{"id":45244,"date":"2020-07-01T09:19:11","date_gmt":"2020-07-01T00:19:11","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/"},"modified":"2025-10-14T12:55:13","modified_gmt":"2025-10-14T03:55:13","slug":"nipt-cohort-study","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/?lang=zh-hans","title":{"rendered":"NIPT\u68c0\u6d4b42910\u540d\u4e34\u5e8a\u8868\u73b0\u4e0d\u540c\u7684\u5b55\u5987 (\u5355\u80ce) \u7684\u975e\u6574\u500d\u6027\u548c\u5168\u5e38\u67d3\u8272\u4f53\u533a\u57df\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u75be\u75c5\u7684\u961f\u5217\u7814\u7a76"},"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>\u5728 42,910 \u540d\u5177\u6709\u4e0d\u540c\u4e34\u5e8a\u7279\u5f81\u7684\u5355\u80ce\u598a\u5a20\u4e2d\u5bf9\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u548c\u4e9a\u67d3\u8272\u4f53\u5fae\u7f3a\u5931\/\u5fae\u91cd\u590d\u8fdb\u884c\u65e0\u521b\u4ea7\u524d\u68c0\u6d4b<\/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\n<section class=\"note_table table_0\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/?lang=zh-hans\/#%E4%B8%8A%E8%BF%B0%E8%AE%BA%E6%96%87%E7%9A%84%E8%80%83%E5%AF%9F\" >\u4e0a\u8ff0\u8bba\u6587\u7684\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\/?lang=zh-hans\/#%E7%AE%80%E4%BB%8B\" >\u7b80\u4ecb<\/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\/?lang=zh-hans\/#%E7%BB%93%E6%9E%9C\" >\u7ed3\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\/?lang=zh-hans\/#%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\/?lang=zh-hans\/#%E6%89%80%E6%9C%89%E6%80%80%E5%AD%95%E7%9A%84%E4%BA%A7%E5%89%8D%E6%A3%80%E6%9F%A5%E7%BB%93%E6%9E%9C\" >\u6240\u6709\u6000\u5b55\u7684\u4ea7\u524d\u68c0\u67e5\u7ed3\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\/?lang=zh-hans\/#T_21%E3%80%81T_18%E3%80%81T_13%E5%92%8CSCA%E7%9A%84NIPT%E7%BB%93%E6%9E%9C\" >T 21\u3001T 18\u3001T 13\u548cSCA\u7684NIPT\u7ed3\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\/?lang=zh-hans\/#%E8%A1%A81_%E6%8E%A5%E5%8F%97NIPT%E7%9A%84%E5%AD%95%E5%A6%87%E4%B8%B4%E5%BA%8A%E7%89%B9%E5%BE%81\" >\u88681 \u63a5\u53d7NIPT\u7684\u5b55\u5987\u4e34\u5e8a\u7279\u5f81<\/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\/?lang=zh-hans\/#CNV%E5%92%8C%E5%85%B6%E4%BB%96%E6%9F%93%E8%89%B2%E4%BD%93%E9%9D%9E%E6%95%B4%E5%80%8D%E6%80%A7%E7%9A%84NIPT%E7%BB%93%E6%9E%9C\" >CNV\u548c\u5176\u4ed6\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684NIPT\u7ed3\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\/?lang=zh-hans\/#%E8%A1%A82%E6%97%A0%E5%88%9B%E4%BA%A7%E5%89%8D%E6%A3%80%E6%9F%A5_NIPT_%E6%9F%93%E8%89%B2%E4%BD%93%E9%9D%9E%E6%95%B4%E5%80%8D%E6%80%A7%E7%9A%84%E8%A1%A8%E7%8E%B0\" >\u88682\u65e0\u521b\u4ea7\u524d\u68c0\u67e5 (NIPT) \u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684\u8868\u73b0<\/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\/?lang=zh-hans\/#%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\/?lang=zh-hans\/#%E8%A1%A83_%E5%90%84%E6%9F%93%E8%89%B2%E4%BD%93%E4%B8%8ACNV%E5%8F%8A%E5%85%B6%E4%BB%96%E6%9F%93%E8%89%B2%E4%BD%93%E9%9D%9E%E6%95%B4%E5%80%8D%E6%80%A7%E7%9A%84%E5%A4%A7%E5%B0%8F%E5%92%8C%E6%95%B0%E9%87%8F\" >\u88683 \u5404\u67d3\u8272\u4f53\u4e0aCNV\u53ca\u5176\u4ed6\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684\u5927\u5c0f\u548c\u6570\u91cf<\/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\/?lang=zh-hans\/#%E8%A1%A84%E3%80%80%E5%AF%B9%E5%BA%94CNV%E5%B0%BA%E5%AF%B8%E7%9A%84PPV\" >\u88684\u3000\u5bf9\u5e94CNV\u5c3a\u5bf8\u7684PPV<\/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\/?lang=zh-hans\/#%E8%A1%A85_%E6%A0%B9%E6%8D%AE%E6%80%80%E5%AD%95%E7%89%B9%E6%80%A7%E4%B8%8D%E5%90%8C%E7%9A%84PPV\" >\u88685 \u6839\u636e\u6000\u5b55\u7279\u6027\u4e0d\u540c\u7684PPV<\/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\/?lang=zh-hans\/#%E7%BB%93%E8%AE%BA\" >\u7ed3\u8bba<\/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\/?lang=zh-hans\/#%E6%9D%90%E6%96%99%E5%92%8C%E6%96%B9%E6%B3%95\" >\u6750\u6599\u548c\u65b9\u6cd5<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/?lang=zh-hans\/#%E6%82%A3%E8%80%85\" >\u60a3\u8005<\/a><\/li><\/ul><\/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\/?lang=zh-hans\/#%E8%A1%80%E6%B8%85%E5%AD%A6%E7%AD%9B%E6%9F%A5%E5%92%8C%E8%B6%85%E5%A3%B0%E6%B3%A2%E6%A3%80%E6%9F%A5\" >\u8840\u6e05\u5b66\u7b5b\u67e5\u548c\u8d85\u58f0\u6ce2\u68c0\u67e5<\/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\/?lang=zh-hans\/#%E5%BA%8F%E5%88%97%E6%B5%8B%E5%AE%9A\" >\u5e8f\u5217\u6d4b\u5b9a<\/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\/?lang=zh-hans\/#%E6%A0%B8%E5%9E%8B%E5%88%86%E6%9E%90%E5%92%8C%E7%BE%8A%E8%86%9C%E7%A9%BF%E5%88%BA%E6%9C%AF\" >\u6838\u578b\u5206\u6790\u548c\u7f8a\u819c\u7a7f\u523a\u672f<\/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\/?lang=zh-hans\/#%E9%98%B4%E6%80%A7%E7%97%85%E4%BE%8B%E7%9A%84%E8%BF%BD%E8%B8%AA%E8%B0%83%E6%9F%A5\" >\u9634\u6027\u75c5\u4f8b\u7684\u8ffd\u8e2a\u8c03\u67e5<\/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\/?lang=zh-hans\/#%E7%BB%9F%E8%AE%A1%E5%88%86%E6%9E%90\" >\u7edf\u8ba1\u5206\u6790<\/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\/?lang=zh-hans\/#%E7%BC%A9%E5%86%99\" >\u7f29\u5199<\/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\/?lang=zh-hans\/#%E8%87%B4%E8%B0%A2\" >\u81f4\u8c22<\/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\/?lang=zh-hans\/#%E4%BD%9C%E8%80%85%E7%9A%84%E8%B4%A1%E7%8C%AE\" >\u4f5c\u8005\u7684\u8d21\u732e<\/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\/?lang=zh-hans\/#%E8%B5%84%E9%87%91%E7%AD%B9%E9%9B%86\" >\u8d44\u91d1\u7b79\u96c6<\/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\/?lang=zh-hans\/#%E6%95%B0%E6%8D%AE%E5%92%8C%E8%B5%84%E6%96%99%E7%9A%84%E5%8F%AF%E8%8E%B7%E5%BE%97%E6%80%A7\" >\u6570\u636e\u548c\u8d44\u6599\u7684\u53ef\u83b7\u5f97\u6027<\/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\/?lang=zh-hans\/#%E4%BC%A6%E7%90%86%E8%AE%A4%E5%8F%AF%E5%92%8C%E5%8F%82%E4%B8%8E%E5%90%8C%E6%84%8F\" >\u4f26\u7406\u8ba4\u53ef\u548c\u53c2\u4e0e\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\/?lang=zh-hans\/#%E5%90%8C%E6%84%8F%E5%85%AC%E5%B8%83\" >\u540c\u610f\u516c\u5e03<\/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\/?lang=zh-hans\/#%E5%88%A9%E7%9B%8A%E5%86%B2%E7%AA%81\" >\u5229\u76ca\u51b2\u7a81<\/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\/?lang=zh-hans\/#%E4%BD%9C%E8%80%85%E8%AF%A6%E7%BB%86%E4%BF%A1%E6%81%AF\" >\u4f5c\u8005\u8be6\u7ec6\u4fe1\u606f<\/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\/?lang=zh-hans\/#%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-34\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/?lang=zh-hans\/#%E5%87%BA%E7%89%88%E5%95%86%E6%B3%A8%E9%87%8A\" >\u51fa\u7248\u5546\u6ce8\u91ca<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h3><span class=\"ez-toc-section\" id=\"42910%E4%B8%AA%E5%8D%95%E8%83%8E%E5%AD%95%E5%A6%87%E6%A3%80%E6%9F%A5%E6%97%B6\"><\/span>42,910\u4e2a\u5355\u80ce\u5b55\u5987\u68c0\u67e5\u65f6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<table>\n<thead>\n<tr>\n<th><\/th>\n<th>21\u53f7<\/th>\n<th>18\u53f7<\/th>\n<th>13\u53f7<\/th>\n<th>\u6027\u67d3\u8272\u4f53<\/th>\n<th>\u5168\u67d3\u8272\u4f53<\/th>\n<th>\u7f3a\u5931\u30fb\u91cd\u590d<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<th data-total=\"535\">\u9633\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>\u9633\u6027\u7387<\/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%E6%91%98%E8%A6%81\"><\/span>\uff03\u6458\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p><strong>\u80cc\u666f:<\/strong> \u81ea\u4ece\u5728\u6bcd\u4f53\u8840\u6d46\u4e2d\u53d1\u73b0\u65e0\u7ec6\u80deDNA (cfDNA) \u4ee5\u6765\uff0c\u5f00\u8f9f\u4e86\u4e00\u79cd\u65b0\u578b\u7684\u65e0\u521b\u4ea7\u524d\u68c0\u67e5\u65b9\u6cd5\u3002\u968f\u7740\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\u7684\u8fdb\u5c55\uff0c NIPT\u53d1\u73b0\u4e86\u5168\u5e38\u67d3\u8272\u4f53\u5168\u57df\u90e8\u5206\u7f3a\u5931\u548c\u91cd\u590d\u75be\u75c5\u3002\u672c\u7814\u7a76\u65e8\u5728\u56de\u987eNIPT\u4f5c\u4e3a\u975e\u6574\u500d\u6027\u548cCNV (copy number variation,\u8ba1\u6570\u53d8\u5f02) \u7b5b\u67e5\u6d4b\u8bd5\u572842,910\u4f8b\u5355\u6b21\u6000\u5b55\u4e2d\u7684\u6709\u6548\u6027\u3002<\/p>\n<p><strong>\u65b9\u6cd5:<\/strong> \u5171\u52df\u96c6\u4e8642910\u4f8b\u5177\u6709\u4e0d\u540c\u4e34\u5e8a\u7279\u5f81\u7684\u5355\u6b21\u6000\u5b55\u3002\u76f4\u63a5\u5bf9\u65e0\u7ec6\u80de\u80ce\u513fDNA\u8fdb\u884c\u6d4b\u5e8f\u3002\u5206\u6790\u6bcf\u4e2a\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u548c\u5168\u5e38\u67d3\u8272\u4f53\u533a\u57df\u90e8\u5206\u7f3a\u5931\u30fb\u91cd\u590d\u75be\u75c5\u3002<\/p>\n<p><strong>\u7ed3\u679c:<\/strong> \u5171\u6709534\u4f8b\u6000\u5b55 (1.24%) \u4e3aNIPT\u53d1\u73b0\u7684\u5f02\u5e38\u7ed3\u679c,403\u4f8b\u6000\u5b55\u4e3a\u4ea7\u524d\u8bca\u65ad\u300221\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7 (T 21) \u300118\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7 (T 18) \u300113\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7 (T 13) \u3001\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027 (SCA) \u53ca\u5176\u4ed6\u7684\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684\u9633\u6027\u9884\u6d4b\u503c (PPV) \u5206\u522b\u4e3a79.23%\u300154.84%\u300113.79%\u300133.04%\u53ca9.38%\u3002CNV\u7684PPV\u4e3a28.99%\u3002CNV\u22645 Mb\u7684PPV\u4e3a20.83%\uff0c 5~10 Mb\u4e3a50.00%\uff0c>10 Mb\u4e3a27.27%.\u3002\u6839\u636e\u6000\u5b55\u7279\u5f81, NIPT\u7684PPV\u4e5f\u4e0d\u540c\u3002\n<\/p>\n<p><strong>\u7ed3\u8bba:<\/strong> \u4f5c\u8005\u7684\u6570\u636e\u53ef\u80fd\u5bf9\u4e8e\u8bc1\u660eNIPT\u5206\u6790\u5bf9CNV\u4ee5\u53ca\u5e38\u89c1\u7684\u5168\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684\u6709\u6548\u6027\u5177\u6709\u91cd\u8981\u610f\u4e49\u3002\u7136\u800c\uff0c\u8fd9\u79cd\u6700\u65b0\u7684\u65b9\u6cd5\u4ecd\u5904\u4e8eCNV\u7684\u65e9\u671f\u9636\u6bb5\u3002\u5728\u4e34\u5e8a\u5b9e\u8df5\u4e2d\uff0c\u5177\u6709\u51c6\u786e\u68c0\u51fa\u7387\u548c\u5047\u9633\u6027\u7387\u7684\u4e34\u5e8a\u9a8c\u8bc1\u7814\u7a76\u4ecd\u7136\u662f\u5fc5\u8981\u7684\u3002<\/p>\n<p><strong>\u5173\u952e\u5b57:<\/strong>\u65e0\u521b\u4ea7\u524d\u68c0\u67e5 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>) \uff0c\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\uff0c\u5168\u5e38\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931\u30fb\u91cd\u590d\u75be\u75c5 (MMS) \uff0c\u4e34\u5e8a\u7279\u5f81\uff0c\u9633\u6027\u9884\u6d4b\u503c (PPV)<\/p>\n<\/section>\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E4%B8%8A%E8%BF%B0%E8%AE%BA%E6%96%87%E7%9A%84%E8%80%83%E5%AF%9F\"><\/span>\u4e0a\u8ff0\u8bba\u6587\u7684\u8003\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u6839\u636eChen\u7b49\u4eba\u4e8e2019\u5e74\u53d1\u8868\u7684\u8bba\u6587,21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u7684\u53d1\u751f\u7387\u4e3a155\/42910=1\/276,18\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u7684\u53d1\u751f\u7387\u4e3a44\/42910=1\/975,13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u7684\u53d1\u751f\u7387\u4e3a33\/42910=1\/1300\u3002\u4e0e\u901a\u5e38\u79f0\u4e3aO\u7ec4\u7684\u68c0\u67e5\u9879\u76ee\u4e00\u81f4\u3002\u6b64\u5916\uff0c\u8fd9\u662fNIPT\u534f\u4f1a\u5728\u65e5\u672c\u8fdb\u884c\u68c0\u67e5\u7684\u68c0\u67e5\u5185\u5bb9\u3002\u800c\u6027\u67d3\u8272\u4f53\u7684\u53d1\u751f\u7387\u4e3a147\/42910=1\/291,\u4ec5\u6b21\u4e8e21\u53f7\u67d3\u8272\u4f53\u3002\u5982\u679c\u662f\u672c\u68c0\u67e5,\u8fd9\u662f\u5728O+\u7ec4\u6216A\u7ec4\u4e2d\u68c0\u6d4b\u51fa\u7684\u5185\u5bb9\u3002\u4e5f\u6709\u667a\u529b\u4e0d\u8db3\u7b49\u53d1\u80b2\u8fdf\u7f13\u7684\u60c5\u51b5,\u867d\u7136\u6ca1\u6709\u8fdb\u884c\u68c0\u67e5,\u4f46\u5c5e\u4e8e\u9891\u7387\u6bd4\u8f83\u591a\u7684\u4e00\u7c7b\u3002\u53e6\u5916\uff0c\u5305\u62ec\u5728\u6211\u56fd\u8fdb\u884c\u7684D+\u7ec4\u5408\u4e2d\u7684\u5168\u67d3\u8272\u4f53\u3001\u5168\u5e38\u67d3\u8272\u4f53\u5168\u533a\u57df\u90e8\u5206\u7f3a\u5931\u3001\u91cd\u590d\u75be\u75c5\u7684\u53d1\u751f\u7387\u4e3a (47+109) \/42910=1\/275,\u4e0e21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u76f8\u540c\u3002\u5230\u76ee\u524d\u4e3a\u6b62\uff0c\u4ec5\u57281.4\u30015\u300115\u300122\u53f7\u8fd9\u4e00\u7279\u5b9a\u533a\u57df\u68c0\u6d4b\u5168\u5e38\u67d3\u8272\u4f53\u5168\u533a\u57df\u90e8\u5206\u7f3a\u5931\u75be\u75c5\u7684D\u7ec4\u51e0\u4e4e\u6ca1\u6709\u53d1\u751f\uff0c\u4f46\u6709\u62a5\u544a\u663e\u793a\uff0c\u5168\u5e38\u67d3\u8272\u4f53\u5168\u533a\u57df\u90e8\u5206\u7f3a\u5931\u3001\u91cd\u590d\u75be\u75c5\u7684\u53d1\u751f\u9891\u7387\u8f83\u9ad8\u3002\u4f46\u662f\uff0c\u50cf\u5168\u67d3\u8272\u4f53\u7684\u975e\u6574\u500d\u6027\u548c13\u53f7\u67d3\u8272\u4f53\u90a3\u6837\uff0c\u867d\u7136\u53d1\u751f\u9891\u7387\u5f88\u4f4e\uff0c\u4f46\u9633\u6027\u9884\u6d4b\u503c\u76f8\u5bf9\u8f83\u4f4e\u3002\u53ef\u4ee5\u8ba4\u4e3a\uff0c\u5982\u679cNIPT\u5b9a\u4f4d\u4e3a\u7b5b\u9009\u68c0\u67e5\uff0c\u4e5f\u6709\u4e0d\u53ef\u907f\u514d\u7684\u5730\u65b9\u3002\u53e6\u5916\uff0c\u603b\u4f53\u4e0a\u7ed9\u4eba\u7684\u5370\u8c61\u662f\u9633\u6027\u6570\u6bd4\u6211\u56fd\u7684\u8bbe\u65bd\u5c11\u3002\u8fd9\u662f\u56e0\u4e3a\u5728\u672c\u8bba\u6587\u4e2d\u63d0\u53d6\u7684\u4eba\u7fa4\u4e2d35\u5c81\u4ee5\u4e0a\u7684\u5b55\u5987\u6bd4\u4f8b\u4e3a25.03%\uff0c\u4f4e\u4e8eHiro\u8bca\u6240\u3002\u5728Hiro\u8bca\u6240NIPT\u4e2d\u6709\u6570\u91cf\u66f4\u591a\u7684\u611f\u89c9,\u4f46\u4e0a\u8ff0\u9633\u6027\u9891\u7387\u7684\u6bd4\u4f8b\u5728\u611f\u89c9\u4e0a\u63a5\u8fd1\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>\u4f5c\u80052019 Open Access\u672c\u6587\u662f\u6839\u636e\u77e5\u8bc6\u5171\u4eab\u5c5e\u60274.0\u56fd\u9645\u8bb8\u53ef\u8bc1 (http:\/\/creativecommons.org\/licenses\/by\/4.0\/) \u7684\u6761\u6b3e\u5206\u53d1\u7684\u3002\u672c\u8bb8\u53ef\u8bc1\u5141\u8bb8\u5728\u4efb\u4f55\u5a92\u4f53\u4e0a\u65e0\u9650\u5236\u5730\u4f7f\u7528\u3001\u53d1\u5e03\u548c\u590d\u5236\u3002\u4f46\u662f\uff0c\u524d\u63d0\u662f\u5fc5\u987b\u5411\u539f\u59cb\u4f5c\u8005\u548c\u6765\u6e90\u63d0\u4f9b\u9002\u5f53\u7684\u4fe1\u7528,\u63d0\u4f9b\u4e0e\u77e5\u8bc6\u5171\u4eab\u8bb8\u53ef\u8bc1\u7684\u94fe\u63a5,\u5e76\u6307\u793a\u662f\u5426\u8fdb\u884c\u4e86\u66f4\u6539\u3002\u9664\u975e\u53e6\u6709\u8bf4\u660e\uff0c\u5426\u5219\u77e5\u8bc6\u5171\u4eab\u516c\u5171\u9886\u57df\u4e13\u7528\u653e\u5f03 (http:\/\/creativecommons.org\/publicdomain\/zero\/1.0\/) \u9002\u7528\u4e8e\u672c\u6761\u63d0\u4f9b\u7684\u6570\u636e\u3002<\/p><\/div>\n\n\n\n<section>\n<h2><span class=\"ez-toc-section\" id=\"%E7%AE%80%E4%BB%8B\"><\/span>\u7b80\u4ecb<span class=\"ez-toc-section-end\"><\/span><\/h2>\n<p>\u81ea1997\u5e74 [1] \u5728\u4e09\u7aef\u8840\u6d46\u4e2d\u53d1\u73b0\u65e0\u7ec6\u80de\u80ce\u513fDNA (cffDNA) \u4ee5\u6765\uff0c\u5176\u4e3a\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>) \u5f00\u8f9f\u4e86\u65b0\u7684\u5e94\u7528\u9886\u57df\u3002\u81ea2011\u5e74\u4ee5\u6765\uff0c\u80ce\u513f\u53cc\u500d\u4f53\u7684\u5927\u89c4\u6a21\u5e76\u884c\u6d4b\u5e8f (MPS) \u5df2\u572860\u591a\u4e2a\u56fd\u5bb6\u63a8\u51fa\u3002\u4f7f\u7528\u5728\u6bcd\u4f53\u8840\u6db2\u4e2d\u5faa\u73af\u7684cfDNA\u7684NIPT\u6253\u5f00\u4e86\u65e9\u671f\uff0c\u51c6\u786e\u548c\u5b89\u5168\u7684\u4ea7\u524d\u68c0\u67e5\u7684\u5927\u95e8,\u5e76\u4e14\u5df2\u7ecf\u5728\u4e34\u5e8a\u4e0a\u4f7f\u7528\u4e868\u5e74\u4ee5\u4e0a [2] \u300221\u300118\u300113\u3001\u5355\u4f53\u6027X\u548c\u5176\u4ed6\u6027\u522b\u7684\u7b5b\u9009\u7684\u52a0\u6743\u5408\u5e76\u68c0\u51fa\u7387\u548c\u5047\u9633\u6027\u7387\u62a5\u544a\u4e3a99.2% (0.09%) \u300196.3% (0.13%) \u300191% (0.13%) \u300190.3% (0.23%) \u548c93% (0.14%) [3] \u3002<br>\n\u8d8a\u6765\u8d8a\u591a\u7684\u7814\u7a76\u8868\u660eNIPT\u53ef\u4ee5\u51cf\u5c11\u4e0d\u5fc5\u8981\u7684\u4fb5\u5165\u6027\u624b\u672f\u548c\u964d\u4f4e\u533b\u6e90\u6027\u80ce\u513f\u6d41\u5931\u7684\u53d1\u751f\u7387 [4] \u3002\u4e0e\u5e38\u89c4\u7684\u751f\u7269\u5b66\u548c\u8d85\u58f0\u6ce2\u7b5b\u9009\u76f8\u6bd4, NIPT\u5177\u6709\u8bb8\u591a\u9644\u52a0\u4f18\u70b9,\u4f8b\u5982\u66f4\u9ad8\u7684\u7075\u654f\u5ea6\u548c\u7279\u5f02\u6027,\u4ee5\u53ca\u5728\u66f4\u65e9\u7684\u80ce\u9f84\u4e2d\u8fdb\u884cNIPT\u7684\u80fd\u529b\u3002\u5728\u4e2d\u56fd\uff0c\u5bf9\u4e8e\u598a\u5a20\u665a\u671f\u8840\u6e05\u5b66\u7b5b\u67e5\u7ed3\u679c\u98ce\u9669\u9ad8\u7684\u60a3\u8005,\u6062\u590dNIPT\u7b5b\u67e521\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7(T21) ,T18\u53caT13 [5] \u3002\u76ee\u524d\uff0c\u8d8a\u6765\u8d8a\u591a\u7684\u5b55\u5987\u9009\u62e9NIPT [6\u30017]\u3002<br>\n\u8fd9\u79cd\u6700\u65b0\u7684\u4ea7\u524d\u7b5b\u67e5\u65b9\u6cd5\u8fd8\u6709\u5176\u4ed6\u7528\u9014,\u5305\u62ec\u7b5b\u67e5\u7531\u5c0f\u4e8e10Mb\u7684\u590d\u5236\u53d8\u4f53 (CNV) \u5f15\u8d77\u7684\u5168\u5e38\u67d3\u8272\u4f53\u5168\u57df\u90e8\u5206\u7f3a\u5931\u30fb\u91cd\u590d\u75be\u75c5 (MMS) \u3002MMS\u5f88\u5c11\u89c1\uff0c\u4f46\u5360\u65b0\u751f\u513f\u751f\u6b96\u5668\u5f02\u5e38\u76841%\u81f32%,\u901a\u5e38\u7ed9\u5bb6\u5ead\u548c\u793e\u4f1a\u5e26\u6765\u6c89\u91cd\u8d1f\u62c5\u3002\u6700\u8fd1\uff0c NIPT\u8fdb\u4e00\u6b65\u53d1\u5c55\u548c\u6269\u5c55\u4e13\u6ce8\u4e8eHu\u7b49MMS\u3002[8] \u548cLiang\u7b49 [9] demon-stratedNIPT\u5728\u4e00\u4e9bMMS\u4e2d\u8868\u73b0\u826f\u597d\u3002<br>\n\u7136\u800c\uff0c\u4e34\u5e8a\u5b9e\u8df5\u4e2d\u5b58\u5728\u8bb8\u591a\u95ee\u9898\u548c\u6311\u6218\uff0c\u9700\u8981\u8fdb\u884c\u5e7f\u6cdb\u7684\u9a8c\u8bc1\u624d\u80fd\u51b3\u5b9a\u3002<br>\n\u51c6\u786e\u7684\u68c0\u6d4b\u7387\u548c\u5047\u9633\u6027\u7387\u3000\u672c\u7814\u7a76\u7684\u76ee\u7684\u662f\u56de\u987eNIPT\u4f5c\u4e3a\u975e\u6574\u500d\u6027\u548cCNV\u7b5b\u67e5\u6d4b\u8bd5\u572842,910\u4f8b\u5355\u6000\u5b55\u4e2d\u7684\u6709\u6548\u6027\u3002<\/p>\n<\/section>\n\n<section>\n<h2><span class=\"ez-toc-section\" id=\"%E7%BB%93%E6%9E%9C\"><\/span>\u7ed3\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\u81f32018\u5e7412\u6708\uff0c\u5728\u4e2d\u56fd\u5b81\u6ce2\u5987\u5973\u513f\u7ae5\u533b\u9662\u5171\u91c7\u96c6\u4e8642931\u4efd\u6bcd\u4f53\u8840\u6837\u3002\u5176\u4e2d21\u4f8b\u5931\u8d25,\u5931\u8d25\u73870.05%\u3002\u56e0\u6b64\uff0c\u672c\u7814\u7a76\u5171\u7eb3\u5165\u6837\u672c42910\u4efd\u3002\u5b55\u671f\u4e3a12+0~26+6,\u5e74\u9f84\u4e3a18~49\u5c81,\u5b55\u9f84\u8f83\u5927 (35\u5c81\u4ee5\u4e0a) \u7684\u5973\u6027\u4e3a10742\u4eba\u300242,910\u4f8b\u7684\u4e34\u5e8a\u7279\u5f81\u5982\u88681\u6240\u793a\u3002\u5728\u8fd942,910\u4e2a\u6837\u672c\u4e2d\uff0c\u56e0\u8840\u6d46\u4e2d\u80ce\u513fDNA\u6d53\u5ea6\u4f4e\u800c\u9700\u8981\u91cd\u65b0\u53d6\u6837\u7684\u5b55\u5987\u6709348\u4f8b\uff0c\u91cd\u65b0\u53d6\u6837\u7684\u6bd4\u7387\u4e3a0.81% (348\/42910) \uff0c\u6240\u6709\u7684\u91cd\u65b0\u53d6\u6837\u90fd\u5f97\u5230\u4e86NIPT\u7ed3\u679c (\u88681) \u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"%E6%89%80%E6%9C%89%E6%80%80%E5%AD%95%E7%9A%84%E4%BA%A7%E5%89%8D%E6%A3%80%E6%9F%A5%E7%BB%93%E6%9E%9C\"><\/span>\u6240\u6709\u6000\u5b55\u7684\u4ea7\u524d\u68c0\u67e5\u7ed3\u679c<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u5728NIPT\u4e4b\u524d\uff0c\u5b55\u5987\u8fdb\u884c\u5e38\u89c4\u7684\u73af\u7ba1\u7b5b\u67e5,\u5305\u62ec\u80ce\u513f\u8d85\u58f0\u6ce2\u68c0\u67e5 (\u5305\u542b\u5f69\u8272\u8d85\u58f0\u6ce2\u548c3D\u5f69\u8272\u8d85\u58f0\u6ce2) \u548c\u6bcd\u4f53\u8840\u6e05\u751f\u7269\u6807\u5fd7\u7269\u3002\u8d85\u58f0\u6ce2\u68c0\u67e5\u663e\u793a202 (0.47%) \u7684\u80ce\u513f\u7ed3\u6784\u5f02\u5e38,\u67095749 (13.4%) \u7684\u80ce\u513fNT (NT\u22653mm) \u589e\u52a0\u3002\u5b55\u5987\u8840\u6e05\u751f\u7269\u6807\u5fd7\u7269\u68c0\u6d4b\u663e\u793a\uff0c\u9ad8\u5371\u6000\u5b552318\u4f8b (5.4%) ,\u4e25\u91cd\u9ad8\u5371\u6000\u5b5515863\u4f8b (36.97%) ,\u67098024\u4f8b (18.70%) \u6000\u5b55\u65e0\u4e34\u5e8a\u6307\u5f81 (\u88681) \u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"T_21%E3%80%81T_18%E3%80%81T_13%E5%92%8CSCA%E7%9A%84NIPT%E7%BB%93%E6%9E%9C\"><\/span>T 21\u3001T 18\u3001T 13\u548cSCA\u7684NIPT\u7ed3\u679c<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u6d41\u7a0b\u56fe\u5982\u56fe1\u6240\u793a\u3002\u5171\u52df\u96c6\u4e8642931\u4e2a\u6837\u672c,\u5f97\u5230\u4e8642910\u4e2aNIPT\u7ed3\u679c\u3002<\/p>\n<\/section>\n\n<section class=\"note_table table_1\">\n<h3><span class=\"ez-toc-section\" id=\"%E8%A1%A81_%E6%8E%A5%E5%8F%97NIPT%E7%9A%84%E5%AD%95%E5%A6%87%E4%B8%B4%E5%BA%8A%E7%89%B9%E5%BE%81\"><\/span>\u88681 \u63a5\u53d7NIPT\u7684\u5b55\u5987\u4e34\u5e8a\u7279\u5f81<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<table>\n<thead>\n<tr>\n<th>NIPT\u65f6\u7684\u6000\u5b55\u5e74\u9f84 (\u5468)<\/th>\n<th>\u7f16\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>\u4e34\u5e8a\u7279\u5f81<\/th>\n<th>\u7f16\u53f7<\/th>\n<th>\u6bd4\u7387(%)<\/th>\n<\/tr><\/thead>\n<tbody>\n<tr>\n<td>B-\u8d85\u58f0\u6ce2\u68c0\u67e5\u663e\u793a\u80ce\u513f\u7ed3\u6784\u5f02\u5e38<\/td>\n<td>202<\/td>\n<td>0.47<\/td>\n<\/tr>\n<tr>\n<td>NT\u589e\u52a0<\/td>\n<td>5749<\/td>\n<td>13.4<\/td>\n<\/tr>\n<tr>\n<td>\u5176\u4ed6\u7684a<\/td>\n<td>12<\/td>\n<td>0.03<\/td>\n<\/tr>\n<tr>\n<td>\u8840\u6e05\u5b66\u7b5b\u67e5\u7684\u9ad8\u98ce\u9669<\/td>\n<td>2318<\/td>\n<td>5.40<\/td>\n<\/tr>\n<tr>\n<td>\u8840\u6e05\u5b66\u7b5b\u67e5\u7684\u4e25\u91cd\u98ce\u9669<\/td>\n<td>15863<\/td>\n<td>36.97<\/td>\n<\/tr>\n<tr>\n<td>\u6bcd\u4eb2\u5e74\u9f84\u8f83\u5927 (\u226535\u5c81)<\/td>\n<td>10742<\/td>\n<td>25.03<\/td>\n<\/tr>\n<tr>\n<td>\u65e0\u4e34\u5e8a\u6307\u5f81<\/td>\n<td>8024<\/td>\n<td>18.70<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p class=\"table_comment\">\u4ecb\u5165\u624b\u672f\u7981\u5fcc\u8005:\u518d\u6b21\u624b\u672f\u611f\u67d3\u3001\u524d\u7f6e\u80ce\u76d8\u3001\u80ce\u76d8\u51fa\u8840\u3001\u4e0d\u826f\u6000\u5b55\u75c5\u53f2<\/p>\n<\/section>\n\n<section>\n<p>\u5f02\u5e38\u7ed3\u679c534\u4f8b (1.24%) .\u3002\u5728\u8fd9534\u4f8b\u4e2d\uff0c21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u4f8b\u4e2d\u7684155\u4f8b (T21) \uff0c T18\u4f8b\u4e2d\u768444\u4f8b\uff0c T13\u4f8b\u4e2d\u768433\u4f8b\uff0c\u6027\u67d3\u8272\u4f53\u5f02\u5e38 (SCA) \u4f8b\u4e2d\u7684147\u4f8b\uff0c\u5176\u4ed6\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027(T21\u3001T18\u3001T13,\u4e0d\u5305\u62ec\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027)\u4f8b\u4e2d\u768446\u4f8b\uff0c\u4ee5\u53caCNV\u4f8b\u4e2d\u7684109\u4f8b\u3002<br>\n\u83b7\u5f97\u6838\u578b\uff0c\u5e76\u9a8c\u8bc1\u4e86NIPT\u9884\u6d4b\u7684\u5f02\u5e38\u7ed3\u679c.\u3002T21, T18, T13\u548cSCA\u7684\u603b\u5f02\u5e38\u7ed3\u679c\u4e3a379\u4f8b\u3002\u5728\u8fd9379\u4f8b\u4e2d\uff0c\u6709302\u4f8b\u8fdb\u884c\u4e86\u4ea7\u524d\u8bca\u65ad\u68c0\u67e5\uff0c\u786e\u8ba4\u4e86161\u4f8b\u771f\u9633\u6027(T21 103\u4f8b\uff0c T18 17\u4f8b\uff0c T13 4\u4f8b\uff0c SCA 37\u4f8b)\u548c141\u4f8b\u5047\u9633\u6027 (FP) \u3002\u6b64\u5916\uff0c\u8bc4\u4f30\u6bcf\u4e2a\u6d4b\u8bd5\u7684\u9633\u6027\u9884\u6d4b\u503c (PPV) \u3002\u572821\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u4e2d\uff0c PPV\u4e3a79.23%\uff0c\u572818\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u4e2d\u4e3a54.84%\uff0c\u572813\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u4e2d\u4e3a13.79%\uff0c\u5728SCA\u4e2d\u4e3a33.04% (\u88682\u548c\u56fe1) \u3002<\/p>\n\n<h3><span class=\"ez-toc-section\" id=\"CNV%E5%92%8C%E5%85%B6%E4%BB%96%E6%9F%93%E8%89%B2%E4%BD%93%E9%9D%9E%E6%95%B4%E5%80%8D%E6%80%A7%E7%9A%84NIPT%E7%BB%93%E6%9E%9C\"><\/span>CNV\u548c\u5176\u4ed6\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684NIPT\u7ed3\u679c<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u6b64\u5916\uff0c\u7531\u4e8e\u8be5\u6280\u672f\u662f\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f\uff0c\u56e0\u6b64\u5206\u6790\u4e86CNV\u548c\u5176\u4ed6\u4e00\u4e9b\u67d3\u8272\u4f53\u7684\u975e\u6574\u500d\u6027\u3002CNV\u5f02\u5e38\u7684\u603b\u75c5\u4f8b\u5982\u4e0b\u3002<br>\n\u5728109\u4f8b\u75c5\u4f8b\u4e2d,20\u4f8b\u4e3a\u771f\u9633\u6027,49\u4f8b\u4e3a\u5047\u9633\u6027,50\u4f8b\u672a\u786e\u8ba4\u3002\u8bc4\u4f30\u6bcf\u4e2a\u67d3\u8272\u4f53\u4e0a\u7684CNV\u6570\u91cf\u548c\u5927\u5c0f\u3002CNV\u6839\u636e\u957f\u5ea6\u5206\u4e3a3\u7ec4:CNV\u2264Mb\u30015~10 Mb\u4ee5\u5185\u7684CNV\u548c\u8d85\u8fc710 Mb\u7684CNV\u3002\u8fd8\u8bc4\u4f30\u4e86\u6bcf\u7ec4\u7684PPV\u3002CNV\u7684\u603bPPV\u4e3a28.99%\u30025 Mb\u4ee5\u4e0b\u7684CNV\u7684PPV\u4e3a20.83%\uff0c 5~10 Mb\u4ee5\u4e0b\u7684CNV\u4e3a50.00%\uff0c 10 Mb\u4ee5\u4e0a\u7684CNV\u4e3a27.27%\u3002\u5176\u4ed6\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u75c5\u4f8b\u517146\u4f8b\uff0c\u5305\u62ec3\u4f8b\u771f\u9633\u6027\u300129\u4f8b\u5047\u9633\u6027\u548c14\u4f8b\u4e0d\u660e\u75c5\u4f8b\u3002\u5176\u4ed6\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027PPV\u4e3a9.38%\u3002\u5728\u5176\u4ed6\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u4e2d\uff0cChr7\u7684\u975e\u6574\u500d\u6027\u662f\u6700\u5927\u7684\u4e00\u7ec4\u3002NIPT\u9884\u6d4b\u7684Chr7\u7684\u975e\u6574\u500d\u6027\u90fd\u662f7\u4e09\u4f53\uff0c\u4f46\u6240\u6709\u786e\u8ba4\u7684\u60a3\u8005 (\u603b\u6570\u4e3a9) \u88ab\u8bc1\u5b9e\u4e3a\u5047\u9633\u6027 (\u88683\u548c\u88684) \u3002<\/p>\n\n<p>\u6839\u636e\u6000\u5b55\u7279\u6027\u7684PPV\u7684\u5dee\u5f02\u3000\u6839\u636e\u6000\u5b55\u7279\u6027\u7684NIPT\u7684PPV\u7684\u5dee\u5f02\u5982\u88685\u6240\u793a\u3002T21\u603bPPV\u4e3a79.23%\uff0c\u5b55\u4ea7\u5987T21\u80ce\u513fPPV\u4e3a89.29%\uff0c\u5728\u8840\u6e05\u5b66\u7b5b\u67e5\u7684\u9ad8\u5371\u4eba\u7fa4\u5982\u4e0b<\/p>\n<\/section>\n\n\n<section class=\"note_table table_2\">\n<h3><span class=\"ez-toc-section\" id=\"%E8%A1%A82%E6%97%A0%E5%88%9B%E4%BA%A7%E5%89%8D%E6%A3%80%E6%9F%A5_NIPT_%E6%9F%93%E8%89%B2%E4%BD%93%E9%9D%9E%E6%95%B4%E5%80%8D%E6%80%A7%E7%9A%84%E8%A1%A8%E7%8E%B0\"><\/span>\u88682\u65e0\u521b\u4ea7\u524d\u68c0\u67e5 (NIPT) \u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684\u8868\u73b0<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>\u9633\u6027<\/th><th>\u771f\u9633\u6027<\/th><th>\u5047\u9633\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>\u5176\u4ed6<br class=\"sponly\">\u67d3\u8272\u4f53<br class=\"sponly\">\u975e\u6574\u500d\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>\u603b\u8ba1<\/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\u9633\u6027\u3001FP\u5047\u9633\u6027\u3001PPV\u9633\u6027\u9884\u6d4b\u503c\u3001SCA\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u3001CNV\u590d\u5236\u6570\u53d8\u5f02<\/p>\n<\/section>\n\n<section>\n<p>86.67%\uff0c\u8840\u6e05\u5b66\u7b5b\u67e5\u7ec4\u7684\u9ad8\u5371\u56e0\u7d20\u4e3a71.74%, NT\u7ec4\u589e\u52a0NIPT\u7684PPV\u6700\u9ad8,\u4e3a100%\u3002\u540c\u6837\uff0c NT\u589e\u52a0\u7ec4\u7684PPV\u5728SCA\u80ce\u513f\u7684\u9884\u6d4b\u4e2d\u4e5f\u662f\u6700\u9ad8\u7684\u3002\u503c\u5f97\u6ce8\u610f\u7684\u662f\uff0c\u5728\u80ce\u513fT18\u80ce\u513f\u7684PPV\u4e2d\uff0c\u57fa\u4e8eB-\u8d85\u58f0\u6ce2\u7684\u80ce\u513f\u7ed3\u6784\u5f02\u5e38\u3001NT\u7ec4\u7684\u589e\u52a0\u4ee5\u53ca\u8840\u6e05\u5b66\u7b5b\u9009\u7684\u9ad8\u98ce\u9669\u5168\u90e8\u4e3a100%,\u800c\u5728\u80ce\u513fT13\u4ee5\u53caCNV\u7684\u9884\u6d4b\u4e2d,\u57fa\u4e8eB-\u8d85\u58f0\u6ce2\u7684\u8840\u6e05\u5b66\u7b5b\u9009\u7ec4\u4ee5\u53ca\u80ce\u513f\u7ed3\u6784\u5f02\u5e38\u7684\u9ad8\u98ce\u9669\u7684PPV\u5206\u522b\u6700\u9ad8\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>\u5728\u8fc7\u53bb\u51e0\u5e74\u4e2d\uff0c NIPT\u5e7f\u6cdb\u7528\u4e8eT21\u3001T18\u548cT13\u7684\u4ea7\u524d\u7b5b\u67e5\u3002\u7136\u800c\uff0c\u5230\u76ee\u524d\u4e3a\u6b62\uff0c\u4ecd\u7136\u6ca1\u6709\u8fdb\u884c\u5927\u89c4\u6a21\u7684\u4e34\u5e8a\u8bd5\u9a8c\uff0c\u91cd\u70b9\u662f\u4e9a\u6162\u6027\u83ab\u7d22\u59c6\u590d\u5236\u7a81\u53d8 (CNV) \u7684\u6548\u7387,\u5176\u5927\u5c0f\u901a\u5e38\u5c0f\u4e8e5Mb [8,9] \u3002\u6b64\u5916\uff0c\u4e34\u5e8a\u8868\u73b0\u8fd8\u5b58\u5728\u4e00\u4e9b\u95ee\u9898[10\u300111]\u3002\u56e0\u6b64\uff0c\u6211\u4eec\u5e0c\u671b\u672c\u7814\u7a76\u5305\u62ec42,910\u4f8b\uff0c\u4e3a\u8fd9\u4e9b\u95ee\u9898\u63d0\u4f9b\u6570\u636e\u652f\u63f4\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%8ACNV%E5%8F%8A%E5%85%B6%E4%BB%96%E6%9F%93%E8%89%B2%E4%BD%93%E9%9D%9E%E6%95%B4%E5%80%8D%E6%80%A7%E7%9A%84%E5%A4%A7%E5%B0%8F%E5%92%8C%E6%95%B0%E9%87%8F\"><\/span>\u88683 \u5404\u67d3\u8272\u4f53\u4e0aCNV\u53ca\u5176\u4ed6\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684\u5927\u5c0f\u548c\u6570\u91cf<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>\u603b\u8ba1<\/th><\/tr>\n<\/thead>\n<tbody>\n<tr><th rowspan=\"3\">CNV<br>\u7684\u957f\u5ea6<\/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>\u7684\u6570\u91cf<\/th><th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a><br>\u9633\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\u9633\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\">\u5047\u9633\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\u786e\u8ba4<\/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\">\u5176\u4ed6<br>\u67d3\u8272\u4f53<br>\u975e\u6574\u500d\u6027<\/th><th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a><br>\u9633\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\u9633\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\">\u5047\u9633\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\u786e\u8ba4<\/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\">\u53ef\u4ee5\u6a2a\u5411\u6ed1\u52a8<\/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%E3%80%80%E5%AF%B9%E5%BA%94CNV%E5%B0%BA%E5%AF%B8%E7%9A%84PPV\"><\/span>\u88684\u3000\u5bf9\u5e94CNV\u5c3a\u5bf8\u7684PPV<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<table>\n<tbody><tr><th>CNV\u7684\u5927\u5c0f<\/th><td>\u22645Mb<\/td><td>5\uff5e10Mb<\/td><td>&gt;10Mb<\/td><td>\u603b\u8ba1<\/td><\/tr>\n<tr><th>NIP\u9633\u6027<\/th><td>37<\/td><td>17<\/td><td>55<\/td><td>109<\/td><\/tr>\n<tr><th>\u771f\u9633\u6027<\/th><td>5<\/td><td>6<\/td><td>9<\/td><td>20<\/td><\/tr>\n<tr><th>\u5047\u9633\u6027<\/th><td>19<\/td><td>6<\/td><td>24<\/td><td>49<\/td><\/tr>\n<tr><th>\u672a\u786e\u8ba4<\/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>\u5728\u8fd9\u9879\u7814\u7a76\u4e2d\uff0c\u4f7f\u7528\u9633\u6027\u9884\u6d4b\u503c (PPV) \u6765\u8bc4\u4f30NIPT\u3002T21\u7684PPV\u4e3a79.23%\uff0c T18\u3001T13\u4e3a54.84%\u300113.79%\u300133.04%\u3002\u6b64\u5916\uff0c\u8fd8\u5206\u6790\u4e86\u5176\u4ed6\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u548cCNV\u7684PPV\u3002\u5176\u4ed6\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684PPV\u4e3a9.38%\uff0c CNV\u4e3a28.99%\u3002\u6700\u8fd1\u7684\u7814\u7a76\u8868\u660e\uff0c T21\u7684PPV\u8303\u56f4\u4e3a65~94%\uff0c T18\u4e3a47~85%\uff0c T13\u4e3a12~62% [12~14] \u3002\u5c5e\u4e8e\u8fd9\u4e2a\u8303\u56f4\u3002\u6709\u8da3\u7684\u662f\uff0c CNV\u7684PPV\u4e3a28.99%\uff0c\u660e\u663e\u9ad8\u4e8eT13.\u3002\u5728\u8fc4\u4eca\u4e3a\u6b62\u7684\u4e34\u5e8a\u68c0\u9a8c\u7814\u7a76\u4e2d,\u7279\u5f02\u6027MMS\u7684\u68c0\u6d4b\u7ed3\u679c\u5b58\u5728\u5dee\u5f02,\u9633\u6027\u9884\u6d4b\u503c (PPV) \u4ec5\u4e3a\u4f4e~\u4e2d\u5ea6 [9] \u3002<br>\n\u6700\u8fd1\u63d0\u51fa\u4e86\u4e00\u79cd\u66f4\u5bbd\u677e\u7684\u6307\u5357,\u5176\u5141\u8bb8\u5bf9\u5e74\u8f7b\u5973\u6027\u5b9a\u671f\u8fdb\u884cMMS\u7b5b\u67e5,\u5176\u4e2d\u5168\u5e38\u67d3\u8272\u4f53\u5168\u57df\u90e8\u5206\u7f3a\u5931\u6bd4\u975e\u6574\u500d\u6027\u66f4\u9891\u7e41\u5730\u53d1\u751f [15] \u3002\u6839\u636e\u8fd9\u9879\u9488\u5bf942,000\u591a\u540d\u5b55\u5987\u7684\u56de\u987e\u6027\u7814\u7a76\u7ed3\u679c\uff0c NIPT\u663e\u793a\u4e86\u9002\u7528\u4e8e\u4e2d\u67a2\u795e\u7ecf\u7cfb\u7edf\u5f15\u8d77\u7684MMS\u7684\u7b5b\u9009\u65b9\u6cd5\u7684\u7279\u5f81\u3002\u5728\u672c\u7814\u7a76\u4e2d\uff0c\u5bf9\u4e8e5~10 Mb\u4ee5\u5185\u7684CNV, PPV\u662f\u6700\u9ad8\u7684 (50.00%) ,\u5bf9\u4e8e5 Mb\u4ee5\u4e0b\u7684CNV, PPV\u662f\u6700\u4f4e\u7684 (20.83%) \u3002Liang\u7684\u8bba\u6587 (\u53c2\u8003\u6587\u732e) [9] \uff0c CNVs>10 Mb (32%) \u548cCNVs<10 Mb (19%) \u7684PPV\u4e5f\u8f83\u4f4e\uff0c\u4f46\u662f\u6709\u6548,\u8868\u660e\u7528\u4e8e\u5168\u57fa\u56e0\u7ec4\u80ce\u513fCNVs\u7684\u6f5c\u5728\u7b5b\u9009\u7684\u68c0\u67e5\u5177\u6709\u8db3\u591f\u7684\u7075\u654f\u5ea6\u548c\u7279\u5f02\u6027\u3002PPV\u4e0d\u4ec5\u53d6\u51b3\u4e8e\u68c0\u6d4b\u7684\u654f\u611f\u6027\u548c\u7279\u5f02\u6027\uff0c\u8fd8\u53d6\u51b3\u4e8e\u75be\u75c5\u7684\u60a3\u75c5\u7387 [16] \u3002\u5728\u672c\u7814\u7a76\u4e2d\uff0c\u4f4e\u4e8e10 Mb\u7684CNV\u7684PPV\u4e3a31% (\u6570\u636e\u672a\u5728\u8868\u4e2d\u663e\u793a\uff0c PPV= (5+6) \/ [ (5+) ] \u3002<\/p>\n\f\n<p>6)+19+6) ] \u8fdc\u8fdc\u9ad8\u4e8e\u6881\u5149\u70c8\u7684\u8bba\u6587\u3002\u6b64\u5916\uff0c\u5728\u4ee5\u524d\u7684\u7814\u7a76\u4e2d\uff0c CNV\u7684\u603bPPV\u4e3a9.2% [17] \uff0c\u672c\u7814\u7a76\u7684PPV\u8fdc\u8fdc\u9ad8\u4e8e\u6b64\u3002<br>\n\u5176\u4ed6\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684PPV\u4f4e\u81f39.38%\uff0c\u4e0eLiang\u7684\u8bba\u6587\u4e2d\u6240\u62a5\u544a\u7684\u76f8\u540c (\u53c2\u8003\u6587\u732e) \u3002[9] ) .\u8fd9\u662f\u56e0\u4e3a\u8fd9\u4e9baneu-\u591a\u500d\u4f53\u4e0d\u662f\u5f88\u591a\u5e76\u4e14\u5176\u4e2d\u8bb8\u591a\u5177\u6709\u9ad8\u7684\u5c40\u90e8\u80ce\u76d8\u5d4c\u5408\u4f53 (CPM) \u7387\u3002NIPT\u4f7f\u7528\u65e0\u7ec6\u80de\u80ce\u513fDNA\u8fdb\u884c\uff0c\u5e76\u4e14\u8ba4\u4e3a\u6bcd\u4f53\u5faa\u73af\u4e2d\u7ec6\u80de-\u80ce\u513fDNA\u7684\u4e3b\u8981\u6765\u6e90\u662f\u6765\u81ea\u7ec6\u80de-\u6210\u8425\u517b\u7ec6\u80de [18] \u7684\u80ce\u76d8\u7ec6\u80de\u7684\u51cb\u4ea1\uff0c\u5176\u4e0d\u4e00\u5b9a\u4ee3\u8868\u80ce\u513f\u3002\u4ec5\u80ce\u76d8\u67d3\u8272\u4f53\u5f02\u5e38\u800c\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u60c5\u51b5\u79f0\u4e3aCPM [19] \uff0c\u5176\u53d1\u751f\u7387\u7ea6\u4e3a1~2% [20] .\u3002NIPT\u662f\u4e00\u79cd\u7b5b\u67e5\u68c0\u67e5\u3002 \u5bf9\u4e8eNIPT\u7684\u9884\u5148\u54a8\u8be2\uff0c\u6240\u9009\u62e9\u7684\u5973\u6027\u5e94\u8be5\u88ab\u5145\u5206\u544a\u77e5\u51c6\u786e\u6027\u3001\u53ef\u9760\u6027\u3001\u5047\u9633\u6027\u548c\u5047\u9634\u6027\u7387\u3002\u54a8\u8be2\u540e\uff0c\u5f3a\u70c8\u5efa\u8bae\u6839\u636e\u76ee\u524d\u7684NIPT\u6307\u5357\u901a\u8fc7\u4fb5\u5165\u6027\u4ea7\u524d\u8bca\u65ad\u786e\u8ba4\u6240\u6709\u9633\u6027\u53d1\u73b0 [21] \u3002\u6b64\u5916\uff0c\u6240\u6709\u88ab\u6000\u7591\u60a3\u6709\u81f4\u75c5\u6216\u6f5c\u5728\u81f4\u75c5\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u80ce\u513f\u643a\u5e26\u8005\u90fd\u8ba1\u5212\u63a5\u53d7\u9057\u4f20\u54a8\u8be2\u8bfe\u7a0b,\u4ee5\u8ba8\u8bba\u6000\u5b55\u7ba1\u7406\u7684\u9009\u62e9\u3002<br>\n\u6b64\u5916\uff0c\u6839\u636e\u6000\u5b55\u7279\u6027\u5bf9NIPT\u7684\u4e0d\u540cPPV\u8fdb\u884c\u4e86\u8fdb\u4e00\u6b65\u7684\u7814\u7a76,\u672c\u90e8\u5206\u7684\u7ed3\u679c\u9700\u8981\u66f4\u591a\u7684\u4e34\u5e8a\u6570\u636e\u7684\u652f\u6301\u3002\u4e0d\u540c\u6000\u5b55\u7279\u6027\u8868\u73b0\u51fa\u4e0d\u540c\u7684PPV, NIPT\u7684PPV\u5728T21\u4e2d\u6700\u9ad8,\u800c\u5728\u5176\u4ed6\u975e\u6574\u500d\u6027\u4e2d\u5219\u4f4e\u5f97\u591a [22] \u3002\u5b55\u4ea7\u5987\u7684\u5e74\u9f84\u8fc7\u9ad8 (\u901a\u5e38>35\u5c81) \u662fT21\u7684\u5371\u9669\u56e0\u7d20\u3002\u56e0\u6b64\uff0c\u9ad8\u9f84\u4ea7\u5987PPV\u660e\u663e\u9ad8\u4e8e\u65e0\u4e34\u5e8a\u6307\u5f81\u7684\u4eba\u7fa4\u3002\u6b64\u5916\uff0c\u8840\u6e05\u5b66\u7b5b\u67e5\u7ec4\u7684\u9ad8\u98ce\u9669PPV\u9ad8\u4e8e\u4e25\u91cd\u98ce\u9669\u7ec4\uff0c\u8fd9\u4e0eYu\u7684\u8bba\u6587 [23] \u4e00\u81f4\u3002<\/p>\n<\/section>\n\n\n<section class=\"note_table table_5\">\n<h3><span class=\"ez-toc-section\" id=\"%E8%A1%A85_%E6%A0%B9%E6%8D%AE%E6%80%80%E5%AD%95%E7%89%B9%E6%80%A7%E4%B8%8D%E5%90%8C%E7%9A%84PPV\"><\/span>\u88685 \u6839\u636e\u6000\u5b55\u7279\u6027\u4e0d\u540c\u7684PPV<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<table>\n<thead>\n<tr>\n<th colspan=\"6\">\u4e34\u5e8a\u4e0a\u7684\u7279\u5f81<\/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>\u5176\u4ed6\u67d3\u8272\u4f53<br class=\"sponly\">\u975e\u6574\u500d\u6027 PPV PPV (%)<\/th>\n<th>CNV PPV (%)<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td colspan=\"6\">B-\u8d85\u58f0\u6ce2\u68c0\u67e5\u663e\u793a\u80ce\u513f\u7ed3\u6784\u5f02\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\">\u5176\u4ed6\u7684a<\/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\u7b5b\u67e5\u7684\u9ad8\u98ce\u9669<\/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\u7b5b\u67e5\u7684\u4e25\u91cd\u98ce\u9669<\/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\">\u9ad8\u9f84\u4ea7\u5987 (\u226535\u5c81)<\/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\">\u65e0\u4e34\u5e8a\u6307\u5f81<\/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\">\u603b\u8ba1<\/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\u8868\u793a\u65e0\u6570\u636e<br>\n\u4ecb\u5165\u624b\u672f\u7981\u5fcc\u8005:\u518d\u6b21\u624b\u672f\u611f\u67d3\uff0c\u524d\u7f6e\u80ce\u76d8\uff0c\u80ce\u76d8\u51fa\u8840\uff0c\u4e0d\u826f\u598a\u5a20\u53f2\u3002<\/p>\n<\/section>\n\n\n<section>\n\u53e6\u4e00\u65b9\u9762\uff0c\u9ad8\u9f84\u4ea7\u5987\u53ef\u80fd\u4e0d\u662fT18\u548cT13\u7684\u98ce\u9669\u6307\u6807\u3002\u540c\u6837\u5730,\u4e0e\u975e\u6574\u500d\u6027\u4e0d\u540c,\u6700\u5e38\u89c1\u7684CNV\u4e0e\u6bcd\u4eb2\u7684\u5e74\u9f84\u65e0\u5173,\u56e0\u6b64\u6bcd\u4eb2\u5e74\u9f84\u8f83\u5927\u65f6\u7684PPV\u6ca1\u6709\u663e\u793a\u8f83\u9ad8\u7684\u503c\u3002\n<br>\nCNV\u8d8a\u6765\u8d8a\u88ab\u8ba4\u4e3a\u662f\u4eba\u7c7b\u75be\u75c5\u7684\u91cd\u8981\u81f4\u75c5\u56e0\u7d20\uff0c\u5176\u5b58\u5728\u4e8e\u5927\u7ea61.7%\u7684\u7ed3\u6784\u6b63\u5e38\u7684\u6000\u5b55\u4e2d [24] \u3002\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790 (CMA) \u662f\u7528\u4e8e\u68c0\u6d4b\u8089\u773c\u4e0d\u53ef\u89c1\u7684\u5c0f\u67d3\u8272\u4f53\u7f3a\u5931\u6216\u91cd\u590d\u7684\u5f3a\u5927\u5de5\u5177,\u5e76\u4e14\u88ab\u63a8\u8350\u4f5c\u4e3a\u9488\u5bf9\u7279\u5b9a\u7efc\u5408\u75c7\u7684\u4e00\u90e8\u5206\u7684Pa\u76f8\u5173\u75c5\u75c7\u7684\u521d\u6b65\u8bca\u65ad\u5de5\u5177 [26,27] \u3002\u7136\u800c\uff0c CMA\u6709\u8bb8\u591a\u9650\u5236\u3002CMA\u7684\u53d6\u6837\u9700\u8981\u6709\u4fb5\u5165\u6027\u7684\u68c0\u67e5,\u56e0\u4e3a\u4fb5\u5165\u6027\u68c0\u67e5\u53ef\u4ee5\u786e\u5b9a\u4e0e\u6d41\u4ea7\u3001\u6d41\u4ea7\u3001\u5bab\u5185\u611f\u67d3\u7b49\u98ce\u9669\u76f8\u5173 [28] [29] \u6216\u672a\u77e5\u7684\u53d8\u5f02\u4f53,\u6709\u4e9b\u5987\u5973\u53ef\u80fd\u62d2\u7edd\u3002NIPT\u68c0\u6d4b\u5230\u4e9a\u6162\u6027\u83ab\u7d22\u59c6\u590d\u5236\u53d8\u4f53 (CNV) \u5728\u4e00\u4e9bMMS [30] \u4e2d\u8868\u73b0\u826f\u597d,\u5e76\u4e14\u5728\u6700\u8fd1\u4e3aMMS\u6269\u5c55\u7684NIPT\u4e2d\u5b58\u5728\u76f8\u5f53\u6570\u91cf\u7684\u91cd\u590d\u7aef\u53e3 [8,9,31] \u3002\u7136\u800c\uff0c NIPT\u662f\u4e00\u79cd\u7b5b\u67e5\u68c0\u67e5,\u5176\u51c6\u786e\u7684\u68c0\u51fa\u7387\u548c\u8bb8\u591a\u4e34\u5e8a\u6807\u672c\u7684\u5047\u9633\u6027\u7387\u4ecd\u7136\u9700\u8981\u4e34\u5e8a\u9a8c\u8bc1\u3002<br>\n\u5728\u672c\u7814\u7a76\u4e2d\uff0c\u8ffd\u8e2a\u7ed3\u679c\u4e3a\u9634\u6027\u3002\u6839\u636e\u4e2d\u534e\u4eba\u6c11\u5171\u548c\u56fd\u5065\u5eb7\u59d4\u5458\u4f1a\u6307\u5357\uff0c\u968f\u8bbf\u5728\u5206\u5a29\u540e12\u5468\u5f00\u59cb\u3002\u540e\u7eed\u968f\u8bbf\u5185\u5bb9\u5e94\u5305\u62ec\u53d7\u8bd5\u8005\u7684\u6000\u5b55\u7ed3\u679c\u548c\u65b0\u751f\u513f\u7684\u5065\u5eb7\u72b6\u51b5\u3002\u65b0\u751f\u513f\u7684\u4e3b\u8981\u89c2\u5bdf\u5185\u5bb9\u662f\u65b0\u751f\u513f\u662fT21\u3001T18\u6216T13\u60a3\u8005\u3002\u6211\u4eec\u7684\u8ffd\u8e2a\u7814\u7a76\u4ece\u51fa\u751f\u540e3\u4e2a\u6708\u5f00\u59cb,\u4e25\u683c\u9075\u5faa\u672c\u7814\u7a76\u7684\u56fd\u5bb6\u6307\u5357\u3002\u5728\u8ffd\u8e2a\u968f\u8bbf\u671f\u95f4,\u7236\u6bcd\u88ab\u544a\u77e5\u6709\u5148\u5929\u6027\u7f3a\u9677\u7684\u65b0\u751f\u513f\u5e94\u8be5\u8fdb\u4e00\u6b65\u8fdb\u884c\u9057\u4f20\u8bca\u65ad\u3002\u53e6\u5916\uff0c\u5bf9\u4e8eCNV,\u8003\u5bdf\u4e86\u9633\u6027\u7ed3\u679c\uff0c\u4f46\u5e0c\u671b\u672c\u7814\u7a76\u80fd\u591f\u63d0\u4f9bNIPT\u4f5c\u4e3a\u975e\u6574\u500d\u6027\u53caCNV\u7684\u7b5b\u9009\u8bd5\u9a8c\u7684\u5408\u7406\u6027\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E7%BB%93%E8%AE%BA\"><\/span>\u7ed3\u8bba<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u603b\u800c\u8a00\u4e4b,\u672c\u7814\u7a76\u6d89\u53ca\u5177\u6709\u4e0d\u540c\u4e34\u5e8a\u7279\u5f81\u7684\u5b55\u5987\u7684\u5927\u89c4\u6a21\u524d\u77bb\u6027\u7fa4\u4f53\u3002\u8be5\u6570\u636e\u53ef\u80fd\u5bf9\u4e8e\u8bc1\u660e\u4f7f\u7528NIPT\u5206\u6790\u4e0d\u4ec5\u9002\u7528\u4e8e\u4e00\u822c\u7684\u5168\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\uff0c\u800c\u4e14\u9002\u7528\u4e8eCNV\u4e5f\u662f\u91cd\u8981\u7684\u3002\u7136\u800c\uff0c\u8fd9\u79cd\u6700\u65b0\u7684\u65b9\u6cd5\u4ecd\u5904\u4e8eCNV\u7684\u65e9\u671f\u9636\u6bb5\u3002\u5728\u4e34\u5e8a\u5b9e\u8df5\u4e2d\uff0c\u4ecd\u9700\u8fdb\u884c\u51c6\u786e\u7684\u9664\u83cc\u7387\u548c\u5047\u9633\u6027\u7387\u7684\u4e34\u5e8a\u9a8c\u8bc1\u8bd5\u9a8c\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E6%9D%90%E6%96%99%E5%92%8C%E6%96%B9%E6%B3%95\"><\/span>\u6750\u6599\u548c\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<h4><span class=\"ez-toc-section\" id=\"%E6%82%A3%E8%80%85\"><\/span>\u60a3\u8005<span class=\"ez-toc-section-end\"><\/span><\/h4>\n<p>\u8fde\u7eed\u91c7\u96c6\u4e86\u5b55\u5987\u30022015\u5e744\u6708\u81f32018\u5e7412\u6708\uff0c\u7b14\u8005\u6765\u5230\u5b81\u6ce2\u5973\u5b50\u513f\u7ae5\u533b\u9662\u8fdb\u884c\u4ea7\u524d\u68c0\u67e5\u3002\u5171\u62db\u52df\u4e8642,910\u540d\u5973\u6027\u3002\u5728\u62bd\u8840\u4e4b\u524d\uff0c\u4ece\u6bcf\u4e2a\u53c2\u4e0e\u8005\u90a3\u91cc\u83b7\u5f97\u4e86\u7b7e\u540d\u540c\u610f\u3002\u9009\u62e9\u6807\u51c6\u4e3a (1) 12+0~26+6\u4e4b\u95f4\u7684\u6000\u5b55\u65f6\u95f4, (2) \u5355\u4e00\u6000\u5b55,\u4ee5\u53ca (3) \u4f53\u91cd\u6307\u6570 (BMI) <100\u3002\u6392\u9664\u6807\u51c6\u4e3a: (1) \u67d3\u8272\u4f53\u5f02\u5e38\u6216\u6709\u5f02\u5e38\u7684\u5b55\u5987; (2) \u591a\u80ce\u6000\u5b55; (3) \u63a5\u53d7\u5e72\u7ec6\u80de\u7597\u6cd5\u53ca\u79fb\u690d\u624b\u672f\u7684\u5b55\u5987; (4) 1\u5e74\u5185\u7ed9\u4e88\u540c\u79cd\u8840\u6db2\u5236\u5242; (5) 4\u5468\u5185\u63a5\u53d7\u514d\u75ab\u7597\u6cd5\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%AD%9B%E6%9F%A5%E5%92%8C%E8%B6%85%E5%A3%B0%E6%B3%A2%E6%A3%80%E6%9F%A5\"><\/span>\u8840\u6e05\u5b66\u7b5b\u67e5\u548c\u8d85\u58f0\u6ce2\u68c0\u67e5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u7ed3\u540811\u5468\u81f313\u5468+6\u7684\u6000\u5b55\u65e9\u671f\u7b5b\u9009,\u68c0\u6d4b\u8840\u6e05\u5b66\u7b5b\u9009\u8bd5\u9a8c:\u7528\u65f6\u95f4\u5206\u8fa8\u514d\u75ab\u8367\u5149\u6d4b\u5b9a\u6cd5\u68c0\u6d4bAFP,\u6e38\u79bbbHCG\u548c\u6e38\u79bbE3\u7684\u6d53\u5ea6\u3002NT\u7531\u6839\u636e\u80ce\u513f\u533b\u5b66\u57fa\u91d1\u4f1a\u534f\u8bae [32] \u8bad\u7ec3\u7684\u8d85\u58f0\u6ce2\u68c0\u67e5\u5458\u6d4b\u91cf\u3002\u98ce\u9669\u503c\u7531\u751f\u547d\u5468\u671f\u8f6f\u4ef6 (4.0) \u8ba1\u7b97:\u9ad8\u98ce\u9669\uff0c T 21>1\/300, T 18>1\/350;\u4e2d\u7b49\u98ce\u9669\uff0c T 21 1\/300\u81f31\/1000, T 18 1\/350\u81f31\/1000;\u4ea7\u5987\u5e74\u9f84 (AMA) \uff0c\u4ea7\u5987\u5e74\u9f84\u226535\u5c81 [23];\u548cNT\u22653 mm\u88ab\u5b9a\u4e49\u4e3aNT [33] \u589e\u52a0\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E5%BA%8F%E5%88%97%E6%B5%8B%E5%AE%9A\"><\/span>\u5e8f\u5217\u6d4b\u5b9a<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u5728\u6000\u5b55\u5468\u9f84\u4e3a12+0~26+6\u5468\u7684\u4e59\u57fa-\u4e8c\u80fa\u56db\u4e59\u9178 (EDTA) \u7ba1\u4e2d\u91c7\u96c6\u6bcd\u4f53\u672b\u68a2\u8840 (5ml) \u3002\u62bd\u8840\u540e\u7acb\u5373\u57284\u00b0C\u4e0b\u4fdd\u5b58\u3002\u6839\u636e\u4e0a\u8ff0\u63cf\u8ff0 (\u53c2\u8003\u6587\u732e) \uff0c\u4f7f\u75282\u6b65\u79bb\u5fc3\u65b9\u6848\u57288\u5c0f\u65f6\u5185\u5206\u79bb\u8840\u6d46\u3002[6] ) .\u6839\u636e\u5148\u524d\u7684\u7814\u7a76 (\u53c2\u8003\u6587\u732e) \u8fdb\u884c\u65e0\u7ec6\u80deDNA\u63d0\u53d6\uff0c\u6587\u5e93\u6784\u5efa\uff0c\u6d4b\u5e8f\u548c\u751f\u7269\u4fe1\u606f\u5b66\u5206\u6790\u3002[6] ) .\u5bf9\u4e8e\u4e0d\u542b\u80ce\u513f\u7684DNA\u7247\u6bb5\u8fdb\u884c\u9ad8\u901a\u91cf\u6d4b\u5e8f,\u4f7f\u7528JingXinBioelectronSeq4000\u7cfb\u7edf (CFDA\u6ce8\u518c\u8bb8\u53efNO) \u300220153400309) \u534a\u5bfc\u4f53\u6d4b\u5e8f\u5668\u3002\u5c06\u6d4b\u5e8f\u94c5\u8fc7\u6ee4\u5e76\u4e0e\u4eba\u53c2\u7167\u57fa\u56e0\u7ec4 (hg19) \u5bf9\u9f50\u3002\u7ed3\u5408GC\u6821\u6b63\u548cZ\u8bc4\u5206\u65b9\u6cd5\u6765\u786e\u5b9a\u80ce\u513f\u7684\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u3002\u5728\u6b64, Z\u5f97\u5206\u7684\u7edd\u5bf9\u503c\u5927\u4e8e3\u7684\u5404\u67d3\u8272\u4f53\u7528\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u6216\u5168\u5e38\u67d3\u8272\u4f53\u5168\u533a\u57df\u90e8\u5206\u7f3a\u5931\u3001\u91cd\u590d\u75be\u75c5\u8fdb\u884c\u6807\u8bb0\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%E5%92%8C%E7%BE%8A%E8%86%9C%E7%A9%BF%E5%88%BA%E6%9C%AF\"><\/span>\u6838\u578b\u5206\u6790\u548c\u7f8a\u819c\u7a7f\u523a\u672f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u5efa\u8baeNIPT\u7ed3\u679c\u9633\u6027\u7684\u5987\u5973\u5728\u7f8a\u6c34\u4e2d\u8fdb\u884c\u6838\u578b\u5206\u6790\u4ee5\u8fdb\u4e00\u6b65\u9a8c\u8bc1\u3002\u7f8a\u819c\u7a7f\u523a\u672f\u6309\u5e38\u89c4\u8fdb\u884c\u3002\u6838\u578b\u5206\u6790\u4f9d\u636eInternational System forHu-manCytogenetic Nomenclature Guidelines [34] \u8fdb\u884c\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E9%98%B4%E6%80%A7%E7%97%85%E4%BE%8B%E7%9A%84%E8%BF%BD%E8%B8%AA%E8%B0%83%E6%9F%A5\"><\/span>\u9634\u6027\u75c5\u4f8b\u7684\u8ffd\u8e2a\u8c03\u67e5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u5bf9NIPT\u9634\u6027\u75c5\u4f8b\u8fdb\u884c\u4e86\u8ffd\u8e2a\u8c03\u67e5\u3002\u6839\u636e\u4e2d\u534e\u4eba\u6c11\u5171\u548c\u56fd\u56fd\u5bb6\u5065\u5eb7\u59d4\u5458\u4f1a (National Health Committee) \u7684\u4efb\u52a1\u6307\u5357\uff0c\u5a74\u513f\u51fa\u751f\u540e12\u5468\u5f00\u59cb\u8fdb\u884c\u540e\u7eed\u89c2\u5bdf\u3002\u8ffd\u8e2a\u5185\u5bb9\u5e94\u5305\u62ec\u53d7\u8bd5\u8005\u7684\u6000\u5b55\u7ed3\u679c\u548c\u65b0\u751f\u513f\u7684\u5065\u5eb7\u72b6\u51b5\u3002\u65b0\u751f\u513f\u7684\u4e3b\u8981\u89c2\u5bdf\u5305\u62ec\u65b0\u751f\u513f\u662fT21\u3001T18\u6216T13\u60a3\u8005\u3002\u6211\u4eec\u7684\u8ddf\u8e2a\u8c03\u67e5\u59cb\u4e8e\u51fa\u751f\u540e3\u4e2a\u6708,\u5e76\u4e25\u683c\u9075\u5faa\u672c\u7814\u7a76\u7684\u56fd\u5bb6\u6307\u5357\u3002\u5728\u8ffd\u8e2a\u968f\u8bbf\u671f\u95f4,\u7236\u6bcd\u88ab\u544a\u77e5\u6709\u5148\u5929\u6027\u7f3a\u9677\u7684\u65b0\u751f\u513f\u5e94\u8be5\u8fdb\u4e00\u6b65\u8fdb\u884c\u9057\u4f20\u8bca\u65ad\u3002\u5206\u6790\u4e2d\u6392\u9664\u4e86\u65e0\u6cd5\u8ffd\u8e2a\u7684Pa-tient\u3002<\/p>\n<\/section>\n\n\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E7%BB%9F%E8%AE%A1%E5%88%86%E6%9E%90\"><\/span>\u7edf\u8ba1\u5206\u6790<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u4f7f\u7528SPSS 20.0\u8f6f\u4ef6\u8fdb\u884c\u7edf\u8ba1\u5206\u6790\u3002\u6d4b\u91cf\u6570\u636e\u4ee5\u5e73\u5747\u503c\u00b1\u6807\u51c6\u504f\u5dee (x) \u8868\u793a\u3002<br>\n\u00b1SD) \uff0c\u8ba1\u6570\u6570\u636e\u91c7\u7528\u7387 (%) \uff0c\u6b63\u9884\u6d4b\u503c=\u6b63\u6570\/\u5168\u90e8\u9633\u6027\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E7%BC%A9%E5%86%99\"><\/span>\u7f29\u5199<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>cfDNA:\u65e0\u7ec6\u80deDNA;CMA:\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790;CNV:\u62f7\u8d1d\u6570\u53d8\u5f02;MMS:\u5168\u5e38\u67d3\u8272\u4f53\u90e8\u5206\u7f3a\u5931\/\u91cd\u590d\u75be\u75c5;<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>:\u65e0\u521b\u4ea7\u524d\u68c0\u67e5;NT:\u9879\u90e8\u534a\u900f\u660e;PPV:\u9633\u6027\u9884\u6d4b\u503c<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E8%87%B4%E8%B0%A2\"><\/span>\u81f4\u8c22<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u65e0\u6cd5\u4f7f\u7528\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E4%BD%9C%E8%80%85%E7%9A%84%E8%B4%A1%E7%8C%AE\"><\/span>\u4f5c\u8005\u7684\u8d21\u732e<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u6240\u6709\u4f5c\u8005\u90fd\u53c2\u4e0e\u4e86\u8fd9\u9879\u7814\u7a76\u548c\u624b\u7a3f\u5236\u4f5c\u3002YC, QY\u548cXM\u6536\u96c6\u6240\u6709\u4e34\u5e8a\u6570\u636e\u5e76\u8fdb\u884c\u6240\u6709\u5206\u5b50\u9057\u4f20\u5b66\u5206\u6790\u3002WL\u53c2\u4e0e\u4e86\u6570\u636e\u5206\u6790\u5e76\u64b0\u5199\u4e86\u624b\u7a3f\u3002MH\u53c2\u4e0e\u5206\u5b50\u9057\u4f20\u5b66\u5206\u6790\u3002WL\u8bbe\u8ba1\u4e86\u8fd9\u9879\u7814\u7a76\uff0c\u8349\u62df\u5e76\u4fee\u8ba2\u4e86\u521d\u7a3f\u3002\u6240\u6709\u4f5c\u8005\u90fd\u8ba4\u53ef\u4e86\u6700\u7ec8\u7684\u6587\u7ae0\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E8%B5%84%E9%87%91%E7%AD%B9%E9%9B%86\"><\/span>\u8d44\u91d1\u7b79\u96c6<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u745e\u6c5f\u4fdd\u5065\u79d1\u6280\u8ba1\u5212 (\u7f16\u53f72018 KY 720)\n<\/p><\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E6%95%B0%E6%8D%AE%E5%92%8C%E8%B5%84%E6%96%99%E7%9A%84%E5%8F%AF%E8%8E%B7%E5%BE%97%E6%80%A7\"><\/span>\u6570\u636e\u548c\u8d44\u6599\u7684\u53ef\u83b7\u5f97\u6027<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u6839\u636e\u5408\u7406\u8981\u6c42\uff0c\u5f53\u524d\u7814\u7a76\u4e2d\u4f7f\u7528\u548c\/\u6216\u5206\u6790\u7684\u6570\u636e\u96c6\u53ef\u4ece\u4f5c\u8005\u5904\u83b7\u5f97\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E4%BC%A6%E7%90%86%E8%AE%A4%E5%8F%AF%E5%92%8C%E5%8F%82%E4%B8%8E%E5%90%8C%E6%84%8F\"><\/span>\u4f26\u7406\u8ba4\u53ef\u548c\u53c2\u4e0e\u540c\u610f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u8be5\u7814\u7a76\u5f97\u5230\u4e86\u5b81\u6ce2\u5987\u5973\u513f\u7ae5\u533b\u9662\u4f26\u7406\u59d4\u5458\u4f1a\u7684\u6279\u51c6\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E5%90%8C%E6%84%8F%E5%85%AC%E5%B8%83\"><\/span>\u540c\u610f\u516c\u5e03<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u4f5c\u8005\u58f0\u660e\u4ed6\u4eec\u6ca1\u6709\u4efb\u4f55\u5229\u76ca\u51b2\u7a81\uff0c\u5e76\u8868\u793a\u75c5\u4f8b\u62a5\u544a\u4e2d\u7684\u60a3\u8005\u540c\u610f\u62a5\u544a\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E5%88%A9%E7%9B%8A%E5%86%B2%E7%AA%81\"><\/span>\u5229\u76ca\u51b2\u7a81<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u4f5c\u8005\u58f0\u660e\u6ca1\u6709\u5229\u76ca\u51b2\u7a81\u3002<\/p>\n<\/section>\n\n<section>\n<h3><span class=\"ez-toc-section\" id=\"%E4%BD%9C%E8%80%85%E8%AF%A6%E7%BB%86%E4%BF%A1%E6%81%AF\"><\/span>\u4f5c\u8005\u8be6\u7ec6\u4fe1\u606f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>\u5b81\u6ce2\u5973\u5b50\u533b\u9662339\u53f7\uff0c\u4e2d\u56fd\uff0c\u5b81\u6ce2315010\u53f7\uff0c\u6d77\u5dde\u5b81\u6ce2\uff0c\u5f00\u901a\u88571\u53f7\uff0c\u5b81\u6ce2\u5987\u5973\u513f\u7ae5\u533b\u9662\uff0c\u67f3\u4ead\u8857\uff0c\u4e2d\u56fd\uff0c\u5b81\u6ce2315010\u53f7\u30022 CapitalBio Technology,\u4e2d\u56fd\uff0c\u5317\u4eac101111 3\u5317\u4eac\u6295\u8d44\u751f\u7269\u533b\u5b66\u5b9e\u9a8c\u5ba4\uff0c\u5317\u4eac101111,\u4e2d\u56fd\u3002<\/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.\u3001La\u3001\u80ce\u513fDNA\u5728\u6bcd\u4f53\u8840\u6d46\u548c\u8840\u6e05\u4e2d\u7684\u5b58\u5728\u3002 1997. 350(9076): p. 485-487.<\/li>\n<li>Minear, M.A., et al., Global 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Mezaespinoza, International system for \u4eba\u7ec6\u80de\u9057\u4f20\u5b66\u547d\u540d(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%E5%95%86%E6%B3%A8%E9%87%8A\"><\/span>\u51fa\u7248\u5546\u6ce8\u91ca<span class=\"ez-toc-section-end\"><\/span><\/h3>\n<p>Springer Nature\u5bf9\u516c\u5171\u5730\u56fe\u548c\u8bbe\u65bd\u5185\u7684\u8054\u76df\u4e2d\u7684\u7ba1\u8f96\u6743\u58f0\u660e\u662f\u4e2d\u7acb\u7684\u3002<\/p>\n<\/section>\n","protected":false},"excerpt":{"rendered":"\u5728 42,910 \u540d\u5177\u6709\u4e0d\u540c\u4e34\u5e8a\u7279\u5f81\u7684\u5355&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-cohort-study\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":898,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-45244","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/45244","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=45244"}],"version-history":[{"count":4,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/45244\/revisions"}],"predecessor-version":[{"id":118035,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/45244\/revisions\/118035"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/898"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=45244"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=45244"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=45244"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}