7528\u3055\u308c\u3066\u304d\u305f[2]\u3002 21\u300118\u300113\u3001\u30e2\u30ce\u30bd\u30df\u30fcX\u3001\u304a\u3088\u3073\u305d\u306e\u4ed6\u306e\u6027\u7570\u6570\u6027\u306b\u5bfe\u3059\u308b\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u52a0\u91cd\u4f75\u5408\u691c\u51fa\u7387\u304a\u3088\u3073\u507d\u967d\u6027\u7387\u306f\u300199.2%(0.09%)\u300196.3%(0.13%)\u300191%(0.13%)\u300190.3%(0.23%)\u3001\u304a\u3088\u307393%\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b(0.14%) [3]\u3002<br>\nNIPT\u304c\u4e0d\u5fc5\u8981\u306a\u4fb5\u8972\u7684\u624b\u6280\u304a\u3088\u3073\u533b\u539f\u6027\u80ce\u5150\u55aa\u5931\u306e\u767a\u751f\u7387\u3092\u4f4e\u4e0b\u3055\u305b\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u3092\u793a\u3059\u7814\u7a76\u304c\u5897\u3048\u3066\u3044\u308b[4]\u3002 NIPT\u306f\u3001\u5f93\u6765\u306e\u751f\u5316\u5b66\u7684\u304a\u3088\u3073\u8d85\u97f3\u6ce2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3088\u308a\u3082\u591a\u304f\u306e\u4ed8\u52a0\u7684\u5229\u70b9\u3001\u4f8b\u3048\u3070\u3001\u3088\u308a\u9ad8\u3044\u611f\u5ea6\u304a\u3088\u3073\u7279\u7570\u5ea6\u3001\u306a\u3089\u3073\u306b\u3088\u308a\u65e9\u671f\u306e\u5728\u80ce\u671f\u9593\u3067NIPT\u3092\u5b9f\u65bd\u3059\u308b\u80fd\u529b\u3092\u6709\u3057\u305f\u3002 \u4e2d\u56fd\u3067\u306f\u3001\u598a\u5a20\u5f8c\u671f\u306e\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u7d50\u679c\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u60a3\u8005\u306b\u5bfe\u3057\u3066\u300121\u30c8\u30ea\u30bd\u30df\u30fc(T21)\u3001T18\u3001\u304a\u3088\u3073T13\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u305f\u3081\u306bNIPT\u3092\u518d\u958b\u3059\u308b[5]\u3002 \u73fe\u5728\u3001NIPT\u3092\u9078\u629e\u3059\u308b\u598a\u5a66\u304c\u5897\u3048\u3066\u3044\u308b[6, 7]\u3002<br>\n\u3053\u306e\u6700\u65b0\u306e\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u6cd5\u306f\u300110 Mb\u672a\u6e80\u306e\u30b3\u30d4\u30fc\u6570\u5909\u7570\u4f53(CNV)\u306b\u8d77\u56e0\u3059\u308b\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3(MMS)\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u542b\u3080\u4ed6\u306e\u5fdc\u7528\u304c\u3042\u308b\u3002 MMS\u306f\u500b\u3005\u306b\u306f\u307e\u308c\u3067\u3042\u308b\u304c\u3001\u65b0\u751f\u5150\u306e\u6027\u5668\u7570\u5e38\u306e1~2%\u3092\u5360\u3081\u3001\u5bb6\u65cf\u3084\u793e\u4f1a\u306b\u91cd\u3044\u8ca0\u62c5\u3092\u5f37\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3002 \u6700\u8fd1\u3067\u306f\u3001NIPT\u306e\u3055\u3089\u306a\u308b\u958b\u767a\u3068\u62e1\u5927\u304c\u3001Hu\u3089\u306e\u3088\u3046\u306aMMS\u306b\u7126\u70b9\u3092\u5f53\u3066\u3066\u3044\u308b\u3002 [8]\u304a\u3088\u3073Liang\u3089 [9]demon\u2010strated NIPT\u306f\u4e00\u90e8\u306eMMS\u3067\u826f\u597d\u306a\u6210\u7e3e\u3092\u793a\u3057\u305f\u3002<br>\n\u3057\u304b\u3057\u3001\u81e8\u5e8a\u8a3a\u7642\u306b\u306f\u591a\u304f\u306e\u554f\u984c\u3068\u8ab2\u984c\u304c\u3042\u308a\u3001\u6c7a\u5b9a\u3059\u308b\u305f\u3081\u306b\u306f\u5e83\u7bc4\u306a\u691c\u8a3c\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002<br>\n\u6b63\u78ba\u306a\u691c\u51fa\u7387\u3068\u507d\u967d\u6027\u7387 \u672c\u7814\u7a76\u306e\u76ee\u7684\u306f\u300142,910\u4f8b\u306e\u5358\u56de\u598a\u5a20\u306b\u304a\u3051\u308b\u7570\u6570\u6027\u304a\u3088\u3073CNV\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3068\u3057\u3066\u306eNIPT\u306e\u6709\u52b9\u6027\u3092\u30ec\u30d3\u30e5\u30fc\u3059\u308b\u3053\u3068\u3067\u3042\u308b\u3002<\/p>\n<\/section>\n\n<section>\n<h2><span class=\"ez-toc-section\" id=\"%E7%B5%90%E6%9E%9C\"><\/span>\u7d50\u679c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<h3><span class=\"ez-toc-section\" id=\"%E6%82%A3%E8%80%85%E8%83%8C%E6%99%AF\"><\/span>\u60a3\u8005\u80cc\u666f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>2015\u5e744\u6708\u304b\u30892018\u5e7412\u6708\u307e\u3067\u306b\u3001\u4e2d\u56fd\u306e\u5be7\u6ce2\u5973\u6027\u5c0f\u5150\u75c5\u9662\u304b\u3089\u5408\u8a0842,931\u306e\u6bcd\u4f53\u8840\u6db2\u8a66\u6599\u3092\u63a1\u53d6\u3057\u305f\u3002 21\u4f8b\u3067\u306f\u3001\u5931\u6557\u3057\u3001\u5931\u6557\u7387\u306f0.05%\u3067\u3042\u3063\u305f\u3002 \u5f93\u3063\u3066\u3001\u672c\u7814\u7a76\u306b\u542b\u307e\u308c\u305f\u7dcf\u6a19\u672c\u306f42,910\u3067\u3042\u3063\u305f\u3002 \u598a\u5a20\u671f\u9593\u306f12+0~26+6\u3067\u3001\u5e74\u9f62\u306f18\uff5e49\u6b73\u3067\u3001\u6bcd\u4f53\u5e74\u9f62\u304c\u9ad8\u3044(35\u6b73\u4ee5\u4e0a)\u5973\u6027\u306f10,742\u4eba\u3067\u3042\u3063\u305f\u3002 42,910\u4f8b\u306e\u81e8\u5e8a\u7684\u7279\u5fb4\u3092\u88681\u306b\u793a\u3059\u3002 \u3053\u306e42,910\u691c\u4f53\u306e\u3046\u3061\u3001\u8840\u6f3f\u4e2d\u306e\u80ce\u5150DNA\u6fc3\u5ea6\u304c\u4f4e\u3044\u305f\u3081\u306b\u518d\u30b5\u30f3\u30d7\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u306a\u598a\u5a66\u306f348\u4f8b\u3067\u3042\u308a\u3001\u518d\u30b5\u30f3\u30d7\u30ea\u30f3\u30b0\u7387\u306f0.81%(348\/42910)\u3067\u3042\u308a\u3001\u3059\u3079\u3066\u306e\u518d\u30b5\u30f3\u30d7\u30ea\u30f3\u30b0\u3067NIPT\u7d50\u679c\u304c\u5f97\u3089\u308c\u305f(\u88681)\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E5%85%A8%E5%A6%8A%E5%A8%A0%E3%81%AE%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E7%B5%90%E6%9E%9C\"><\/span>\u5168\u598a\u5a20\u306e\u51fa\u751f\u524d\u8a3a\u65ad\u7d50\u679c<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>NIPT\u524d\u306b\u3001\u598a\u5a66\u306f\u80ce\u5150\u8d85\u97f3\u6ce2\u691c\u67fb(\u30ab\u30e9\u30fc\u8d85\u97f3\u6ce2\u304a\u3088\u30733\u6b21\u5143\u30ab\u30e9\u30fc\u8d85\u97f3\u6ce2\u3092\u542b\u3080)\u304a\u3088\u3073\u6bcd\u4f53\u8840\u6e05\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u3092\u542b\u3080\u5f93\u6765\u306e\u5186\u7ba1\u5f0f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3092\u884c\u3046\u3002 \u8d85\u97f3\u6ce2\u691c\u67fb\u306f\u3001202(0.47%)\u306e\u80ce\u5150\u304c\u69cb\u9020\u7684\u306b\u7570\u5e38\u3067\u3042\u308a\u3001NT(NT\u22673mm)\u306e\u5897\u52a0\u3092\u4f34\u30465749(13.4%)\u306e\u80ce\u5150\u304c\u5b58\u5728\u3059\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u3002 \u6bcd\u4f53\u8840\u6e05\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u306e\u6e2c\u5b9a\u304b\u3089\u3001\u9ad8\u30ea\u30b9\u30af\u598a\u5a20\u306f2318\u4f8b(5.4%)\u3001\u91cd\u5927\u30ea\u30b9\u30af\u598a\u5a20\u306f15,863\u4f8b(36.97%)\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u30018024\u4f8b(18.70%)\u306e\u598a\u5a20\u3067\u306f\u81e8\u5e8a\u7684\u9069\u5fdc\u306f\u306a\u304b\u3063\u305f(\u88681)\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"T21%E3%80%81T18%E3%80%81T13%E3%80%81%E3%81%8A%E3%82%88%E3%81%B3SCA%E3%81%AENIPT%E7%B5%90%E6%9E%9C\"><\/span>T21\u3001T18\u3001T13\u3001\u304a\u3088\u3073SCA\u306eNIPT\u7d50\u679c<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u30d5\u30ed\u30fc\u30c1\u30e3\u30fc\u30c8\u3092\u56f31\u306b\u793a\u3059\u3002 \u5408\u8a0842,931\u4ef6\u306e\u6a19\u672c\u3092\u52df\u96c6\u3057\u300142,910\u4ef6\u306eNIPT\u7d50\u679c\u304c\u5f97\u3089\u308c\u305f\u3002<\/p>\n<\/section>\n\n<section class=\"note_table table_1\">\n<h3><span class=\"ez-toc-section\" id=\"%E8%A1%A81_NIPT%E3%82%92%E5%8F%97%E3%81%91%E3%81%9F%E5%A6%8A%E5%A9%A6%E3%81%AE%E8%87%A8%E5%BA%8A%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span>\u88681 NIPT\u3092\u53d7\u3051\u305f\u598a\u5a66\u306e\u81e8\u5e8a\u7684\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<table>\n<thead>\n<tr>\n<th>NIPT\u6642\u306e\u598a\u5a20\u5e74\u9f62(\u9031)<\/th>\n<th>\u756a\u53f7\/N = 42910<\/th>\n<th>\u6bd4\u7387(%)<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>12~15+6<\/td>\n<td>5535<\/td>\n<td>12.90<\/td>\n<\/tr>\n<tr>\n<td>16~19+6<\/td>\n<td>24759<\/td>\n<td>57.70<\/td>\n<\/tr>\n<tr>\n<td>20~23+6<\/td>\n<td>10513<\/td>\n<td>24.50<\/td>\n<\/tr>\n<tr>\n<td>24~26+6<\/td>\n<td>2103<\/td>\n<td>4.90<\/td>\n<\/tr>\n<\/tbody>\n<thead>\n<tr><th>\u81e8\u5e8a\u7684\u7279\u5fb4<\/th>\n<th>\u756a\u53f7<\/th>\n<th>\u6bd4\u7387(%)<\/th>\n<\/tr><\/thead>\n<tbody>\n<tr>\n<td>B-\u8d85\u97f3\u6ce2\u691c\u67fb\u306b\u3088\u308b\u80ce\u5150\u306e\u69cb\u9020\u7570\u5e38<\/td>\n<td>202<\/td>\n<td>0.47<\/td>\n<\/tr>\n<tr>\n<td>NT\u5897\u52a0<\/td>\n<td>5749<\/td>\n<td>13.4<\/td>\n<\/tr>\n<tr>\n<td>\u305d\u306e\u4ed6\u306ea<\/td>\n<td>12<\/td>\n<td>0.03<\/td>\n<\/tr>\n<tr>\n<td>\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u9ad8\u30ea\u30b9\u30af<\/td>\n<td>2318<\/td>\n<td>5.40<\/td>\n<\/tr>\n<tr>\n<td>\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u91cd\u5927\u306a\u30ea\u30b9\u30af<\/td>\n<td>15863<\/td>\n<td>36.97<\/td>\n<\/tr>\n<tr>\n<td>\u6bcd\u89aa\u306e\u5e74\u9f62\u304c\u9ad8\u3044(\u226735\u6b73)<\/td>\n<td>10742<\/td>\n<td>25.03<\/td>\n<\/tr>\n<tr>\n<td>\u81e8\u5e8a\u9069\u5fdc\u306a\u3057<\/td>\n<td>8024<\/td>\n<td>18.70<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p class=\"table_comment\">\u4ecb\u5165\u624b\u8853\u304c\u7981\u5fcc\u306e\u60a3\u8005:\u518d\u624b\u8853\u611f\u67d3\u3001\u524d\u7f6e\u80ce\u76e4\u3001\u80ce\u76e4\u51fa\u8840\u3001\u4e0d\u826f\u306a\u598a\u5a20\u6b74<\/p>\n<\/section>\n\n<section>\n<p>534\u4f8b(1.24%)\u306e\u7570\u5e38\u7d50\u679c\u3002 \u3053\u306e534\u4ef6\u306e\u3046\u3061\u300121\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u3046\u3061155(T21)\u3001T18\u306e\u3046\u306144\u3001T13\u306e\u3046\u306133\u3001\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>(SCA)\u306e\u3046\u3061147\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027(T21\u3001T18\u3001T13\u3001\u6027\u67d3\u8272\u4f53\u7570\u6570\u6027\u3092\u9664\u304f)\u306e\u3046\u306146\u3001\u304a\u3088\u3073CNV\u306e\u3046\u3061109\u3067\u3042\u3063\u305f\u3002<br>\n\u6838\u578b\u3092\u5f97\u3066\u3001NIPT\u4e88\u6e2c\u306e\u7570\u5e38\u7d50\u679c\u3092\u691c\u8a3c\u3057\u305f\u3002 T21\u3001T18\u3001T13\u3001\u304a\u3088\u3073SCA\u306e\u7dcf\u7570\u5e38\u7d50\u679c\u306f379\u3067\u3042\u3063\u305f\u3002 \u3053\u306e379\u4f8b\u306e\u3046\u3061\u3001302\u4f8b\u304c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u691c\u67fb\u3092\u53d7\u3051\u3001161\u4f8b\u306e\u771f\u967d\u6027(T21\u306e103\u4f8b\u3001T18\u306e17\u4f8b\u3001T13\u306e4\u4f8b\u3001SCA\u306e37\u4f8b)\u304a\u3088\u3073141\u4f8b\u306e\u507d\u967d\u6027(FP)\u304c\u78ba\u8a8d\u3055\u308c\u305f\u3002 \u3055\u3089\u306b\u3001\u5404\u691c\u67fb\u306e\u967d\u6027\u7684\u4e2d\u7387(PPV)\u3092\u8a55\u4fa1\u3057\u305f\u3002 21\u30c8\u30ea\u30bd\u30df\u30fc\u3067\u306f\u3001PPV\u306f79.23%\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/edwards-syndrome\/\">18\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3067\u306f54.84%\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3067\u306f13.79%\u3001SCA\u3067\u306f33.04%\u3067\u3042\u3063\u305f(\u88682\u304a\u3088\u3073\u56f31)\u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"CNV%E3%81%8A%E3%82%88%E3%81%B3%E4%BB%96%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E7%95%B0%E6%95%B0%E6%80%A7%E3%81%AENIPT%E7%B5%90%E6%9E%9C\"><\/span>CNV\u304a\u3088\u3073\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u306eNIPT\u7d50\u679c<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u3055\u3089\u306b\u3001\u672c\u6280\u8853\u306f\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u3067\u3042\u308b\u305f\u3081\u3001CNV\u304a\u3088\u3073\u4ed6\u306e\u30af\u30ed\u30e2-\u3044\u304f\u3064\u304b\u306e\u7570\u6570\u6027\u3092\u5206\u6790\u3057\u305f\u3002 CNV\u7570\u5e38\u306e\u7dcf\u75c7\u4f8b\u306f\u3001\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3042\u308b\u3002<br>\n109\u4f8b\u4e2d\u300120\u4f8b\u304c\u771f\u967d\u6027\u300149\u4f8b\u304c\u507d\u967d\u6027\u300150\u4f8b\u304c\u672a\u78ba\u8a8d\u3067\u3042\u3063\u305f\u3002 \u5404\u67d3\u8272\u4f53\u4e0a\u306eCNV\u6570\u304a\u3088\u3073\u5927\u304d\u3055\u3092\u8a55\u4fa1\u3057\u305f\u3002 CNV\u306f\u3001\u9577\u3055\u306b\u5f93\u3063\u3066\u3001CNV\u2266Mb\u30015\uff5e10 Mb\u4ee5\u5185\u306eCNV\u3001\u304a\u3088\u307310 Mb\u8d85\u306eCNV\u306e3\u7fa4\u306b\u5206\u985e\u3057\u305f\u3002 \u5404\u7fa4\u306ePPV\u3082\u8a55\u4fa1\u3057\u305f\u3002 CNV\u306e\u7dcfPPV\u306f28.99%\u3067\u3042\u3063\u305f\u3002 5 Mb\u4ee5\u4e0b\u306eCNV\u306ePPV\u306f20.83%\u30015\uff5e10 Mb\u4ee5\u4e0b\u306eCNV\u306f50.00%\u300110 Mb\u4ee5\u4e0a\u306eCNV\u306f27.27%\u3067\u3042\u308b\u3002 \u4ed6\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u306e\u7dcf\u75c7\u4f8b\u306f46\u4f8b\u3067\u30013\u4f8b\u306e\u771f\u967d\u6027\u300129\u4f8b\u306e\u507d\u967d\u6027\u3001\u304a\u3088\u307314\u4f8b\u306e\u672a\u78ba\u8a8d\u306e\u75c7\u4f8b\u3092\u542b\u3080\u3002 \u4ed6\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u306ePPV\u306f9.38%\u3067\u3042\u3063\u305f\u3002 \u4ed6\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u3067\u306f\u3001Chr7\u306e\u7570\u6570\u6027\u304c\u6700\u5927\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u3042\u308b\u3002 NIPT\u306b\u3088\u3063\u3066\u4e88\u6e2c\u3055\u308c\u308bChr7\u306e\u7570\u6570\u6027\u306f\u3059\u3079\u30667\u30c8\u30ea\u30bd\u30df\u30fc\u3067\u3042\u308b\u304c\u3001\u78ba\u8a8d\u3055\u308c\u305f\u3059\u3079\u3066\u306e\u60a3\u8005(\u7dcf\u6570\u306f9)\u304c\u507d\u967d\u6027\u3067\u3042\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u305f(\u88683\u304a\u3088\u3073\u88684)\u3002<\/p>\n\n<p>\u598a\u5a20\u7279\u6027\u306b\u3088\u308bPPV\u306e\u9055\u3044 \u598a\u5a20\u7279\u6027\u306b\u3088\u308bNIPT\u306ePPV\u306e\u9055\u3044\u3092\u88685\u306b\u793a\u3059\u3002 T21\u306e\u7dcfPPV\u306f79.23%\u3067\u3042\u308a\u3001\u6bcd\u89aa\u306e\u5e74\u9f62\u304c\u9ad8\u3044\u5973\u6027\u306eT21\u80ce\u5150\u306ePPV\u306f89.29%\u3067\u3042\u308a\u3001\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u30cf\u30a4\u30ea\u30b9\u30af\u7fa4\u3067\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306b\u306a\u308b<\/p>\n<\/section>\n\n\n<section class=\"note_table table_2\">\n<h3><span class=\"ez-toc-section\" id=\"%E8%A1%A82_%E9%9D%9E%E4%BE%B5%E8%A5%B2%E7%9A%84%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%ADNIPT%E6%9F%93%E8%89%B2%E4%BD%93%E7%95%B0%E6%95%B0%E6%80%A7%E3%81%AE%E6%80%A7%E8%83%BD\"><\/span>\u88682 \u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u8a3a\u65ad(NIPT)\u67d3\u8272\u4f53\u7570\u6570\u6027\u306e\u6027\u80fd<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<table>\n<tbody><tr><th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a><\/th><th>\u967d\u6027<\/th><th>\u771f\u967d\u6027<\/th><th>\u507d\u967d\u6027<\/th><th>PPV<\/th><\/tr>\n<tr><th>T21<\/th><td class=\"tr21\">155<\/td><td class=\"tr21\">103<\/td><td class=\"tr21\">27<\/td><td class=\"tr21\">79.23%<\/td><\/tr>\n<tr><th>T18<\/th><td class=\"tr18\">44<\/td><td class=\"tr18\">17<\/td><td class=\"tr18\">14<\/td><td class=\"tr18\">54.84%<\/td><\/tr>\n<tr><th>T13<\/th><td class=\"tr13\">33<\/td><td class=\"tr13\">4<\/td><td class=\"tr13\">25<\/td><td class=\"tr13\">13.79%<\/td><\/tr>\n<tr><th>SCA<\/th><td class=\"sca\">147<\/td><td class=\"sca\">37<\/td><td class=\"sca\">75<\/td><td class=\"sca\">33.04%<\/td><\/tr>\n<tr><th>\u4ed6\u306e<br class=\"sponly\">\u67d3\u8272\u4f53<br class=\"sponly\">\u7570\u6570\u6027<\/th><td class=\"other\">46<\/td><td class=\"other\">3<\/td><td class=\"other\">29<\/td><td class=\"other\">9.38%<\/td><\/tr>\n<tr><th>CNV<\/th><td class=\"cnv\">109<\/td><td class=\"cnv\">20<\/td><td class=\"cnv\">49<\/td><td class=\"cnv\">28.99%<\/td><\/tr>\n<tr><th>\u5408\u8a08<\/th><td class=\"total\">534<\/td><td class=\"total\">184<\/td><td class=\"total\">219<\/td><td class=\"total\">45.66%<\/td><\/tr>\n<\/tbody><\/table>\n<p class=\"table_comment\">TP\u771f\u967d\u6027\u3001FP\u507d\u967d\u6027\u3001PPV\u967d\u6027\u7684\u4e2d\u7387\u3001SCA\u6027\u67d3\u8272\u4f53\u7570\u6570\u6027\u3001CNV\u30b3\u30d4\u30fc\u6570\u5909\u7570<\/p>\n<\/section>\n\n<section>\n<p>86.67%\u3001\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u7fa4\u306e\u91cd\u5927\u306a\u30ea\u30b9\u30af\u306f71.74%\u3067\u3042\u308a\u3001NT\u7fa4\u306e\u5897\u52a0\u306b\u304a\u3051\u308bNIPT\u306ePPV\u304c\u6700\u3082\u9ad8\u304f\u3001100%\u3067\u3042\u308b\u3002 \u540c\u69d8\u306b\u3001NT\u5897\u52a0\u7fa4\u306ePPV\u306f\u3001SCA\u80ce\u5150\u306e\u4e88\u6e2c\u306b\u304a\u3044\u3066\u3082\u6700\u3082\u9ad8\u3044\u3002 \u80ce\u5150\u306eT18\u80ce\u5150\u306ePPV\u306f\u3001B-\u8d85\u97f3\u6ce2\u7fa4\u306b\u3088\u308b\u80ce\u5150\u69cb\u9020\u7570\u5e38\u3001NT\u7fa4\u306e\u5897\u52a0\u3001\u304a\u3088\u3073\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u9ad8\u30ea\u30b9\u30af\u304c\u3059\u3079\u3066100%\u3067\u3042\u308b\u306e\u306b\u5bfe\u3057\u3001\u80ce\u5150\u306eT13\u304a\u3088\u3073CNV\u306e\u4e88\u6e2c\u3067\u306f\u3001B-\u8d85\u97f3\u6ce2\u7fa4\u306b\u3088\u308b\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u7fa4\u304a\u3088\u3073\u80ce\u5150\u69cb\u9020\u7570\u5e38\u306e\u9ad8\u30ea\u30b9\u30af\u306ePPV\u304c\u305d\u308c\u305e\u308c\u6700\u3082\u9ad8\u3044\u3053\u3068\u306b\u7559\u610f\u3059\u308b\u4fa1\u5024\u304c\u3042\u308b\u3002<\/p>\n<\/section>\n\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E8%80%83%E5%AF%9F\"><\/span>\u8003\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>NIPT\u306f\u3001\u904e\u53bb\u6570\u5e74\u9593\u3067T21\u3001T18\u3001\u304a\u3088\u3073T13\u306e\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u5e83\u304f\u4f7f\u7528\u3055\u308c\u3066\u3044\u308b\u3002 \u3057\u304b\u3057\u3001\u73fe\u5728\u307e\u3067\u306e\u3068\u3053\u308d\u3001\u4e9c\u6162\u6027\u30e2\u30bd\u30fc\u30e0\u30b3\u30d4\u30fc\u6570\u5909\u7570(CNV)\u306e\u52b9\u7387\u306b\u7126\u70b9\u3092\u5f53\u3066\u305f\u5927\u898f\u6a21\u81e8\u5e8a\u8a66\u9a13\u306f\u4f9d\u7136\u3068\u3057\u3066\u5b9f\u65bd\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u5178\u578b\u7684\u306b\u306f\u30b5\u30a4\u30ba\u304c5 Mb\u672a\u6e80\u3067\u3042\u308b[8, 9]\u3002 \u305d\u308c\u306b\u52a0\u3048\u3066\u3001\u81e8\u5e8a\u6210\u7e3e\u306b\u306f\u3044\u304f\u3064\u304b\u306e\u61f8\u5ff5\u304c\u3042\u308b[10, 11]\u3002 \u3057\u305f\u304c\u3063\u3066\u300142,910\u4f8b\u3092\u542b\u3080\u672c\u7814\u7a76\u304c\u3001\u3053\u308c\u3089\u306e\u554f\u984c\u306b\u5bfe\u3059\u308b\u30c7\u30fc\u30bf\u30b5\u30dd\u30fc\u30c8\u3092\u63d0\u4f9b\u3059\u308b\u3053\u3068\u3092\u671f\u5f85\u3059\u308b\u3002<\/p>\n<\/section>\n\n\n<section class=\"note_table table_3\">\n<h3><span class=\"ez-toc-section\" id=\"%E8%A1%A83_%E5%90%84%E6%9F%93%E8%89%B2%E4%BD%93%E4%B8%8A%E3%81%AECNV%E3%81%8A%E3%82%88%E3%81%B3%E4%BB%96%E3%81%AE%E6%9F%93%E8%89%B2%E4%BD%93%E7%95%B0%E6%95%B0%E6%80%A7%E3%81%AE%E5%A4%A7%E3%81%8D%E3%81%95%E3%81%A8%E6%95%B0\"><\/span>\u88683 \u5404\u67d3\u8272\u4f53\u4e0a\u306eCNV\u304a\u3088\u3073\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u306e\u5927\u304d\u3055\u3068\u6570<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<div class=\"table-sp-scroll\">\n<table>\n\n<thead><tr><th colspan=\"2\">\u67d3\u8272\u4f53<\/th><th>1<\/th><th>2<\/th><th>3<\/th><th>4<\/th><th>5<\/th><th>6<\/th><th>7<\/th><th>8<\/th><th>9<\/th><th>10<\/th><th>11<\/th><th>12<\/th><th>13<\/th><th>14<\/th><th>15<\/th><th>16<\/th><th>17<\/th><th>18<\/th><th>19<\/th><th>20<\/th><th>21<\/th><th>22<\/th><th>XorY<\/th><th>\u5408\u8a08<\/th><\/tr>\n<\/thead>\n<tbody>\n<tr><th rowspan=\"3\">CNV<br>\u306e\u9577\u3055<\/th><th class=\"nowrap\">\u2264 5Mb<\/th><td>0<\/td><td>0<\/td><td>0<\/td><td>0<\/td><td>0<\/td><td>0<\/td><td>3<\/td><td>1<\/td><td>0<\/td><td>0<\/td><td>0<\/td><td>\/<\/td><td>2<\/td><td>0<\/td><td>2<\/td><td>2<\/td><td>3<\/td><td>4<\/td><td>\/<\/td><td>0<\/td><td>0<\/td><td>9<\/td><td>11<\/td><td>37<\/td><\/tr>\n<tr><th>5\uff5e<br>10Mb<\/th><td>0<\/td><td>0<\/td><td>0<\/td><td>1<\/td><td>1<\/td><td>1<\/td><td>1<\/td><td>1<\/td><td>0<\/td><td>0<\/td><td>0<\/td><td>\/<\/td><td>2<\/td><td>0<\/td><td>1<\/td><td>0<\/td><td>1<\/td><td>2<\/td><td>\/<\/td><td>1<\/td><td>0<\/td><td>0<\/td><td>5<\/td><td>17<\/td><\/tr>\n<tr><th class=\"nowrap\">&gt;10Mb<\/th><td>1<\/td><td>2<\/td><td>2<\/td><td>2<\/td><td>2<\/td><td>0<\/td><td>6<\/td><td>4<\/td><td>4<\/td><td>3<\/td><td>5<\/td><td>\/<\/td><td>4<\/td><td>2<\/td><td>0<\/td><td>1<\/td><td>0<\/td><td>7<\/td><td>\/<\/td><td>2<\/td><td>1<\/td><td>5<\/td><td>2<\/td><td>55<\/td><\/tr>\n<tr><th rowspan=\"4\">CNV<br>\u306e\u6570<\/th><th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a><br>\u967d\u6027<\/th><td>1<\/td><td>2<\/td><td>2<\/td><td>3<\/td><td>3<\/td><td>1<\/td><td>10<\/td><td>6<\/td><td>4<\/td><td>3<\/td><td>5<\/td><td>\/<\/td><td>8<\/td><td>2<\/td><td>3<\/td><td>3<\/td><td>4<\/td><td>13<\/td><td>\/<\/td><td>3<\/td><td>1<\/td><td>14<\/td><td>18<\/td><td>109<\/td><\/tr>\n<tr><th class=\"nowrap\">\u771f\u967d\u6027<\/th><td>1<\/td><td>0<\/td><td>0<\/td><td>1<\/td><td>0<\/td><td>0<\/td><td>1<\/td><td>0<\/td><td>0<\/td><td>0<\/td><td>1<\/td><td>\/<\/td><td>2<\/td><td>1<\/td><td>1<\/td><td>0<\/td><td>0<\/td><td>4<\/td><td>\/<\/td><td>0<\/td><td>1<\/td><td>2<\/td><td>5<\/td><td>20<\/td><\/tr>\n<tr><th class=\"nowrap\">\u507d\u967d\u6027<\/th><td>0<\/td><td>2<\/td><td>0<\/td><td>2<\/td><td>1<\/td><td>1<\/td><td>8<\/td><td>1<\/td><td>1<\/td><td>3<\/td><td>2<\/td><td>\/<\/td><td>3<\/td><td>1<\/td><td>1<\/td><td>3<\/td><td>3<\/td><td>3<\/td><td>\/<\/td><td>0<\/td><td>0<\/td><td>8<\/td><td>6<\/td><td>49<\/td><\/tr>\n<tr><th class=\"nowrap\">\u672a\u691c\u8a3c<\/th><td>0<\/td><td>0<\/td><td>2<\/td><td>0<\/td><td>2<\/td><td>0<\/td><td>1<\/td><td>5<\/td><td>3<\/td><td>0<\/td><td>2<\/td><td>\/<\/td><td>3<\/td><td>0<\/td><td>1<\/td><td>0<\/td><td>1<\/td><td>6<\/td><td>\/<\/td><td>3<\/td><td>0<\/td><td>4<\/td><td>7<\/td><td>40<\/td><\/tr>\n<tr><th rowspan=\"4\">\u4ed6\u306e<br>\u67d3\u8272\u4f53<br>\u7570\u6570\u6027<\/th><th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a><br>\u967d\u6027<\/th><td>\/<\/td><td>\/<\/td><td>2<\/td><td>1<\/td><td>1<\/td><td>\/<\/td><td>14<\/td><td>5<\/td><td>2<\/td><td>1<\/td><td>1<\/td><td>1<\/td><td>\/<\/td><td>3<\/td><td>2<\/td><td>4<\/td><td>\/<\/td><td>\/<\/td><td>\/<\/td><td>5<\/td><td><\/td><td>4<\/td><td>\/<\/td><td>46<\/td><\/tr>\n<tr><th class=\"nowrap\">\u771f\u967d\u6027<\/th><td>\/<\/td><td>\/<\/td><td>0<\/td><td>0<\/td><td>1<\/td><td>\/<\/td><td>0<\/td><td>0<\/td><td>0<\/td><td>0<\/td><td>0<\/td><td>0<\/td><td>\/<\/td><td>0<\/td><td>1<\/td><td>0<\/td><td>\/<\/td><td>\/<\/td><td>\/<\/td><td>1<\/td><td>\/<\/td><td>0<\/td><td>\/<\/td><td>3<\/td><\/tr>\n<tr><th class=\"nowrap\">\u507d\u967d\u6027<\/th><td>\/<\/td><td>\/<\/td><td>2<\/td><td>0<\/td><td>0<\/td><td>\/<\/td><td>9<\/td><td>3<\/td><td>1<\/td><td>0<\/td><td>1<\/td><td>1<\/td><td>\/<\/td><td>2<\/td><td>1<\/td><td>4<\/td><td>\/<\/td><td>\/<\/td><td>\/<\/td><td>3<\/td><td>\/<\/td><td>2<\/td><td>\/<\/td><td>29<\/td><\/tr>\n<tr><th class=\"nowrap\">\u672a\u691c\u8a3c<\/th><td>\/<\/td><td>\/<\/td><td>0<\/td><td>1<\/td><td>0<\/td><td>\/<\/td><td>5<\/td><td>2<\/td><td>1<\/td><td>1<\/td><td>0<\/td><td>0<\/td><td>\/<\/td><td>1<\/td><td>0<\/td><td>0<\/td><td>\/<\/td><td>\/<\/td><td>\/<\/td><td>1<\/td><td>\/<\/td><td>2<\/td><td>0<\/td><td>14<\/td><\/tr>\n<\/tbody>\n<\/table>\n<p class=\"can_slide\">\u6a2a\u306b\u30b9\u30e9\u30a4\u30c9\u3067\u304d\u307e\u3059<\/p>\n<\/div>\n<\/section>\n\n\n<section class=\"note_table table_4\">\n<h3><span class=\"ez-toc-section\" id=\"%E8%A1%A84_CNV%E3%82%B5%E3%82%A4%E3%82%BA%E3%81%AB%E5%BF%9C%E3%81%98%E3%81%9FPPV\"><\/span>\u88684 CNV\u30b5\u30a4\u30ba\u306b\u5fdc\u3058\u305fPPV<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<table>\n<tbody><tr><th>CNV\u306e\u5927\u304d\u3055<\/th><td>\u22645Mb<\/td><td>5\uff5e10Mb<\/td><td>&gt;10Mb<\/td><td>\u5408\u8a08<\/td><\/tr>\n<tr><th>NIP\u967d\u6027<\/th><td>37<\/td><td>17<\/td><td>55<\/td><td>109<\/td><\/tr>\n<tr><th>\u771f\u967d\u6027<\/th><td>5<\/td><td>6<\/td><td>9<\/td><td>20<\/td><\/tr>\n<tr><th>\u507d\u967d\u6027<\/th><td>19<\/td><td>6<\/td><td>24<\/td><td>49<\/td><\/tr>\n<tr><th>\u672a\u691c\u8a3c<\/th><td>13<\/td><td>5<\/td><td>22<\/td><td>40<\/td><\/tr>\n<tr><th>PPV (%)<\/th><td>20.83<\/td><td>50.00<\/td><td>27.27<\/td><td>28.99<\/td><\/tr>\n<\/tbody><\/table>\n\n<\/section>\n\n<section>\n<p>\u672c\u7814\u7a76\u3067\u306f\u3001\u967d\u6027\u7684\u4e2d\u7387(PPV)\u3092\u7528\u3044\u3066NIPT\u3092\u8a55\u4fa1\u3057\u305f\u3002 T21\u306ePPV\u306f79.23%\u3001T18\u3001T13\u306f54.84%\u300113.79%\u300133.04%\u3067\u3042\u3063\u305f\u3002 \u3055\u3089\u306b\u3001\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u304a\u3088\u3073CNV\u306ePPV\u3082\u5206\u6790\u3057\u305f\u3002 \u4ed6\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u306ePPV\u306f9.38%\u3001CNV\u306f28.99%\u3067\u3042\u3063\u305f\u3002 \u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u3001T21\u306ePPV\u7bc4\u56f2\u306f65\uff5e94%\u3001T18\u306f47\uff5e85%\u3001T13\u306f12\uff5e62%\u3067\u3042\u3063\u305f[12\uff5e14]\u3002 \u3053\u306e\u7bc4\u56f2\u306b\u5165\u308b\u3002 \u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001CNV\u306ePPV\u306f28.99%\u3067\u3042\u308a\u3001T13\u3088\u308a\u660e\u3089\u304b\u306b\u9ad8\u304b\u3063\u305f\u3002 \u3053\u308c\u307e\u3067\u306e\u81e8\u5e8a\u30d0\u30ea\u30c7\u30fc\u30b7\u30e7\u30f3\u7814\u7a76\u3067\u306f\u3001\u7279\u7570\u7684\u306aMMS\u306e\u691c\u51fa\u6210\u7e3e\u306b\u306f\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u3001\u967d\u6027\u7684\u4e2d\u7387(PPV)\u306f\u308f\u305a\u304b\u306b\u4f4e~\u4e2d\u7b49\u5ea6\u3067\u3042\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u308b[9]\u3002<br>\n\u6700\u8fd1\u3067\u306f\u3001\u3088\u308a\u7de9\u548c\u3055\u308c\u305f\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u304c\u63d0\u5531\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u306b\u3088\u308a\u3001\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u304c\u7570\u6570\u6027\u3088\u308a\u3082\u983b\u5ea6\u304c\u9ad8\u3044\u82e5\u5e74\u5973\u6027\u306b\u5bfe\u3057\u3066MMS\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u30eb\u30fc\u30c1\u30f3\u306b\u5b9f\u65bd\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u308b[15]\u3002 42,000\u4f8b\u3092\u8d85\u3048\u308b\u598a\u5a20\u3092\u5bfe\u8c61\u3068\u3057\u305f\u3053\u306e\u5f8c\u308d\u5411\u304d\u7814\u7a76\u306e\u6210\u7e3e\u306b\u57fa\u3065\u304f\u3068\u3001NIPT\u306f\u3001\u4e2d\u67a2\u795e\u7d4c\u7cfb\u306b\u8d77\u56e0\u3059\u308bMMS\u306b\u9069\u3057\u305f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u6cd5\u306e\u7279\u5fb4\u3092\u793a\u3057\u3066\u3044\u308b\u3002 \u672c\u7814\u7a76\u3067\u306f\u30015\uff5e10 Mb\u4ee5\u5185\u306eCNV\u306b\u5bfe\u3059\u308bPPV\u304c\u6700\u3082\u9ad8\u304f(50.00%)\u30015 Mb\u4ee5\u4e0b\u306eCNV\u306b\u5bfe\u3059\u308bPPV\u304c\u6700\u3082\u4f4e\u304b\u3063\u305f(20.83%)\u3002 Liang\u306e\u8ad6\u6587(\u53c2\u8003\u6587\u732e) [9]\u3001CNVs&gt;10 Mb(32%)\u304a\u3088\u3073CNVs&lt;10 Mb(19%)\u306ePPV\u3082\u4f4e\u304b\u3063\u305f\u304c\u3001\u59a5\u5f53\u3067\u3042\u308a\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u80ce\u5150CNVs\u306e\u6f5c\u5728\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u305f\u3081\u306e\u691c\u67fb\u306e\u5341\u5206\u306a\u611f\u5ea6\u304a\u3088\u3073\u7279\u7570\u6027\u304c\u53ef\u80fd\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u308b\u3002 PPV\u306f\u3001\u691c\u67fb\u306e\u611f\u5ea6\u304a\u3088\u3073\u7279\u7570\u5ea6\u3060\u3051\u3067\u306a\u304f\u3001\u75be\u60a3\u306e\u6709\u75c5\u7387\u306b\u3082\u5de6\u53f3\u3055\u308c\u308b[16]\u3002 10 Mb\u672a\u6e80\u306eCNV\u306ePPV\u306f\u3001\u672c\u8a66\u9a13\u3067\u306f31%\u3067\u3042\u308b(\u30c7\u30fc\u30bf\u306f\u8868\u306b\u793a\u3055\u308c\u3066\u3044\u306a\u3044\u3001PPV = (5 + 6)\/[(5 +)]\u3002<\/p>\n\f\n<p>6)+19+6)]\u6881\u5149\u70c8\u306e\u8ad6\u6587\u3088\u308a\u306f\u308b\u304b\u306b\u9ad8\u3044\u3002 \u3055\u3089\u306b\u3001\u4ee5\u524d\u306e\u7814\u7a76\u3067\u306f\u3001CNV\u306e\u5168PPV\u306f9.2%[17]\u3067\u3042\u308a\u3001\u672c\u7814\u7a76\u306ePPV\u306f\u305d\u308c\u3088\u308a\u3082\u306f\u308b\u304b\u306b\u9ad8\u3044\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u305f\u3002<br>\n\u4ed6\u306e\u67d3\u8272\u4f53\u7570\u6570\u6027\u306ePPV\u306f9.38%\u3067\u4f4e\u304f\u3001Liang\u306e\u8ad6\u6587\u3067\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3082\u306e\u3068\u540c\u69d8\u3067\u3042\u3063\u305f(\u53c2\u8003\u6587\u732e)\u3002 [9]). \u305d\u306e\u7406\u7531\u306f\u3001\u3053\u308c\u3089\u306eaneu\u2010\u500d\u6570\u4f53\u306f\u3042\u307e\u308a\u591a\u304f\u306a\u304f\u3001\u305d\u308c\u3089\u306e\u591a\u304f\u306f\u9650\u5c40\u6027\u80ce\u76e4<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u73fe\u8c61(CPM)\u7387\u304c\u9ad8\u3044\u304b\u3089\u3067\u3042\u308b\u3002 NIPT\u306f\u7121\u7d30\u80de\u80ce\u5150DNA\u3092\u7528\u3044\u3066\u884c\u308f\u308c\u3001\u6bcd\u4f53\u5faa\u74b0\u306b\u304a\u3051\u308b\u7d30\u80de\u2010\u80ce\u5150DNA\u306e\u7b2c\u4e00\u4f9b\u7d66\u6e90\u306f\u3001\u5fc5\u305a\u3057\u3082\u80ce\u5150\u3092\u4ee3\u8868\u3059\u308b\u3068\u306f\u9650\u3089\u306a\u3044\u7d30\u80de\u2010\u6804\u990a\u82bd\u7d30\u80de[18]\u304b\u3089\u306e\u80ce\u76e4\u7d30\u80de\u306e\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002 \u80ce\u76e4\u306e\u307f\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u304c\u8a8d\u3081\u3089\u308c\u308b\u304c\u3001\u80ce\u5150\u306b\u306f\u8a8d\u3081\u3089\u308c\u306a\u3044\u72b6\u6cc1\u306fCPM [19] \u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u767a\u751f\u7387\u306e\u89b3\u5bdf\u5024\u306f\u7d041~2%\u3067\u3042\u308b[20]\u3002 NIPT\u306f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3042\u308b\u3002 NIPT\u306e\u305f\u3081\u306e\u4e8b\u524d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306e\u305f\u3081\u306b\u3001\u9078\u629e\u3057\u305f\u5973\u6027\u306f\u3001\u6b63\u78ba\u6027\u3001\u4fe1\u983c\u6027\u3001\u507d\u967d\u6027\u3001\u304a\u3088\u3073\u507d\u9670\u6027\u7387\u306b\u3064\u3044\u3066\u5341\u5206\u306b\u77e5\u3089\u3055\u308c\u308b\u3079\u304d\u3067\u3042\u308b\u3002 \u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u5f8c\u306b\u306f\u3001\u73fe\u5728\u306eNIPT\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u95a2\u3057\u3066\u3001\u3059\u3079\u3066\u306e\u967d\u6027\u6240\u898b\u306b\u3064\u3044\u3066\u4fb5\u8972\u7684\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306b\u3088\u3063\u3066\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u5f37\u304f\u63a8\u5968\u3055\u308c\u308b[21]\u3002 \u3055\u3089\u306b\u3001\u75c5\u539f\u6027\u307e\u305f\u306f\u75c5\u539f\u6027\u306e\u53ef\u80fd\u6027\u306e\u3042\u308b\u80ce\u5150<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u304c\u78ba\u8a8d\u3055\u308c\u305f\u3068\u7591\u308f\u308c\u308b\u80ce\u5150\u3092\u4fdd\u56e0\u3057\u3066\u3044\u305f\u3059\u3079\u3066\u306e\u5973\u6027\u304c\u3001\u598a\u5a20\u7ba1\u7406\u306e\u9078\u629e\u80a2\u306b\u3064\u3044\u3066\u8a71\u3057\u5408\u3046\u305f\u3081\u306b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u30bb\u30c3\u30b7\u30e7\u30f3\u3092\u53d7\u3051\u308b\u4e88\u5b9a\u3067\u3042\u3063\u305f\u3002<br>\n\u307e\u305f\u3001\u598a\u5a20\u7279\u6027\u306b\u5fdc\u3058\u305fNIPT\u306e\u7570\u306a\u308bPPV\u306b\u3064\u3044\u3066\u3055\u3089\u306b\u691c\u8a0e\u3092\u91cd\u306d\u3066\u304d\u305f\u304c\u3001\u672c\u30bb\u30af\u30b7\u30e7\u30f3\u306e\u7d50\u679c\u306b\u306f\u3001\u3088\u308a\u591a\u304f\u306e\u81e8\u5e8a\u30c7\u30fc\u30bf\u306e\u88cf\u4ed8\u3051\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002 \u7570\u306a\u308b\u598a\u5a20\u7279\u6027\u306f\u7570\u306a\u308bPPV\u3092\u793a\u3057\u3001NIPT\u306ePPV\u306fT21\u3067\u6700\u3082\u9ad8\u304f\u3001\u4ed6\u306e\u7570\u6570\u6027\u3067\u306f\u305a\u3063\u3068\u4f4e\u3044[22]\u3002 \u598a\u7523\u5a66\u306e\u5e74\u9f62\u304c\u9ad8\u3044(\u901a\u5e3835\u6b73\u4ee5\u4e0a)\u3053\u3068\u306f\u3001T21\u306e\u5371\u967a\u56e0\u5b50\u3067\u3042\u308b\u3002 \u3057\u305f\u304c\u3063\u3066\u3001\u6bcd\u89aa\u306e\u9ad8\u9f62\u671f\u306b\u304a\u3051\u308bPPV\u306f\u3001\u81e8\u5e8a\u9069\u5fdc\u306e\u306a\u3044\u30b0\u30eb\u30fc\u30d7\u3088\u308a\u3082\u306f\u308b\u304b\u306b\u9ad8\u3044\u3002 \u307e\u305f\u3001\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u7fa4\u306e\u9ad8\u30ea\u30b9\u30af\u306ePPV\u306f\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30b9\u30af\u7fa4\u3088\u308a\u3082\u9ad8\u304f\u3001\u3053\u308c\u306fYu\u306e\u8ad6\u6587[23]\u3068\u4e00\u81f4\u3057\u3066\u3044\u308b\u3002<\/p>\n<\/section>\n\n\n<section class=\"note_table table_5\">\n<h3><span class=\"ez-toc-section\" id=\"%E8%A1%A85_%E5%A6%8A%E5%A8%A0%E7%89%B9%E6%80%A7%E3%81%AB%E5%BF%9C%E3%81%98%E3%81%A6%E7%95%B0%E3%81%AA%E3%82%8BPPV\"><\/span>\u88685 \u598a\u5a20\u7279\u6027\u306b\u5fdc\u3058\u3066\u7570\u306a\u308bPPV<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<table>\n<thead>\n<tr>\n<th colspan=\"6\">\u81e8\u5e8a\u7684\u7279\u5fb4<\/th>\n<\/tr>\n<tr>\n<th>T21 PPV (%)<\/th>\n<th>T18 PPV (%)<\/th>\n<th>T13 PPV (%)<\/th>\n<th>SCAPPV (%)<\/th>\n<th>\u4ed6\u306e\u67d3\u8272\u4f53<br class=\"sponly\">\u7570\u6570\u6027 PPV (%)<\/th>\n<th>CNV PPV (%)<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td colspan=\"6\">B-\u8d85\u97f3\u6ce2\u691c\u67fb\u306b\u3088\u308b\u80ce\u5150\u306e\u69cb\u9020\u7570\u5e38<\/td>\n<\/tr>\n<tr>\n<td>0<\/td>\n<td>100<\/td>\n<td>0<\/td>\n<td>0<\/td>\n<td>0<\/td>\n<td>100.00<\/td>\n<\/tr>\n<tr>\n<td colspan=\"6\">NT\u5897\u52a0<\/td>\n<\/tr>\n<tr>\n<td>100<\/td>\n<td>100<\/td>\n<td>\/<\/td>\n<td>50.00<\/td>\n<td>0<\/td>\n<td>37.50<\/td>\n<\/tr>\n<tr>\n<td colspan=\"6\">\u305d\u306e\u4ed6\u306ea<\/td>\n<\/tr>\n<tr>\n<td>\/<\/td>\n<td>\/<\/td>\n<td>\/<\/td>\n<td>\/<\/td>\n<td>\/<\/td>\n<td>0.00<\/td>\n<\/tr>\n<tr>\n<td colspan=\"6\">\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u9ad8\u30ea\u30b9\u30af<\/td>\n<\/tr>\n<tr>\n<td>86.67<\/td>\n<td>100<\/td>\n<td>100<\/td>\n<td>28.57<\/td>\n<td>12.50<\/td>\n<td>11.11<\/td>\n<\/tr>\n<tr>\n<td colspan=\"6\">\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u91cd\u5927\u306a\u30ea\u30b9\u30af<\/td>\n<\/tr>\n<tr>\n<td>71.74<\/td>\n<td>33.33<\/td>\n<td>9.09<\/td>\n<td>28.57<\/td>\n<td>0<\/td>\n<td>50.00<\/td>\n<\/tr>\n<tr>\n<td colspan=\"6\">\u6bcd\u89aa\u306e\u9ad8\u9f62(\u226735\u6b73)<\/td>\n<\/tr>\n<tr>\n<td>89.29<\/td>\n<td>60.00<\/td>\n<td>9.09<\/td>\n<td>30.77<\/td>\n<td>15.38<\/td>\n<td>5.26<\/td>\n<\/tr>\n<tr>\n<td colspan=\"6\">\u81e8\u5e8a\u9069\u5fdc\u306a\u3057<\/td>\n<\/tr>\n<tr>\n<td>33.33<\/td>\n<td>0<\/td>\n<td>25.00<\/td>\n<td>35.71<\/td>\n<td>0<\/td>\n<td>41.67<\/td>\n<\/tr>\n<tr>\n<td colspan=\"6\">\u5408\u8a08<\/td>\n<\/tr>\n<tr>\n<td>79.23<\/td>\n<td>54.84<\/td>\n<td>13.79<\/td>\n<td>33.04<\/td>\n<td>9.09<\/td>\n<td>28.99<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p class=\"table_comment\">\u300c\/\u300d\u306f\u30c7\u30fc\u30bf\u306a\u3057<br>\n\u4ecb\u5165\u624b\u8853\u304c\u7981\u5fcc\u306e\u60a3\u8005:\u518d\u624b\u8853\u611f\u67d3\u3001\u524d\u7f6e\u80ce\u76e4\u3001\u80ce\u76e4\u51fa\u8840\u3001\u4e0d\u826f\u306a\u598a\u5a20\u6b74\u3002<\/p>\n<\/section>\n\n\n<section>\n<p>\u4e00\u65b9\u3001\u6bcd\u89aa\u306e\u9ad8\u9f62\u306fT18\u304a\u3088\u3073T13\u306e\u30ea\u30b9\u30af\u6307\u6a19\u3067\u306f\u306a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002 \u540c\u69d8\u306b\u3001\u7570\u6570\u6027\u3068\u306f\u7570\u306a\u308a\u3001\u6700\u3082\u4e00\u822c\u7684\u306aCNV\u306f\u6bcd\u89aa\u306e\u5e74\u9f62\u3068\u95a2\u4fc2\u304c\u306a\u3044\u305f\u3081\u3001\u6bcd\u89aa\u306e\u5e74\u9f62\u304c\u9ad8\u3044\u5834\u5408\u306ePPV\u306f\u9ad8\u3044\u5024\u3092\u793a\u3055\u306a\u3044\u3002<br>\nCNV\u306f\u3001\u69cb\u9020\u7684\u306b\u6b63\u5e38\u306a\u598a\u5a20\u306e\u7d041.7%\u306b\u5b58\u5728\u3059\u308b\u30d2\u30c8\u75be\u60a3\u306e\u91cd\u8981\u306a\u5bc4\u4e0e\u56e0\u5b50\u3068\u3057\u3066\u307e\u3059\u307e\u3059\u8a8d\u8b58\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u3066\u3044\u308b[24]\u3002 \u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u5206\u6790(CMA)\u306f\u3001\u76ee\u306b\u898b\u3048\u306a\u3044\u5c0f\u3055\u306a\u67d3\u8272\u4f53\u6b20\u5931\u307e\u305f\u306f\u91cd\u8907\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u5f37\u529b\u306a\u30c4\u30fc\u30eb\u3067\u3042\u308a\u3001\u660e\u78ba\u306b\u5b9a\u7fa9\u3055\u308c\u305f\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\u306ePa-thient\u306b\u5bfe\u3059\u308b\u7b2c\u4e00\u6bb5\u968e\u306e\u8a3a\u65ad\u30c4\u30fc\u30eb\u3068\u3057\u3066\u63a8\u5968\u3055\u308c\u3066\u3044\u308b[26, 27]\u3002 \u3057\u304b\u3057\u3001CMA\u306b\u306f\u591a\u304f\u306e\u9650\u754c\u304c\u3042\u308b\u3002 CMA\u306e\u30b5\u30f3\u30d7\u30ea\u30f3\u30b0\u306b\u306f\u4fb5\u8972\u7684\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3042\u308a\u3001\u4fb5\u8972\u7684\u691c\u67fb\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u3001\u5b50\u5bae\u5185\u611f\u67d3\u306a\u3069\u306e\u30ea\u30b9\u30af\u3068\u95a2\u9023\u3057\u3066\u3044\u308b[28][29]\u3001\u307e\u305f\u306f\u610f\u7fa9\u4e0d\u660e\u306e\u5909\u7570\u4f53\u3092\u540c\u5b9a\u3067\u304d\u308b\u305f\u3081\u3001\u4e00\u90e8\u306e\u5973\u6027\u3067\u306f\u305d\u308c\u3092\u65ad\u308b\u3053\u3068\u304c\u3042\u308b\u3002 NIPT\u304c\u4e9c\u6162\u6027\u30e2\u30bd\u30fc\u30e0\u30b3\u30d4\u30fc\u6570\u5909\u7570\u4f53(CNV)\u3092\u691c\u51fa\u3057\u305f\u3053\u3068\u306f\u3001\u3044\u304f\u3064\u304b\u306eMMS[30]\u3067\u306f\u826f\u597d\u306a\u6210\u7e3e\u3092\u793a\u3057\u3066\u304a\u308a\u3001\u8fd1\u5e74\u3001MMS\u306e\u305f\u3081\u306b\u62e1\u5f35\u3057\u305fNIPT\u3067\u306f\u304b\u306a\u308a\u306e\u6570\u306e\u518d\u30dd\u30fc\u30c8\u304c\u5b58\u5728\u3057\u3066\u3044\u308b[8,9,31]\u3002 \u3057\u304b\u3057\u3001NIPT\u306f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3042\u308a\u3001\u305d\u306e\u6b63\u78ba\u306a\u691c\u51fa\u7387\u304a\u3088\u3073\u591a\u6570\u306e\u81e8\u5e8a\u691c\u4f53\u306e\u507d\u967d\u6027\u7387\u306b\u95a2\u3057\u3066\u3001\u4f9d\u7136\u3068\u3057\u3066\u81e8\u5e8a\u7684\u306b\u59a5\u5f53\u306a\u691c\u67fb\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002<br>\n\u672c\u7814\u7a76\u3067\u306f\u3001\u8ffd\u8de1\u8abf\u67fb\u306f\u9670\u6027\u7d50\u679c\u3067\u3042\u308b\u3002 \u4e2d\u83ef\u4eba\u6c11\u5171\u548c\u56fd\u5065\u5eb7\u59d4\u54e1\u4f1a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u3088\u308c\u3070\u3001\u51fa\u7523\u5f8c12\u9031\u76ee\u306b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u958b\u59cb\u3055\u308c\u305f\u3002 \u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u5185\u5bb9\u306b\u306f\u3001\u88ab\u9a13\u8005\u306e\u598a\u5a20\u8ee2\u5e30\u304a\u3088\u3073\u65b0\u751f\u5150\u306e\u5065\u5eb7\u3092\u542b\u3081\u308b\u3079\u304d\u3067\u3042\u308b\u3002 \u65b0\u751f\u5150\u306e\u4e3b\u306a\u7d4c\u904e\u89b3\u5bdf\u5185\u5bb9\u306f\u3001\u65b0\u751f\u5150\u304cT21\u304bT18\u304bT13\u304b\u306e\u3069\u3061\u3089\u306e\u60a3\u8005\u3067\u3042\u308b\u304b\u3067\u3042\u308b\u3002 \u8457\u8005\u3089\u306e\u8ffd\u8de1\u8abf\u67fb\u306f\u751f\u5f8c3\u304b\u6708\u304b\u3089\u958b\u59cb\u3057\u3001\u672c\u7814\u7a76\u306e\u56fd\u5bb6\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u53b3\u5bc6\u306b\u5f93\u3063\u305f\u3002 \u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u6642\u306b\u3001\u5148\u5929\u7570\u5e38\u306e\u3042\u308b\u65b0\u751f\u5150\u3092\u8a34\u3048\u305f\u4e21\u89aa\u306f\u3001\u3055\u3089\u306a\u308b\u907a\u4f1d\u5b66\u7684\u8a3a\u65ad\u3092\u53d7\u3051\u308b\u3079\u304d\u3067\u3042\u308b\u3002 \u3055\u3089\u306b\u3001CNV\u306b\u3064\u3044\u3066\u306f\u3001\u967d\u6027\u7d50\u679c\u3092\u8003\u5bdf\u3057\u305f\u304c\u3001\u672c\u7814\u7a76\u304c\u7570\u6570\u6027\u304a\u3088\u3073CNV\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u8a66\u9a13\u3068\u3057\u3066NIPT\u306e\u59a5\u5f53\u6027\u3092\u63d0\u4f9b\u3067\u304d\u308b\u3053\u3068\u3092\u671f\u5f85\u3059\u308b\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96\"><\/span>\u7d50\u8ad6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u7d50\u8ad6\u3068\u3057\u3066\u3001\u672c\u7814\u7a76\u306f\u3001\u7570\u306a\u308b\u81e8\u5e8a\u7279\u6027\u3092\u6301\u3064\u598a\u5a66\u306e\u5927\u898f\u6a21\u306a\u524d\u5411\u304d\u30b0\u30eb\u30fc\u30d7\u3092\u542b\u3093\u3060\u3002 \u3053\u306e\u30c7\u30fc\u30bf\u306f\u3001\u4e00\u822c\u7684\u306a\u5168\u67d3\u8272\u4f53\u7570\u6570\u6027\u3060\u3051\u3067\u306a\u304fCNV\u306b\u3064\u3044\u3066\u3082NIPT\u30d7\u30ed\u30d5\u30a1\u30a4\u30ea\u30f3\u30b0\u306e\u4f7f\u7528\u306e\u6709\u7528\u6027\u3092\u5b9f\u8a3c\u3059\u308b\u4e0a\u3067\u6f5c\u5728\u7684\u306b\u91cd\u8981\u3067\u3042\u308b\u3002  \u3057\u304b\u3057\u3001\u3053\u306e\u6700\u65b0\u306e\u65b9\u6cd5\u306f\u3001CNV\u3067\u306f\u307e\u3060\u521d\u671f\u6bb5\u968e\u306b\u3042\u308b\u3002 \u81e8\u5e8a\u73fe\u5834\u3067\u306f\u3001\u6b63\u78ba\u306a\u9664\u83cc\u7387\u3068\u507d\u967d\u6027\u7387\u3092\u7528\u3044\u305f\u81e8\u5e8a\u30d0\u30ea\u30c7\u30fc\u30b7\u30e7\u30f3\u8a66\u9a13\u304c\u4f9d\u7136\u3068\u3057\u3066\u5fc5\u8981\u3067\u3042\u308b\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E6%9D%90%E6%96%99%E3%81%8A%E3%82%88%E3%81%B3%E6%96%B9%E6%B3%95\"><\/span>\u6750\u6599\u304a\u3088\u3073\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<h4>\u60a3\u8005<\/h4>\n<p>\u598a\u5a66\u3092\u9023\u7d9a\u7684\u306b\u63a1\u53d6\u3057\u305f\u3002 2015\u5e744\u6708\u304b\u30892018\u5e7412\u6708\u307e\u3067\u306e\u598a\u5a66<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u305f\u3081\u306b\u5be7\u6ce2\u5973\u6027\u5c0f\u5150\u75c5\u9662\u306b\u6765\u9662\u3057\u305f\u3002 \u8a0842,910\u4eba\u306e\u30d7\u30ec\u30b0\u30ca\u30f3\u30c8\u5973\u6027\u304c\u52df\u96c6\u3055\u308c\u305f\u3002 \u63a1\u8840\u524d\u306b\u3001\u5404\u53c2\u52a0\u8005\u304b\u3089\u7f72\u540d\u5165\u308a\u540c\u610f\u66f8\u3092\u5165\u624b\u3057\u305f\u3002 \u9078\u629e\u57fa\u6e96\u306f\u3001(1)12+0~26+6\u9593\u306e\u598a\u5a20\u671f\u9593\u3001(2)\u5358\u4e00\u598a\u5a20\u3001\u304a\u3088\u3073(3)\u30dc\u30c7\u30a3\u30de\u30b9\u30a4\u30f3\u30c7\u30c3\u30af\u30b9(BMI)&lt;100\u3067\u3042\u3063\u305f\u3002 \u9664\u5916\u57fa\u6e96\u306f\u3001(1)<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u307e\u305f\u306f\u7570\u5e38\u306e\u3042\u308b\u598a\u5a66\u3001(2)\u591a\u80ce\u598a\u5a20\u3001(3)\u5e79\u7d30\u80de\u7642\u6cd5\u304a\u3088\u3073\u79fb\u690d\u624b\u8853\u3092\u53d7\u3051\u305f\u598a\u5a66\u3001(4)1\u5e74\u4ee5\u5185\u306b\u540c\u7a2e\u8840\u6db2\u88fd\u5264\u3092\u6295\u4e0e\u3055\u308c\u3001(5)4\u9031\u9593\u4ee5\u5185\u306b\u514d\u75ab\u7642\u6cd5\u3092\u53d7\u3051\u305f\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E8%A1%80%E6%B8%85%E5%AD%A6%E7%9A%84%E3%82%B9%E3%82%AF%E3%83%AA%E3%83%BC%E3%83%8B%E3%83%B3%E3%82%B0%E3%81%8A%E3%82%88%E3%81%B3%E8%B6%85%E9%9F%B3%E6%B3%A2%E6%A4%9C%E6%9F%BB\"><\/span>\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304a\u3088\u3073\u8d85\u97f3\u6ce2\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>11\u9031\u304b\u308913\u9031+6\u307e\u3067\u306e\u598a\u5a20\u521d\u671f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u7528\u3044\u3001\u8840\u6e05\u5b66\u7684\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u8a66\u9a13\u3092\u691c\u51fa\u3057\u305f:AFP\u3001\u904a\u96e2bHCG\u3001\u304a\u3088\u3073\u904a\u96e2E3\u306e\u6fc3\u5ea6\u3092\u6642\u9593\u5206\u89e3\u514d\u75ab\u86cd\u5149\u30a2\u30c3\u30bb\u30a4\u306b\u3088\u308a\u691c\u51fa\u3057\u305f\u3002 NT\u306f\u3001\u80ce\u5150\u533b\u5b66\u8ca1\u56e3\u30d7\u30ed\u30c8\u30b3\u30eb[32]\u306b\u5f93\u3063\u3066\u8a13\u7df4\u3055\u308c\u305f\u8d85\u97f3\u6ce2\u691c\u67fb\u58eb\u306b\u3088\u3063\u3066\u6e2c\u5b9a\u3055\u308c\u305f\u3002 \u30ea\u30b9\u30af\u5024\u306f\u3001\u30e9\u30a4\u30d5\u30b5\u30a4\u30af\u30eb\u30bd\u30d5\u30c8\u30a6\u30a8\u30a2(4.0)\u306b\u3088\u308a\u7b97\u51fa\u3057\u305f:\u9ad8\u30ea\u30b9\u30af\u3001T21&gt;1\/300\u3001T18&gt;1\/350;\u4e2d\u9593\u30ea\u30b9\u30af\u3001T21 1\/300~1\/1000\u3001T18 1\/350~1\/1000;\u6bcd\u4f53\u5e74\u9f62(AMA)\u3001\u6bcd\u4f53\u5e74\u9f62\u226735\u6b73[23];\u304a\u3088\u3073NT\u22673mm\u3092NT[33]\u5897\u52a0\u3068\u5b9a\u7fa9\u3057\u305f\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E9%85%8D%E5%88%97%E6%B1%BA%E5%AE%9A\"><\/span>\u914d\u5217\u6c7a\u5b9a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u6bcd\u4f53\u672b\u68a2\u8840(5ml)\u3092\u3001\u598a\u5a20\u9031\u9f6212+0\uff5e26+6\u9031\u306e\u30a8\u30c1\u30eb\u2010\u30a8\u30f3\u30b8\u30a2\u30df\u30f3\u56db\u9162\u9178(EDTA)\u7ba1\u306b\u63a1\u53d6\u3057\u305f\u3002 \u63a1\u8840\u76f4\u5f8c\u306b4 \u2103\u3067\u4fdd\u5b58\u3057\u305f\u3002 \u8840\u6f3f\u3092\u3001\u524d\u8ff0\u306e\u8a18\u8f09(\u53c2\u8003\u6587\u732e)\u306b\u5f93\u3063\u30662\u6bb5\u968e\u9060\u5fc3\u5206\u96e2\u30d7\u30ed\u30c8\u30b3\u30fc\u30eb\u3092\u7528\u3044\u30668\u6642\u9593\u4ee5\u5185\u306b\u5358\u96e2\u3057\u305f\u3002 [6]). \u7121\u7d30\u80deDNA\u62bd\u51fa\u3001\u30e9\u30a4\u30d6\u30e9\u30ea\u30fc\u69cb\u7bc9\u3001\u914d\u5217\u6c7a\u5b9a\u3001\u304a\u3088\u3073\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u5206\u6790\u3092\u3001\u4ee5\u524d\u306e\u7814\u7a76(\u53c2\u8003\u6587\u732e)\u306b\u5f93\u3063\u3066\u5b9f\u65bd\u3057\u305f\u3002 [6]). \u80ce\u5150\u3092\u542b\u307e\u306a\u3044DNA\u65ad\u7247\u306e\u30cf\u30a4\u30b9\u30eb\u30fc\u30d7\u30c3\u30c8\u914d\u5217\u6c7a\u5b9a\u306b\u306f\u3001JingXin BioelectronSeq 4000\u30b7\u30b9\u30c6\u30e0(CFDA\u767b\u9332\u8a31\u53efNO)\u3092\u4f7f\u7528\u3059\u308b\u3002 20153400309)\u534a\u5c0e\u4f53\u30b7\u30fc\u30af\u30a8\u30f3\u30b5\u3002 \u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\u30ea\u30fc\u30c9\u3092\u6ffe\u904e\u3057\u3001\u30d2\u30c8\u53c2\u7167\u30b2\u30ce\u30e0(hg19)\u306b\u6574\u5217\u3055\u305b\u305f\u3002 GC\u88dc\u6b63\u6cd5\u3068Z\u30b9\u30b3\u30a2\u691c\u67fb\u6cd5\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u3001\u80ce\u5150\u306e\u5e38\u67d3\u8272\u4f53\u7570\u6570\u6027\u3092\u540c\u5b9a\u3057\u305f\u3002 \u3053\u3053\u3067\u3001Z\u30b9\u30b3\u30a2\u306e\u7d76\u5bfe\u5024\u304c3\u3088\u308a\u5927\u304d\u3044\u5404\u67d3\u8272\u4f53\u306f\u3001\u67d3\u8272\u4f53\u7570\u6570\u6027\u307e\u305f\u306f\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3\u3067\u30de\u30fc\u30af\u3055\u308c\u305f\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E6%A0%B8%E5%9E%8B%E5%88%86%E6%9E%90%E3%81%8A%E3%82%88%E3%81%B3%E7%BE%8A%E6%B0%B4%E7%A9%BF%E5%88%BA\"><\/span>\u6838\u578b\u5206\u6790\u304a\u3088\u3073\u7f8a\u6c34\u7a7f\u523a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>NIPT\u7d50\u679c\u304c\u967d\u6027\u306e\u5973\u6027\u306f\u3001\u66f4\u306a\u308b\u691c\u8a3c\u306e\u305f\u3081\u306b\u7f8a\u6c34\u4e2d\u306e\u6838\u578b\u5206\u6790\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u305f\u3002 \u7f8a\u6c34\u7a7f\u523a\u306f\u3001\u30eb\u30fc\u30c1\u30f3\u306b\u8a18\u8f09\u3055\u308c\u3066\u3044\u308b\u3088\u3046\u306b\u5b9f\u65bd\u3057\u305f\u3002 \u6838\u578b\u89e3\u6790\u306f\u3001International System for Hu-  man Cytogenetic Nomenclature Guidelines [34] \u306b\u6e96\u62e0\u3057\u3066\u884c\u3063\u305f\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E9%99%B0%E6%80%A7%E4%BE%8B%E3%81%AE%E8%BF%BD%E8%B7%A1%E8%AA%BF%E6%9F%BB\"><\/span>\u9670\u6027\u4f8b\u306e\u8ffd\u8de1\u8abf\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>NIPT\u9670\u6027\u4f8b\u306b\u5bfe\u3057\u3066\u8ffd\u8de1\u8abf\u67fb\u3092\u884c\u3063\u305f\u3002 \u4e2d\u83ef\u4eba\u6c11\u5171\u548c\u56fd\u56fd\u6c11\u5065\u5eb7\u59d4\u54e1\u4f1a\u30df\u30c3\u30b7\u30e7\u30f3\u306e\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u3088\u308c\u3070\u3001\u51fa\u7523\u5f8c12\u9031\u76ee\u306b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u958b\u59cb\u3055\u308c\u305f\u3002 \u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u5185\u5bb9\u306b\u306f\u3001\u88ab\u9a13\u8005\u306e\u598a\u5a20\u8ee2\u5e30\u304a\u3088\u3073\u65b0\u751f\u5150\u306e\u5065\u5eb7\u3092\u542b\u3081\u308b\u3079\u304d\u3067\u3042\u308b\u3002 \u65b0\u751f\u5150\u306e\u4e3b\u306a\u7d4c\u904e\u89b3\u5bdf\u5185\u5bb9\u306f\u3001\u65b0\u751f\u5150\u304cT21\u304bT18\u304bT13\u304b\u306e\u3069\u3061\u3089\u306e\u60a3\u8005\u3067\u3042\u308b\u304b\u3067\u3042\u308b\u3002 \u8457\u8005\u3089\u306e\u8ffd\u8de1\u8abf\u67fb\u306f\u751f\u5f8c3\u304b\u6708\u304b\u3089\u958b\u59cb\u3057\u3001\u672c\u7814\u7a76\u306e\u56fd\u5bb6\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306b\u53b3\u5bc6\u306b\u5f93\u3063\u305f\u3002 \u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u6642\u306b\u3001\u5148\u5929\u7570\u5e38\u306e\u3042\u308b\u65b0\u751f\u5150\u3092\u8a34\u3048\u305f\u4e21\u89aa\u306f\u3001\u3055\u3089\u306a\u308b\u907a\u4f1d\u5b66\u7684\u8a3a\u65ad\u3092\u53d7\u3051\u308b\u3079\u304d\u3067\u3042\u308b\u3002 \u8ffd\u8de1\u4e0d\u80fd\u3068\u306a\u3063\u305fPa-tient\u306f\u89e3\u6790\u304b\u3089\u9664\u5916\u3057\u305f\u3002<\/p>\n<\/section>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E7%B5%B1%E8%A8%88%E8%A7%A3%E6%9E%90\"><\/span>\u7d71\u8a08\u89e3\u6790<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u7d71\u8a08\u89e3\u6790\u306b\u306fSPSS 20.0\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2\u3092\u7528\u3044\u305f\u3002 \u6e2c\u5b9a\u30c7\u30fc\u30bf\u306f\u5e73\u5747\u00b1\u6a19\u6e96\u504f\u5dee(x)\u3067\u8868\u3057\u305f\u3002<br>\n\u00b1SD)\u3001\u30ab\u30a6\u30f3\u30c8\u30c7\u30fc\u30bf\u306e\u63a1\u7528\u7387(%)\u3001\u6b63\u306e\u4e88\u6e2c\u5024=\u771f\u306e\u6b63\u306e\u6570\/\u3059\u3079\u3066\u306e\u967d\u6027\u4f8b\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E7%95%A5%E8%AA%9E\"><\/span>\u7565\u8a9e<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>cfDNA: \u7121\u7d30\u80deDNA; CMA: \u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u89e3\u6790; CNV: \u30b3\u30d4\u30fc\u6570\u5909\u7570\u4f53; MMS: \u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u30fb\u91cd\u8907\u75be\u60a3; <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>:\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>;NT:\u9805\u90e8\u534a\u900f\u660e;PPV:\u967d\u6027\u7684\u4e2d\u7387<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E8%AC%9D%E8%BE%9E\"><\/span>\u8b1d\u8f9e<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u5229\u7528\u3067\u304d\u306a\u3044\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E8%91%97%E8%80%85%E3%81%AE%E8%B2%A2%E7%8C%AE\"><\/span>\u8457\u8005\u306e\u8ca2\u732e<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u8457\u8005\u5168\u54e1\u304c\u672c\u7814\u7a76\u304a\u3088\u3073\u539f\u7a3f\u4f5c\u6210\u306b\u5b9f\u8cea\u7684\u306b\u53c2\u52a0\u3057\u3066\u3044\u308b\u3002 YC\u3001QY\u3001\u304a\u3088\u3073XM\u306f\u3059\u3079\u3066\u306e\u81e8\u5e8a\u30c7\u30fc\u30bf\u3092\u53ce\u96c6\u3057\u3001\u3059\u3079\u3066\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u89e3\u6790\u3092\u884c\u3063\u305f\u3002 WL\u306f\u30c7\u30fc\u30bf\u5206\u6790\u306b\u53c2\u52a0\u3057\u3001\u539f\u7a3f\u3092\u4f5c\u6210\u3057\u305f\u3002 MH\u306f\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u89e3\u6790\u306b\u95a2\u4e0e\u3057\u305f\u3002 WL\u306f\u3053\u306e\u7814\u7a76\u3092\u8a2d\u8a08\u3057\u3001\u539f\u7a3f\u306e\u8349\u6848\u3092\u4f5c\u6210\u3057\u3001\u6539\u8a02\u3057\u305f\u3002 \u8457\u8005\u5168\u54e1\u304c\u6700\u7d42\u8a18\u4e8b\u3092\u627f\u8a8d\u3057\u305f\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E8%B3%87%E9%87%91%E8%AA%BF%E9%81%94\"><\/span>\u8cc7\u91d1\u8abf\u9054<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u745e\u6c5f\u4fdd\u5065\u79d1\u5b66\u6280\u8853\u8a08\u753b(\u756a\u53f7) 2018KY720\n<\/p><\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E3%83%87%E3%83%BC%E3%82%BF%E5%8F%8A%E3%81%B3%E8%B3%87%E6%96%99%E3%81%AE%E5%85%A5%E6%89%8B%E5%8F%AF%E8%83%BD%E6%80%A7\"><\/span>\u30c7\u30fc\u30bf\u53ca\u3073\u8cc7\u6599\u306e\u5165\u624b\u53ef\u80fd\u6027<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u73fe\u5728\u306e\u7814\u7a76\u3067\u4f7f\u7528\u304a\u3088\u3073\/\u307e\u305f\u306f\u5206\u6790\u3055\u308c\u305f\u30c7\u30fc\u30bf\u30bb\u30c3\u30c8\u306f\u3001\u5408\u7406\u7684\u306a\u8981\u8acb\u306b\u57fa\u3065\u304d\u3001\u62c5\u5f53\u8457\u8005\u304b\u3089\u5165\u624b\u53ef\u80fd\u3067\u3042\u308b\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E5%80%AB%E7%90%86%E7%9A%84%E6%89%BF%E8%AA%8D%E3%83%BB%E5%8F%82%E5%8A%A0%E5%90%8C%E6%84%8F\"><\/span>\u502b\u7406\u7684\u627f\u8a8d\u30fb\u53c2\u52a0\u540c\u610f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u672c\u7814\u7a76\u306f\u5be7\u6ce2\u5973\u6027\u5c0f\u5150\u75c5\u9662\u502b\u7406\u59d4\u54e1\u4f1a\u306b\u3088\u308a\u627f\u8a8d\u3055\u308c\u305f\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E5%85%AC%E8%A1%A8%E3%81%AB%E5%AF%BE%E3%81%99%E3%82%8B%E5%90%8C%E6%84%8F\"><\/span>\u516c\u8868\u306b\u5bfe\u3059\u308b\u540c\u610f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u8457\u8005\u3089\u306f\u3001\u7af6\u5408\u3059\u308b\u5229\u5bb3\u95a2\u4fc2\u306f\u306a\u3044\u3068\u5ba3\u8a00\u3057\u3001\u3053\u306e\u75c7\u4f8b\u5831\u544a\u306e\u60a3\u8005\u306f\u767a\u8868\u306b\u540c\u610f\u3057\u305f\u3068\u8ff0\u3079\u3066\u3044\u308b\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E5%88%A9%E7%9B%8A%E7%9B%B8%E5%8F%8D\"><\/span>\u5229\u76ca\u76f8\u53cd<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u8457\u8005\u3089\u306f\u3001\u7af6\u5408\u3059\u308b\u5229\u5bb3\u95a2\u4fc2\u306f\u306a\u3044\u3068\u5ba3\u8a00\u3059\u308b\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E8%91%97%E8%80%85%E3%81%AE%E8%A9%B3%E7%B4%B0\"><\/span>\u8457\u8005\u306e\u8a73\u7d30<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u5be7\u6ce2\u5973\u5b50\u75c5\u9662\u3001No.339\u3001\u4e2d\u56fd\u3001\u5be7\u6ce2315010\u3001\u6d77\u5dde\u90e1\u5be7\u6ce2\u3001\u958b\u901a\u8857\u30011\u5be7\u6ce2\u30a6\u30a3\u30e1\u30f3\u30ba\u30fb\u30a2\u30f3\u30c9\u30fb\u30c1\u30eb\u30c9\u30ec\u30f3\u30fb\u30db\u30b9\u30d4\u30bf\u30eb\u3001Liuting Street\u3001\u4e2d\u56fd\u3001\u5be7\u6ce2315010\u3002 2CapitalBio\u30fb\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u793e\u3001\u4e2d\u56fd\u3001\u5317\u4eac101111 3Beijing CapitalBio Medical Laboratory, Beijing 101111, China.<\/p>\n\f\n<p>\u53d7\u7406:2019\u5e746\u670830\u65e5\u53d7\u7406:2019\u5e7411\u670815\u65e5<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u53c2\u8003\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<ul>\n<li>Lo\u3001Y.M.\u3001\u3089\u3001\u6bcd\u4f53\u8840\u6f3f\u304a\u3088\u3073\u8840\u6e05\u4e2d\u306e\u80ce\u5150DNA\u306e\u5b58\u5728\u3002 1997. 350(9076): p. 485-487.<\/li>\n<li>Minear, M.A., et al., Global perspectives on clinical adoption of <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>. 2015. 35(10): p. 959-967.<\/li>\n<li>Gil, M.M., et al., Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. 2015. 45(3): p. 249-266.<\/li>\n<li>Zhang, H., et al., Non-invasive premental testing for trisomies 21, 18, 13: \u598a\u5a20146,958\u4f8b\u306e\u81e8\u5e8a\u7d4c\u9a13\u3002 2015. 45(5): p. 530-538.<\/li>\n<li>McCullough RM\u4ed6 \u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u67d3\u8272\u4f53\u7570\u6570\u6027\u691c\u67fb\u2014\u81e8\u5e8a\u7d4c\u9a13:10\u4e07\u306e\u81e8\u5e8a\u691c\u4f53\u3002 PLoS One. 2014;9(10):e109173.<\/li>\n<li>Hu, H, et al., 190,277\u4f8b\u306e\u60a3\u8005\u691c\u4f53\u306b\u304a\u3051\u308b\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u67d3\u8272\u4f53\u7570\u6570\u6027\u691c\u67fb\u306e\u81e8\u5e8a\u7d4c\u9a13\u3002 2016. 16(8): p. -.<\/li>\n<li>Mccullough, R.M.et al., Non-invasive premental chromosomal aneuploidy testing \u2013 \u81e8\u5e8a\u7d4c\u9a13: 10\u4e07\u306e\u81e8\u5e8a\u691c\u4f53 2014. 9(10): p. e109173.<\/li>\n<li>Hu, H., et al., Noninvasive premental testing for chromosomal aneuploidies and subchromosomal microdeleations\/microduplication in a cohort of 8141 \u30b7\u30f3\u30b0\u30eb\u598a\u5a20\u3002 2019. 13(1): p. 14.<\/li>\n<li>Liang D, et al. \u62e1\u5927\u3057\u305f\u67d3\u8272\u4f53\u75be\u60a3\u75c7\u5019\u7fa4\u306b\u5bfe\u3059\u308b\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u81e8\u5e8a\u7684\u6709\u7528\u6027\u3002 Genet Med. 2019.<\/li>\n<li>Rose NC, Benn P, Milunsky A. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306b\u304a\u3051\u308b\u73fe\u5728\u306e\u8ad6\u4e891: NIPT\u306f\u65e5\u5e38\u7684\u306b\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u91cd\u8907\u3092\u542b\u3080\u3079\u304d\u304b? \u598a\u5a20\u8a3a\u65ad\u3002 2016;36(1):10\u20134.<\/li>\n<li>Evans, M.I., et al., Noninvasive prenatal screening or advanced diagnostic testing: caveat emptor. 2016. 215(3): p. 298-305.<\/li>\n<li>Neofytou MC\u4ed6 \u5927\u578b\u304a\u3088\u3073\u5c0f\u578b\u306e\u67d3\u8272\u4f53\u4e0b\u6b20\u5931\u304a\u3088\u3073\u91cd\u8907\u306e\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u305f\u3081\u306e\u6a19\u7684\u6355\u7372\u6fc3\u7e2e\u30a2\u30c3\u30bb\u30a4\u3002 PLoS One. 2017;12(2):e0171319.<\/li>\n<li>\u30e4\u30ed\u30f3Y\u4ed6 \u7121\u7d30\u80deDNA\u6280\u8853\u3092\u7528\u3044\u305f\u30df\u30af\u30ed\u6b20\u5931\u75c7\u5019\u7fa4\u304a\u3088\u3073\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u691c\u67fb\u306e\u73fe\u72b6 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a> 2015;126(5):1095\u20139.<\/li>\n<li>\u30e1\u30a2\u30ea\u30fcE\u4ed6 \u30c8\u30ea\u30bd\u30df\u30fc\u306e\u975e\u4fb5\u8972\u7684\u691c\u67fb\u306e\u305f\u3081\u306e\u7121\u7d30\u80deDNA\u5206\u6790\u3002 N Engl J Med. 2015;372:1589\u201397.<\/li>\n<li>Verma, I.C., R. Dua-Puri, and S.J.F. M. Bijarnia-Mahay, ACMG 2016\u306f\u3001\u80ce\u5150\u7570\u6570\u6027\u306e\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306b\u95a2\u3059\u308b\u66f4\u65b0\u3092\u884c\u3063\u3066\u3044\u308b:\u30a4\u30f3\u30c9\u3078\u306e\u5f71\u97ff\u3002 2017. 4(1): p. 1-6.<\/li>\n<li>Lutgendorf, M.A., et al., Noninvasive prefative testing: \u9650\u754c\u304a\u3088\u3073\u672a\u89e3\u6c7a\u306e\u8cea\u554f\u3002 2014. 16(4): p. 281-285.<\/li>\n<li>Schwartz, S. et al.\u3001\u7121\u7d30\u80deDNA\u3092\u7528\u3044\u305f\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u304a\u3088\u3073\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u967d\u6027\u306e\u81e8\u5e8a\u691c\u67fb\u306b\u3088\u308b\u8ffd\u8de1\u8abf\u67fb\u306e\u81e8\u5e8a\u7d4c\u9a13\u306f349\u4f8b\u3067\u3042\u3063\u305f\u3002 2018.<\/li>\n<li>Tjoa, M.L., et al., Trophoblastic \u9178\u5316\u30b9\u30c8\u30ec\u30b9\u304a\u3088\u3073\u7121\u7d30\u80de\u80ce\u5150\u80ce\u76e4DNA\u306e\u653e\u51fa\u3002 2006. 169(2): p. 400-404.<\/li>\n<li>J.A.J.O.M.G.P.C.S.i.M.G.Wapner\u3001\u9589\u3058\u8fbc\u3081\u80ce\u76e4<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u73fe\u8c61\u304a\u3088\u3073NIPT\u7d50\u679c\u306e\u78ba\u8a8d\u306b\u5bfe\u3059\u308b\u305d\u306e\u5f71\u97ff\u3002 2016. 172(2): p. 118-122.<\/li>\n<li>Grati, F.R., et al., Fetoplacental mosaicism: \u507d\u967d\u6027\u304a\u3088\u3073\u507d\u9670\u6027\u306e\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u7d50\u679c\u306b\u5bfe\u3059\u308b\u6f5c\u5728\u7684\u306a\u610f\u5473\u5408\u3044\u3002 2014. 16(8): p. 620.<\/li>\n<li>Gregg, A.R. et al., Noninvasive premental screening fetal aneuploidy, 2016 update: American College of Medical Genetics and Genomics\u306e\u898b\u89e3\u9673\u8ff0\u66f8\u3002 2016. 18(10): p. 1056-1065.<\/li>\n<li>\u30ce\u30fc\u30c8\u30f3ME \u4ed6 \u30c8\u30ea\u30bd\u30df\u30fc\u306e\u975e\u4fb5\u8972\u7684\u691c\u67fb\u306e\u305f\u3081\u306e\u7121\u7d30\u80deDNA\u5206\u6790\u3002 2015;372(17):1589\u201397.<\/li>\n<li>Yu, B, et al.\u3001\u6bcd\u4f53\u8840\u4e2d\u306e\u80ce\u5150\u904a\u96e2DNA\u306e\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u81e8\u5e8a\u7684\u4fa1\u5024\u306e\u7dcf\u5408\u7684\u8a55\u4fa1\u3002 2017. 96(27): p. e7114.<\/li>\n<li>Girirajan, S., C.D. Campbell, and E.E.J.A.R.o.G. Eichler, Human copy\u6570\u5909\u7570\u304a\u3088\u3073\u8907\u96d1\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3002 2011. 45(1): p. 203-226.<\/li>\n<li>\u30ef\u30d7\u30ca\u30fcRJ\u4ed6 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u305f\u3081\u306e\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u5bfe\u6838\u578b\u30bf\u30a4\u30d4\u30f3\u30b0\u3002 N Engl J Med. 2012;367(23):2175\u201384.<\/li>\n<li>Miller, D.T., et al., Consensus statement: \u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306f\u3001\u767a\u9054\u969c\u5bb3\u307e\u305f\u306f\u5148\u5929\u7570\u5e38\u3092\u6709\u3059\u308b\u500b\u4eba\u306b\u5bfe\u3059\u308b\u7b2c\u4e00\u6bb5\u968e\u306e\u81e8\u5e8a\u8a3a\u65ad\u691c\u67fb\u3067\u3042\u308b\u3002 2010. 86(5): p. 749-764.<\/li>\n<li>\u30e1\u30e9\u30cb\u30fc\u3001M. \u304a\u3088\u3073H.G.i.M. Louanne\u3001Array\u30d9\u30fc\u30b9\u306e\u6280\u8853\u3001\u306a\u3089\u3073\u306b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u691c\u51fa\u306e\u305f\u3081\u306e\u533b\u5b66\u907a\u4f1d\u5b66\u8a3a\u7642\u306b\u304a\u3051\u308b\u5229\u7528\u306b\u95a2\u3059\u308b\u63a8\u5968\u4e8b\u9805\u3002 2010. 12(11): p. 742-745.<\/li>\n<li>Niederstrasser, S.L.\u3089\u3001\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u5f8c\u306e\u80ce\u5150\u55aa\u5931:\u7d4c\u8179\u7684\u7d68\u6bdb\u30b5\u30f3\u30d7\u30ea\u30f3\u30b0\u3001\u7d4c\u9838\u7ba1\u7d68\u6bdb\u30b5\u30f3\u30d7\u30ea\u30f3\u30b0\u304a\u3088\u3073\u7f8a\u6c34\u7a7f\u523a\u306e\u6bd4\u8f03\u3002 2016. 37(S 01).<\/li>\n\n<li>Tabor A, Alfirevic Z. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u6280\u8853\u306b\u95a2\u3059\u308b\u624b\u6280\u95a2\u9023\u30ea\u30b9\u30af\u3092\u66f4\u65b0\u3059\u308b\u3002 \u80ce\u5150\u8a3a\u65ad 2010;27(1):1\u20137.<\/li>\n<li>Srinivasan A\u4ed6 \u6bcd\u4f53\u8840\u6f3f\u306e\u6df1\u3044\u914d\u5217\u6c7a\u5b9a\u3092\u4ecb\u3057\u305f\u80ce\u5150\u30b5\u30d6\u30af\u30ed\u30e2\u30bd\u30fc\u30e0\u7570\u5e38\u306e\u975e\u4fb5\u8972\u7684\u691c\u51fa\u3002 Am J Hum Genet. 2013;92(2):167\u201376.<\/li>\n<li>\u30de\u30fc\u30c1\u30f3K\u4ed6 \u81e8\u5e8a\u7684\u306b\u91cd\u8981\u306a5\u3064\u306e\u5168\u67d3\u8272\u4f53\u5168\u9818\u57df<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-deletion-guide\/\">\u90e8\u5206\u6b20\u5931<\/a>\u306b\u3064\u3044\u3066\u3001\u4e00\u5869\u57fa\u591a\u578b\u306b\u57fa\u3065\u304f\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306b\u3088\u308b\u81e8\u5e8a\u7d4c\u9a13\u3002 \u30af\u30ea\u30f3\u30fb\u30b8\u30a7\u30cd\u30c3\u30c8 2018;93(2):293\u2013300.<\/li>\n<li>Nicolaides, K.H., %J American Journal of Obstetrics and Gynecology, Nuchal translucency, \u304a\u3088\u3073\u305d\u306e\u4ed6\u306e\u598a\u5a20\u521d\u671f\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/fetal-ultrasound-exam\/\">\u8d85\u97f3\u6ce2\u30de\u30fc\u30ab\u30fc<\/a>\u3002 2004. 191(1): p. 45-67.<\/li>\n<li>Ching-Hua, H., et al., Extended first-trimester screening using multiple sonographic markers and maternal serum biochemistry: a five-year prospective study. 2014. 35(4): p. 296-301.<\/li>\n<li>Gonzalez Garcia, J.R. and J.P.J.B. Mezaespinoza, International system for \u30d2\u30c8\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u547d\u540d\u6cd5(ISCN)\u3002 2006. 108(12): p. 3952.<\/li>\n<\/ul>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%89%88%E7%A4%BE%E3%81%AE%E6%B3%A8%E8%A8%98\"><\/span>\u51fa\u7248\u793e\u306e\u6ce8\u8a18<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>Springer Nature\u306f\u3001\u516c\u958b\u3055\u308c\u3066\u3044\u308b\u5730\u56f3\u3084\u65bd\u8a2d\u5185\u306e\u63d0\u643a\u306b\u304a\u3051\u308b\u7ba1\u8f44\u6a29\u306e\u4e3b\u5f35\u306b\u95a2\u3057\u3066\u306f\u4e2d\u7acb\u7684\u3067\u3042\u308b\u3002<\/p>\n<\/section>\n","protected":false},"excerpt":{"rendered":"Noninvasive prenatal&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":523,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[71],"tags":[1076,489],"class_list":["post-3147","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise","tag-technology-3","tag-nipt-3"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/3147","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=3147"}],"version-history":[{"count":6,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/3147\/revisions"}],"predecessor-version":[{"id":125139,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/3147\/revisions\/125139"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/523"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=3147"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=3147"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=3147"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}