{"id":45243,"date":"2020-11-19T15:35:17","date_gmt":"2020-11-19T06:35:17","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/"},"modified":"2024-12-02T14:08:31","modified_gmt":"2024-12-02T05:08:31","slug":"ger-13607dna","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans","title":{"rendered":"\u5fb7\u56fd\u5355\u4e00\u673a\u6784\u80ce\u513f\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u68c0\u6d4b13,607\u4f8b\u5e38\u89c4\u75c5\u4f8b\u7cfb\u5217\u4e2d\u65e0\u7ec6\u80deDNA\u7684\u5206\u6790"},"content":{"rendered":"\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p>Heike Borth<sup>1<\/sup> \u30fb Anna Teubert<sup>2<\/sup> \u30fb Ralf Glaubitz<sup>2<\/sup> \u30fb Sarah Knippenberg<sup>2<\/sup> \u30fb Nargul Kutur<sup>1<\/sup> \u30fb Thomas Winkler<sup>1<\/sup> \u30fb Bernd Eiben<sup>1<\/sup><\/p>\n\n\n\n<p>\u53d7\u7406:2020\u5e744\u670822\u65e5\/\u53d7\u7406:2020\u5e7410\u670820\u65e5<br>\u00a9\u8457\u8005(2020\u5e74\u4ee3)<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E6%91%98%E8%A6%81\" >\u6458\u8981<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E7%9B%AE%E6%A0%87\" >\u76ee\u6807<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E6%96%B9%E6%B3%95\" >\u65b9\u6cd5<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E7%B5%90%E6%9E%9C\" >\u7d50\u679c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?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-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E5%85%B3%E9%94%AE%E5%AD%97\" >\u5173\u952e\u5b57<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E7%AE%80%E4%BB%8B\" >\u7b80\u4ecb<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E9%9B%BB%E5%AD%90%E8%A3%9C%E8%B6%B3%E8%B3%87%E6%96%99\" >\u96fb\u5b50\u88dc\u8db3\u8cc7\u6599<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?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-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E5%8F%97%E9%AA%8C%E8%80%85%E6%A3%80%E4%BD%93%E8%AF%A6%E7%BB%86%E4%BF%A1%E6%81%AF\" >\u53d7\u9a8c\u8005\/\u68c0\u4f53\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-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#VeriSeq_NIPT_Solution_v2%E5%88%86%E6%9E%90%E6%B3%95\" >VeriSeq NIPT Solution v2\u5206\u6790\u6cd5<\/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\/ger-13607dna\/?lang=zh-hans\/#%E7%BB%9F%E8%AE%A1\" >\u7edf\u8ba1<\/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\/ger-13607dna\/?lang=zh-hans\/#%E7%BB%93%E6%9E%9C\" >\u7ed3\u679c<\/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\/ger-13607dna\/?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-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E6%84%9F%E8%B0%A2\" >\u611f\u8c22<\/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\/ger-13607dna\/?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-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E8%B5%84%E9%87%91%E7%AD%B9%E9%9B%86\" >\u8d44\u91d1\u7b79\u96c6<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E9%81%B5%E5%AE%88%E8%81%8C%E4%B8%9A%E9%81%93%E5%BE%B7%E8%A7%84%E8%8C%83\" >\u9075\u5b88\u804c\u4e1a\u9053\u5fb7\u89c4\u8303<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?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-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E4%BC%A6%E7%90%86%E8%AE%A4%E5%8F%AF\" >\u4f26\u7406\u8ba4\u53ef<\/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\/ger-13607dna\/?lang=zh-hans\/#%E5%90%8C%E6%84%8F%E5%8F%82%E5%8A%A0\" >\u540c\u610f\u53c2\u52a0<\/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\/ger-13607dna\/?lang=zh-hans\/#%E3%82%AA%E5%BC%80%E6%94%BE%E5%AD%98%E5%8F%96\" >\u30aa\u5f00\u653e\u5b58\u53d6<\/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\/ger-13607dna\/?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-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/ger-13607dna\/?lang=zh-hans\/#%E5%87%BA%E7%89%88%E7%A4%BE%E7%AC%94%E8%AE%B0\" >\u51fa\u7248\u793e\u7b14\u8bb0<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%91%98%E8%A6%81\"><\/span><strong>\u6458\u8981<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%AE%E6%A0%87\"><\/span><strong>\u76ee\u6807<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>) \u662f\u68c0\u6d4b\u6bcd\u4f53\u8840\u6db2\u4e2d\u80ce\u513f\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684\u7075\u654f\u548c\u7279\u5f02\u7684\u65b9\u6cd5\u3002\u672c\u7814\u7a76\u7684\u76ee\u7684\u662f\u7814\u7a76\u57fa\u4e8e\u65b0\u578b\u914d\u5bf9\u672b\u7aef\u6d4b\u5e8f\u7684NIPT\u5206\u6790\u65b9\u6cd5\u5728\u5fb7\u56fd\u5355\u4e00\u673a\u678413,607\u4f8b\u6000\u5b55\u4e2d\u7684\u6027\u80fd\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%96%B9%E6%B3%95\"><\/span>\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f7f\u7528VeriSeq NIPT\u89e3\u51b3\u65b9\u6848v 2\u5206\u6790\u65b9\u6cd5\u5206\u6790\u6765\u81ea13,607\u540d\u4e4b\u524d\u63a5\u53d7\u8fc7NIPT\u7684\u5b55\u5987\u7684\u6837\u672c,\u4ee5\u786e\u5b9a\u5e38\u89c1\u80ce\u513f\u4e09\u4f53\u6027\u548c\u5355\u4f53\u6027X\u7684\u5b58\u5728,\u5e76\u8fdb\u884c\u540e\u7eed\u7814\u7a76\u4ee5\u786e\u5b9a\u4e34\u5e8a\u771f\u7406\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E6%9E%9C\"><\/span><strong>\u7d50\u679c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u572813,607\u4f8b\u4e2d\uff0c\u670913,509\u4f8b\u63a5\u53d7\u4e86NIPT\u7684\u7535\u8bbf,\u4ece\u800c\u5bfc\u81f4\u7814\u7a76\u5931\u8d25\u7387\u4f4e\u81f30.72%\u3002\u9ad8\u98ce\u9669\u8c03\u7528188\u4f8b (1.4%) ,\u5206\u522b\u4e3a117\u4ef621\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u300134\u4ef618\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u300123\u4ef613\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u30011\u4ef621+13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u548c13\u53f7\u67d3\u8272\u5355\u4f53X,\u5bf9\u4e8e4\u4e2a\u5f02\u6570\u6761\u4ef6\u5747\u663e\u793a\u4e86\u226598.89%\u7684\u9ad8\u7075\u654f\u5ea6\u548c\u7279\u5f02\u5ea6\u3002\u5728\u9ad8\u5371\u75c5\u4f8b\u4e2d\uff0c\u4e34\u5e8a\u8ffd\u8e2a\u6570\u636e\u4e3a77.1% (145\/188) \u3002\u5728\u9ad8\u5371\u8c03\u7528\u7684\u4e34\u5e8a\u8ffd\u8e2a\u4e2d,\u603b\u4f53\u9633\u6027\u9884\u6d4b\u503c\u4e3a84.8% (\u6f5c\u5728\u53ef\u80fd\u6027\u8303\u56f465.4~88.3%) .\u3002\u63d0\u4f9b\u4e86\u6700\u591a2%\u80ce\u513f\u90e8\u5206\u6837\u54c1\u7684NIPT\u7ed3\u679c\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%BB%93%E8%AE%BA\"><\/span><strong>\u7ed3\u8bba<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>VeriSeq <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2\u5206\u6790\u65b9\u6cd5\u68c0\u6d4b\u4e86\u4e00\u7cfb\u5217\u80ce\u513f\u90e8\u5206\u7684\u80ce\u513f\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027,\u5e76\u4e14\u5177\u6709\u9ad8\u7075\u654f\u5ea6\u548c\u9ad8\u7279\u5f02\u6027,\u8fd9\u662f\u6839\u636e\u5df2\u77e5\u7684\u4e34\u5e8a\u7ed3\u679c\u3001\u9ad8\u603b\u4f53PPV\u548c\u4f4e\u5931\u8d25\u7387\u89c2\u5bdf\u5230\u7684\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%B3%E9%94%AE%E5%AD%97\"><\/span><strong>\u5173\u952e\u5b57<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5\uff0c\u80ce\u513f\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\uff0c\u80ce\u513f\u5206\u7ea7\uff0c\u9633\u6027\u547d\u4e2d\u7387\uff0c VeriSeq <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution<\/p>\n<\/div><\/div>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AE%80%E4%BB%8B\"><\/span><strong>\u7b80\u4ecb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>1997\u5e74\u5728\u6bcd\u4f53\u5faa\u73af\u4e2d\u53d1\u73b0\u80ce\u513f\u975e\u7ec6\u80deDNA (cfDNA) [1] \u4fc3\u8fdb\u4e86\u65e0\u521b\u6027\u4ea7\u524d\u68c0\u67e5 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>) \u65b9\u6cd5\u7684\u5f00\u53d1\u548c\u5546\u4e1a\u5e94\u7528,\u4ee5\u7b5b\u9009\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u5b58\u5728\u3002\u8fd9\u4e9bNIPT\u5206\u6790\u5df2\u88ab\u8bc1\u5b9e\u6bd4\u4f20\u7edf\u7684\u8840\u6e05\u7b5b\u9009\u65b9\u6cd5\u5177\u6709\u66f4\u597d\u7684\u6027\u80fd [2] ,\u6700\u8fd1\u7684Meta\u5206\u6790\u663e\u793aNIPT\u5728\u5355\u80ce\u6000\u5b55\u4e2d\u81f3\u5c11\u53ef\u4ee5\u68c0\u6d4b\u523098%\u7684\u5e38\u89c1\u80ce\u513f\u67d3\u8272\u4f53\u4e09\u4f53,\u5e76\u4e14\u5047\u9633\u6027\u7387\u4e3a0.13% [3] \u3002\u5305\u62ec\u5fb7\u56fd\u4eba\u7c7b\u9057\u4f20\u5b66\u4f1a [4 -7] \u5728\u5185\u7684\u8bb8\u591a\u4e13\u4e1a\u5b66\u4f1a\u652f\u6301NIPT\u5728\u666e\u901a\u6000\u5b55\u4eba\u7fa4\u4e2d\u7684\u4f7f\u7528,\u5fb7\u56fd\u8d85\u58f0\u6ce2\u533b\u5b66\u4f1a (DEGUM) ,\u5965\u5730\u5229\u8d85\u58f0\u6ce2\u533b\u5b66\u4f1a (OGUM) ,\u745e\u58eb\u8d85\u58f0\u6ce2\u533b\u5b66\u4f1a (SGUM) ,\u5fb7\u56fd\u80ce\u513f\u533b\u5b66\u57fa\u91d1\u4f1a (FMF) \u6700\u8fd1\u5ba3\u5e03\u63a8\u8350 [8] \u30022015\u5e74\u5965\u5730\u5229-\u745e\u58eb-\u5fb7\u56fdNIPT\u6307\u5357\u652f\u6301\u4f7f\u7528NIPT\u7b5b\u67e5\u5168\u4f53\u5b55\u5987\u7684\u80ce\u513f21\u578b\u67d3\u8272\u4f53\u4e09\u4f53,\u4f46\u4e0d\u5efa\u8bae\u7b5b\u67e5\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u6216\u5fae\u7f3a\u5931 [9] \u3002\u6307\u5357\u6307\u51fa\uff0c\u9488\u5bf913\u548c18\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7684cfDNA\u7b5b\u9009\u7684\u8868\u73b0\u4f4e\u4e8e\u572821\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u4e2d\u89c2\u5bdf\u5230\u7684\u3002\u5fb7\u56fd\u7684\u516c\u5171\u57fa\u91d1\u4fdd\u9669\u8ba1\u5212\u5728\u4e0d\u4e45\u7684\u5c06\u6765\u5c06NIPT\u7eb3\u5165\u6000\u5b55\u671f\u95f4\u5177\u6709\u7279\u6b8a\u98ce\u9669\u7684\u5e38\u89c1\u80ce\u513f\u67d3\u8272\u4f53\u4e09\u4f53,\u540c\u65f6\u5bf9\u76d1\u63a7\u7684\u9700\u6c42\u589e\u52a0\u3002<\/p>\n\n\n\n<p>NIPT\u5206\u6790\u65b9\u6cd5\u53ef\u4ee5\u7b5b\u9009\u7684\u6761\u4ef6\u8303\u56f4\u4ece2011\u5e74\u7684\u5546\u4e1a\u53ef\u5229\u7528\u6027\u6269\u5927\u3002\u9996\u5148\uff0c NIPT\u5206\u6790\u65b9\u6cd5 [10\u300111] \u7b5b\u9009\u4ec5\u5b58\u5728\u4e00\u822c\u7684\u80ce\u513f\u67d3\u8272\u4f53\u4e09\u4f53\uff0c\u537321\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u300118\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u548c13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u3002\u7136\u540e\u5c06\u5176\u6269\u5c55\u4e3a\u5305\u62ec\u5bf9\u80ce\u513f\u6027\u522b\u548c\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027 [12,13] \u7684\u4efb\u4f55\u6d4b\u8bd5,\u7136\u540e\u5305\u62ec\u5bf9\u4e00\u822c\u5fae\u7f3a\u5931 [14,15] \u3001\u7f55\u89c1\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u548c\u90e8\u5206\u7f3a\u5931\u548c\u91cd\u590d [16-18] \u7684\u7b5b\u9009\u9009\u62e9\u3002\u5728\u5168\u57fa\u56e0\u7ec4\u68c0\u67e5\u540e\u6355\u6349\u5230\u7684\u989d\u5916\u7684\u80ce\u513f\u7578\u5f62\u53ef\u80fd\u4f1a\u5f71\u54cd\u60a3\u8005\u7684\u6cbb\u7597,\u56e0\u4e3a\u8fd9\u4e9b\u7578\u5f62\u901a\u5e38\u6d89\u53ca\u4e25\u91cd\u7684\u598a\u5a20\u5e76\u53d1\u75c7 [16,19] \u3002\u5e02\u552e\u7684NIPT\u5206\u6790\u65b9\u6cd5\u5728\u68c0\u6d4b\u989d\u5916\u80ce\u513f\u7578\u5f62\u65b9\u9762\u7684\u4f5c\u7528\u53d6\u51b3\u4e8e\u5206\u6790\u65b9\u6cd5\u4e2d\u4f7f\u7528\u7684\u6280\u672f\u3002\u76ee\u524d\u4e3b\u8981\u7684NIPT\u6280\u672f\u5305\u62ec\u5927\u89c4\u6a21\u5e73\u884c\u5168\u57fa\u56e0\u7ec4\u65b0\u4e00\u4ee3\u6d4b\u5e8f (NGS) [20-22] \u3001\u57fa\u4e8e\u5355\u6838\u82f7\u9178\u591a\u6001\u6027 (SNP) \u7684\u9776\u5411\u6d4b\u5e8f [23,24] \u548c\u5fae\u9635\u5217\u6d4b\u5e8f [25] ,\u76ee\u524d\u4ec5\u9a8c\u8bc1\u4e86\u51e0\u79cd\u57fa\u4e8eNGS\u7684\u5206\u6790\u65b9\u6cd5\u4ee5\u68c0\u6d4b\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u548c\u90e8\u5206\u7f3a\u5931\u548c\u91cd\u590d\u3002\u5927\u89c4\u6a21\u5e76\u884c\u6d4b\u5e8f\u6280\u672f\u53ef\u4ee5\u4f7f\u7528\u5355\u4e00\u672b\u7aef\u6d4b\u5e8f\u6216\u914d\u5bf9\u6d4b\u5e8f;\u4f7f\u7528\u914d\u5bf9\u672b\u7aef\u6d4b\u5e8f\u662f\u6709\u5229\u7684,\u56e0\u4e3a\u8fd9\u63d0\u4f9b\u4e86\u5173\u4e8eDNA\u7247\u6bb5\u5927\u5c0f\u548c\u4f4d\u7f6e\u7684\u4fe1\u606f\u3002\u4e00\u4e9b\u7814\u7a76\u8868\u660e\uff0c\u8fd9\u79cd\u6d4b\u5e8f\u7528\u4e8e\u80ce\u513f\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684\u65e0\u521b\u7b5b\u9009[26\u300127]\uff0c\u5e76\u4e8e2017\u5e74\u53d1\u8868\u4e86\u7b2c\u4e00\u7bc7\u5173\u4e8e\u914d\u5bf9\u672b\u7aef\u6d4b\u5e8f\u4e34\u5e8a\u5e94\u7528\u7684\u8bba\u6587 [28] \u3002<\/p>\n\n\n\n<p>\u6000\u5b55\u8840\u6d46\u6837\u54c1\u7684\u80ce\u513f\u90e8\u5206 (FF) \u5df2\u88ab\u8bc1\u5b9e\u5728NIPT\u4e2d\u53d1\u6325\u91cd\u8981\u4f5c\u7528 [29] \u3002\u60a3\u8005\u7279\u5f81\u53ef\u4ee5\u5f71\u54cdNIPT\u6837\u54c1\u7684\u80ce\u513f\u90e8\u5206\u7684\u7ea7\u522b,\u5e76\u4e14\u663e\u793a\u4e86\u80ce\u9f84\u548c\u80ce\u513f\u4e00\u90e8\u5206\u4e4b\u95f4\u7684\u6b63\u76f8\u5173\u4ee5\u53ca\u6bcd\u4f53\u4f53\u91cd\u548c\u80ce\u513f\u4e00\u90e8\u5206\u4e4b\u95f4\u7684\u8d1f\u76f8\u5173 [24,30,31] \u3002\u5df2\u77e5\u80ce\u513f\u4f4e\u5206\u7ea7\u662fNIPT\u5206\u6790\u5931\u8d25\u7684\u4e3b\u8981\u539f\u56e0\u4e4b\u4e00\u3002\u7814\u7a76\u8fd8\u663e\u793a,\u5177\u6709\u975e\u5e38\u4f4e\u7684\u80ce\u513f\u5206\u7ea7\u7684\u6837\u54c1\u5177\u6709\u66f4\u9ad8\u7684\u975e\u6574\u500d\u6027,\u5c24\u5176\u662f18\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u548c13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53[23,32-34] \u7684\u98ce\u9669;\u7531\u4e8e\u8bb8\u591aNIPT\u5206\u6790\u65b9\u6cd5\u5e94\u7528\u80ce\u513f\u7ea7\u5206\u622a\u65ad\u6cd5,\u56e0\u6b64\u53ef\u80fd\u9519\u8fc7\u8bb8\u591a\u53d7\u5f71\u54cd\u7684\u598a\u5a20,\u8fd9\u4e00\u70b9\u5f88\u91cd\u8981\u3002<\/p>\n\n\n\n<p>\u7b14\u8005\u6240\u5728\u5b9e\u9a8c\u5ba4\u66fe\u62a5\u9053\u57fa\u4e8eSNP\u7684NIPT\u5206\u6790\u65b9\u6cd5\u57283000\u4f8bcfDNA\u5206\u6790\u4e2d\u7684\u6548\u679c [35] \u3002\u672c\u7814\u7a76\u7684\u76ee\u7684\u662f\u786e\u5b9aVeriSeqTMNIPT\u89e3\u51b3\u65b9\u6848v 2\u5206\u6790\u65b9\u6cd5\u7684\u6027\u80fd, VeriSeqTMNIPT\u89e3\u51b3\u65b9\u6848v 2\u662f\u4e00\u79cd\u57fa\u4e8e\u914d\u5bf9\u672b\u7aef\u6d4b\u5e8f\u7684NGS\u5206\u6790\u65b9\u6cd5,\u7528\u4e8e\u68c0\u67e513,607\u4e2a\u666e\u901a\u6000\u5b55\u6837\u54c1\u4e2d\u7684\u80ce\u513f\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u3002\u4e5f\u5e0c\u671b\u7814\u7a76\u80ce\u513f\u90e8\u5206\u5728\u7814\u7a76\u4e2d\u7684\u4f5c\u7528,\u5e76\u786e\u5b9a\u60a3\u8005\u7279\u5f81\u662f\u5426\u4f1a\u5f71\u54cd\u7814\u7a76\u7ed3\u679c\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%9B%BB%E5%AD%90%E8%A3%9C%E8%B6%B3%E8%B3%87%E6%96%99\"><\/span><strong>\u96fb\u5b50\u88dc\u8db3\u8cc7\u6599<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u6587\u7684\u5728\u7ebf\u7248\u672c (https:\/\/doi.org\/10.1007\/s00404-020-05856-0) \u5305\u542b\u53ef\u4f9b\u6388\u6743\u7528\u6237\u4f7f\u7528\u7684\u8865\u5145\u6750\u6599\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Bernd Eiben<br>eiben@eurogen.de<\/li>\n<\/ul>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u5b9e\u9a8c\u533b\u5b66\u53ca\u4e34\u5e8a\u9057\u4f20\u5b66\u96f7\u6069\/Ruhr 1 Amedes\u7814\u7a76\u6240, Willy Brantplatz4,Essen,\u5fb7\u56fd<\/li>\n\n\n\n<li>Amedes\u9057\u4f20\u5b66\uff0c Georgstr\u300250\u300130159\u6c49\u8bfa\u5a01\uff0c\u5fb7\u56fd<\/li>\n<\/ol>\n<\/div><\/div>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9D%90%E6%96%99%E5%92%8C%E6%96%B9%E6%B3%95\"><\/span><strong>\u6750\u6599\u548c\u65b9\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%97%E9%AA%8C%E8%80%85%E6%A3%80%E4%BD%93%E8%AF%A6%E7%BB%86%E4%BF%A1%E6%81%AF\"><\/span><strong>\u53d7\u9a8c\u8005\/\u68c0\u4f53\u8be6\u7ec6\u4fe1\u606f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5728\u8fd9\u9879\u9006\u5411\u5206\u6790\u7814\u7a76\u4e2d,\u6211\u4eec\u9488\u5bf9\u4ece2017\u5e7412\u6708\u81f32019\u5e744\u6708\u768417\u4e2a\u6708\u5185\u6536\u96c6\u7684\u4e00\u822c\u6000\u5b55\u4eba\u7fa4\u4e2d\u63a5\u53d7NIPT\u768413,607\u540d\u6301\u7eed\u60a3\u8005\u3002\u672c\u7814\u7a76\u5305\u62ec\u6000\u5b5510\u5468\u4ee5\u4e0a\u7684\u5355\u80ce\u548c\u53cc\u80de\u80ce\u6000\u5b55\u6837\u672c;\u6392\u9664\u6761\u4ef6\u5305\u62ec\u5df2\u77e5\u7684\u6d88\u5931\u53cc\u80de\u80ce\u6216\u9ad8\u7b49\u7ea7\u591a\u80ce\u598a\u5a20\u3002\u5728\u8be5\u7814\u7a76\u4e2d\uff0c\u4f7f\u7528\u5728\u5b9e\u9a8c\u5ba4\u4e2d\u8fdb\u884c\u7684\u65b0\u578bNIPT\u5206\u6790, VeriSeq NIPT\u89e3\u51b3\u65b9\u6848v2\u7684\u751f\u7269\u4fe1\u606f\u5b66\u7ba1\u9053\u91cd\u65b0\u5206\u6790\u6765\u81ea\u539f\u59cb\u6837\u672c\u5206\u6790\u7684\u73b0\u6709\u6d4b\u5e8f\u6587\u4ef6\u3002\u91cd\u65b0\u5206\u6790\u7684\u7ed3\u679c\u5e76\u672a\u4f20\u8fbe\u7ed9\u60a3\u8005\u6216\u533b\u751f\u3002 Amedes\u9075\u5b88\u8054\u90a6\u6570\u636e\u4fdd\u62a4\u6cd5\u7684\u89c4\u5b9a\u3002\u4ece\u6240\u6709\u53c2\u4e0e\u6d4b\u8bd5\u7684\u60a3\u8005\u4e2d\u83b7\u5f97\u60a3\u8005\u540c\u610f,\u5e76\u4f7f\u7528\u6570\u636e\u8fdb\u884c\u9002\u5f53\u7684\u8d28\u91cf\u7ba1\u7406\u548cNIPT\u5206\u6790\u6539\u8fdb\u3002\u6b64\u5916\uff0c\u5728\u5c06\u5176\u5e76\u5165\u6d4b\u8bd5\u4e4b\u524d,\u5c06\u6240\u6709\u6570\u636e\u89e3\u5bc6\u3002<\/p>\n\n\n\n<p>NIPT\u7684\u9002\u7528\u5305\u62ec\u6bcd\u4eb2\u7684\u9ad8\u9f84\u3001\u7b5b\u67e5\u68c0\u6d4b\u7684\u9633\u6027\u7ed3\u679c (\u8d85\u58f0\u6ce2\u3001\u8840\u6e05\u6807\u5fd7\u7269) \u548c\u5176\u4ed6\u533b\u5b66\u539f\u56e0\u6216\u60a3\u8005\u7684\u7126\u8651\u3002\u5176\u4ed6\u533b\u5b66\u539f\u56e0\u5305\u62ec\u5df2\u77e5\u7684\u75be\u75c5\u5982\u7cd6\u5c3f\u75c5\u3001\u766b\u75eb\u3001\u764c\u75c7\u548c\u836f\u7269\u6cbb\u7597\u5982\u5316\u7597\u3001\u6d41\u4ea7\u6216\u6000\u5b55\u5e76\u53d1\u75c7\u7684\u75c5\u53f2 (\u4f8b\u5982,21\u300118\u300113\u3001\u5355\u4f53\u6027X) ,\u5bb6\u65cf\u9057\u4f20\u7f3a\u9677 (\u4f8b\u598221\u53f7\u67d3\u8272\u4f53\u4e09\u4f53) \u6216\u8840\u7f18\u5173\u7cfb\u3002\u6ca1\u6709\u5173\u4e8e\u9002\u5e94\u8bc1\u4fe1\u606f\u65f6,\u4ee5\u60a3\u8005\u7126\u8651\u6216\u6bcd\u4eb2\u9ad8\u9f84 (\u4e13\u5229\u4e3a35\u5c81\u4ee5\u4e0a) \u4e3a\u9002\u5e94\u8bc1\u3002\u5728\u4e0a\u8ff0\u9002\u5e94\u75c7\u4e2d\uff0c\u5982\u679c\u5b58\u5728\u591a\u4e2a\u9002\u5e94\u75c7\uff0c\u5219\u4f18\u5148\u5c06\u4ec5\u4e00\u4e2a\u9002\u5e94\u75c7\u5206\u914d\u81f3\u6bcf\u4e2a\u60a3\u8005,\u4f8b\u59821.\u7b5b\u9009\u8bd5\u9a8c\u9633\u6027\u30012.\u6bcd\u4eb2\u5e74\u9f84\u5927\u30013.\u5176\u4ed6\u533b\u5b66\u539f\u56e0\u30014.\u60a3\u8005\u7684\u7126\u8651\u3002\u4e0d\u540c\u9002\u5e94\u578b\u7684\u75c5\u4f8b\u5206\u7c7b\u7684\u51c6\u786e\u6027\u4ee5\u53ca\u5173\u4e8e\u60a3\u8005\u75c5\u53f2\u7684\u6240\u6709\u5176\u4ed6\u4fe1\u606f\u548c\u4e34\u5e8a\u7ed3\u679c\u7684\u53cd\u9988\u53d6\u51b3\u4e8e\u6240\u63a5\u6536\u7684\u4fe1\u606f\u7684\u51c6\u786e\u6027\u3002<\/p>\n\n\n\n<p>\u901a\u8fc7\u4fb5\u5165\u6027\u4ea7\u524d\u8bca\u65ad\u6280\u672f (\u7ed2\u6bdb\u53d6\u6837 (CVS) \u548c\/\u6216\u7f8a\u819c\u7a7f\u523a\u672f\u540e\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790) \u3001\u53d7\u5b55\u7269\u5206\u6790 (\u6d41\u4ea7\u7ec4\u7ec7\u6216\u80ce\u76d8\u6837\u54c1\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790,\u89e3\u5256\u6216\u5256\u68c0,\u4f8b\u5982\u8089\u773c\u8bc4\u4f30\u6d41\u4ea7) \u3001\u4ea7\u540e\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u4ee5\u53ca\u8d85\u58f0\u6ce2\u68c0\u67e5\u548c\u65b0\u751f\u513f\u8eab\u4f53\u68c0\u67e5\u6765\u786e\u5b9a\u6d4b\u8bd5\u75c5\u4f8b\u7684\u4e34\u5e8a\u7ed3\u679c\u6216\u4e34\u5e8a\u771f\u5b9e\u6027\u3002\u5982\u679c\u901a\u8fc7\u4fb5\u5165\u6027\u4ea7\u524d\u8bca\u65ad\u6216\u8d85\u58f0\u6ce2\u89c2\u5bdf\u5230\u7684\u4e0e\u9ad8\u98ce\u9669NIPT\u547c\u51fa\u4e00\u81f4\u7684\u5f02\u5e38\u8bc1\u5b9e\u4e86\u80ce\u513f\u975e\u6574\u500d\u6027\u9633\u6027NIPT\u7ed3\u679c,\u5219\u8ba4\u4e3a\u8bc1\u5b9e\u4e86\u80ce\u513f\u975e\u6574\u500d\u6027\u9633\u6027NIPT\u7684\u7ed3\u679c\u3002\u5982\u679c\u533b\u751f\u5411\u5065\u5eb7\u51fa\u751f\u7684\u5a74\u513f\u63d0\u4f9b\u4e86\u660e\u663e\u4e0d\u7b26\u5408\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c721\u300118\u300113\u6216\u5355\u4f53X (\u5982\u8db3\u5185\u7ffb\u3001\u80be\u76c2\u6269\u5f20\u3001\u5ba4\u95f4\u9694\u7f3a\u635f\u7b49\u5fc3\u810f\u7f3a\u635f\uff0c\u6216\u80ce\u76d8\u529f\u80fd\u4e0d\u5168\u5bfc\u81f4\u7684\u5bab\u5185\u53d1\u80b2\u53d7\u9650\u3002)\u7684\u53cd\u9988\uff0c\u5219\u8ba4\u4e3a\u4f4e\u98ce\u9669NIPT\u7ed3\u679c\u5f97\u5230\u786e\u8ba4\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"VeriSeq_NIPT_Solution_v2%E5%88%86%E6%9E%90%E6%B3%95\"><\/span><strong>VeriSeq NIPT Solution v2\u5206\u6790\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f7f\u7528VeriSeq NIPT\u89e3\u51b3\u65b9\u6848v2\u751f\u7269\u4fe1\u606f\u5b66\u7ba1\u9053(Illumina Inc., San Diego, CA, USA)\u8fdb\u884cNIPT\u5206\u6790\u3002\u8be5\u5206\u6790\u4f7f\u7528\u914d\u5bf9\u672b\u7aef\u6d4b\u5e8f\uff0c\u5177\u6709\u4e24\u79cd\u62a5\u544a\u65b9\u5f0f:\u62a5\u544a\u5e38\u89c1\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u548c\u6027\u67d3\u8272\u4f53 (\u5f53\u9009\u62e9\u65f6) \u7684\u300c\u57fa\u672c\u7684\u300d ,\u4ee5\u53ca\u7528\u4e8e\u68c0\u6d4b\u5168\u57fa\u56e0\u7ec4\u80ce\u513f\u7578\u5f62 (\u5305\u62ec\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u548c\u8d85\u8fc77Mb\u7684\u90e8\u5206\u7f3a\u5931\u548c\u91cd\u590d) \u7684\u5b58\u5728\u7684\u5168\u57fa\u56e0\u7ec4\u5206\u6790\u3002\u6700\u521d\uff0c\u7531\u4e8e\u60a3\u8005\u540c\u610f\u5206\u6790\u5e38\u89c1\u7684\u67d3\u8272\u4f53\u4e09\u4f53\u548c\u6027\u67d3\u8272\u4f53 (\u5982\u679c\u88ab\u9009\u62e9) \u7684\u6837\u672c,\u672c\u7814\u7a76\u4e2d\u6ca1\u6709\u5173\u4e8e\u4f7f\u7528\u57fa\u672c\u6a21\u5f0f\u7b5b\u9009\u4e4b\u5916\u7684\u5f02\u5e38\u7684\u7ed3\u679c\u3002\u5728\u4f7f\u7528VeriSeq <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Assay Softwarev2\u5206\u6790\u73b0\u6709\u7684\u6d4b\u5e8f\u5217\u6587\u4ef6\u4e4b\u540e,\u5bf9\u4e8e\u5e38\u89c1\u7684\u80ce\u513f\u67d3\u8272\u4f53\u4e09\u4f53 (21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u300118\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u548c13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7) \u548c\u5355\u4f53X (\u4ec5\u5355\u4f53) ,\u6837\u54c1\u88ab\u79f0\u4e3a\u5f02\u5e38\u68c0\u6d4b\u6216\u65e0\u5f02\u5e38\u68c0\u6d4b\u3002\u8fd8\u63d0\u4f9b\u4e86\u6240\u7814\u7a76\u6837\u54c1\u7684\u80ce\u513f\u5206\u6570\u4f30\u8ba1\u503c\u3002<br>\u4f7f\u7528\u89c2\u5bdf\u5230\u7684\u8986\u76d6\u7387\u6570\u636e\u548c\u7247\u6bb5\u5927\u5c0f\u5206\u5e03\u6765\u4f30\u7b97\u80ce\u513f\u5206\u7ea7\u3002\u4f7f\u7528\u4e0e\u5148\u524d\u63cf\u8ff0\u7684\u65b9\u6cd5\u7c7b\u4f3c\u7684\u65b9\u6cd5\u6765\u83b7\u5f97\u6839\u636e\u8986\u76d6\u8303\u56f4\u7684\u4f30\u7b97 [36] \u3002\u57fa\u4e8e\u5c3a\u5bf8\u7684FF\u4f30\u8ba1\u5efa\u7acb\u5728\u80ce\u513fcfDNA\u7247\u6bb5\u5e73\u5747\u77ed\u4e8e\u6bcd\u4f53\u7247\u6bb5\u7684\u4e8b\u5b9e\u57fa\u7840\u4e0a [27,36,37] \u3002<br>\u6570\u636e\u5206\u6790\u540e\uff0c\u7ed9\u51fa\u5404\u4e2a\u6837\u672c\u7684\u5bf9\u6bd4\u4f3c\u7136\u7387 (LLR) \u5206\u6570\u3002\u8fd9\u662f\u5f53\u7ed9\u5b9a\u6837\u672c\u7684\u4f30\u7b97FF\u548c\u89c2\u5bdf\u5230\u8986\u76d6\u65f6\u6837\u672c\u53d7\u5f71\u54cd\u7684\u6982\u7387\u3002\u5206\u6790\u7a0b\u5e8f\u8fd8\u4f7f\u7528\u79f0\u4e3a\u4e2a\u4f53\u5316\u80ce\u513f\u975e\u6574\u500d\u6027\u7f6e\u4fe1\u5ea6\u6d4b\u8bd5 (iFACT) \u7684\u52a8\u6001\u9608\u503c\u5ea6\u91cf,\u8be5\u52a8\u6001\u9608\u503c\u5ea6\u91cf\u786e\u5b9a\u7ed9\u51fa\u6837\u672c\u7684FF\u4f30\u7b97\u7684\u5404\u4e2a\u6837\u672c\u662f\u5426\u5177\u6709\u8db3\u591f\u7684\u6d4b\u5e8f\u8986\u76d6\u7387\u3002;\u672a\u8fbe\u5230\u6b64\u9608\u503c\u7684\u6837\u672c\u62a5\u544a\u4e3aQC\u5931\u8d25\u3002\u540c\u65f6\u4e5f\u8003\u8651\u4e86\u5176\u4ed6QC\u6307\u6807,\u5982\u8986\u76d6\u7387\u5747\u5300\u6027\u3002\u8be5\u6d4b\u8bd5\u65b9\u6cd5\u8fd8\u63d0\u4f9b\u4e86T-Statistics\u503c\uff0c\u6709\u52a9\u4e8e\u533a\u5206\u4f4e\u98ce\u9669\u548c\u9ad8\u98ce\u9669\u6837\u672c\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%BB%9F%E8%AE%A1\"><\/span><strong>\u7edf\u8ba1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f7f\u7528Microsoft Excel 2010\u8fdb\u884c\u7edf\u8ba1\u6570\u636e\u5206\u6790\u3002\u5728\u9002\u5f53\u7684\u60c5\u51b5\u4e0b,\u901a\u8fc7Student\u7684t\u68c0\u9a8c\u8bc4\u4f30\u5dee\u5f02\u7684\u7edf\u8ba1\u610f\u4e49,\u5e76\u4e14p\u503c&lt;0.05\u88ab\u8ba4\u4e3a\u662f\u6709\u6548\u7684\u3002\u8ba1\u7b97\u4e8c\u987995%\u7f6e\u4fe1\u533a\u95f4 (CI) \u7528\u4e8e\u4f30\u8ba1\u7075\u654f\u5ea6\u548c\u7279\u5f02\u6027\u3002<br>\u5728\u7b2c\u4e00\u8840\u6db2\u6837\u672c\u7684\u975e\u786e\u5b9a\u6027NIPT\u7ed3\u679c\u7684\u60c5\u51b5\u4e0b,\u91c7\u96c6\u7b2c\u4e8c\u8840\u6db2\u6837\u672c\u7528\u4e8e\u518d\u5206\u6790\u3002\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u7edf\u8ba1\u5206\u6790\u6392\u9664\u4e86\u7b2c\u4e00\u4e2a\u5206\u6790\u7ed3\u679c\uff0c\u5e76\u4e14\u6bcf\u4e2a\u60a3\u8005\u4ec5\u6709\u4e00\u4e2a\u7ed3\u679c\u5305\u542b\u5728\u7edf\u8ba1\u8bc4\u4f30\u4e2d\u3002\u6b64\u5916\uff0c\u5728\u4e00\u4e9b\u6700\u521d\u7684\u8840\u6db2\u6837\u672c\u5206\u6790\u4e2d\u83b7\u5f97NIPT\u7ed3\u679c,\u4f46\u89c2\u5bdf\u5230\u4f4e\u4e8e4%\u7684\u4f4eFF (3%FF\u62162%FF) \u7684\u60a3\u8005\u4e2d,\u6536\u96c6\u5176\u4ed6\u8840\u6db2\u6837\u672c\u8fdb\u884c\u91cd\u65b0\u5206\u6790,\u5e76\u5c06\u5176\u4f5c\u4e3a\u826f\u597d\u59ff\u6001\u5904\u7406\u3002\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u9664\u4e86\u91cd\u65b0\u5206\u6790\u6ca1\u6709\u5f97\u5230NIPT\u7ed3\u679c\u7684\u60c5\u51b5\u4ee5\u5916,\u5c06\u6700\u521d\u7684\u5206\u6790\u7ed3\u679c\u4ece\u7edf\u8ba1\u5206\u6790\u4e2d\u6392\u9664,\u5728\u540e\u8005\u7684\u60c5\u51b5\u4e0b,\u5c06\u6700\u521d\u7684\u5206\u6790\u7ed3\u679c\u5305\u542b\u57282%\u62163%\u7684FF\u7684\u6570\u636e\u4e2d,\u5c06\u91cd\u65b0\u5206\u6790\u4e0d\u6210\u529f\u6392\u9664\u5728\u5916\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%BB%93%E6%9E%9C\"><\/span><strong>\u7ed3\u679c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7814\u7a76\u5171\u7eb3\u516513,607\u4f8b\u6000\u5b55\u75c5\u4f8b,\u5305\u62ec13,333\u4f8b\u5355\u80ce\u548c274\u4f8b\u53cc\u80de\u80ce\u7684\u6000\u5b55\u6837\u672c\u3002\u5728\u5176\u4e2d,13,281 (97.6%) \u5728\u5206\u6790\u521d\u59cb\u8840\u6db2\u6837\u672c\u65f6\u83b7\u5f97NIPT\u7684\u7ed3\u679c\u3002\u5728\u4f7f\u7528\u521d\u59cb\u8840\u6db2\u6837\u672c\u672a\u83b7\u5f97\u7ed3\u679c\u7684326\u4e2a\u6837\u672c\u4e2d,273\u4e2a\u5bf9\u7b2c2\u4e2a\u8840\u6db2\u6837\u672c\u8fdb\u884c\u4e86\u91cd\u590d\u5206\u6790,228\u4f8b (83.5%) \u83b7\u5f97\u4e86\u7ed3\u679c\u3002\u603b\u4f53\u6765\u8bf4,\u5171\u670913,509\u540d\u60a3\u8005\u83b7\u5f97\u4e86NIPT\u7ed3\u679c (\u56fe1) \u3002\u7814\u7a76\u5931\u8d25\u7387\u4e3a0.72% (98\/13,607) \u3002\u4e34\u5e8a\u7ed3\u679c\u53ef\u9002\u7528\u4e8e2623\u4f8b\u3002\u7ed3\u679c\u662f\u57fa\u4e8e\u4fb5\u5165\u6027\u8bca\u65ad\u6280\u672f,\u8d85\u58f0\u6ce2\u6216\u65b0\u751f\u513f\u8eab\u4f53\u68c0\u67e5 (\u9644\u88681;\u5728\u7ebf\u8d44\u6e901) \u3002<\/p>\n\n\n\n<p>\u88681\u663e\u793a\u4e86\u603b\u4f53\u7814\u7a76\u4e2d\u5305\u542b\u768413,607\u540d\u60a3\u8005\u7684\u4eba\u53e3\u7edf\u8ba1\u6570\u636e\u3002\u7531\u4e8e\u7236\u6bcd\u7684\u62c5\u5fe7,\u51e0\u4e4e\u4e00\u534a\u7684\u60a3\u8005\u9009\u62e9\u5148\u63a5\u53d7NIPT\u3002\u7814\u7a76\u6837\u672c\u7684\u80ce\u513f\u5e73\u5747\u5206\u6570\u4e3a9.62%,\u5176\u8303\u56f4\u4e3a1.20\u301c33.94%\u3002\u80ce\u513f\u6bd4\u4f8b\u4e0e\u60a3\u8005BMI\u7684\u5173\u7cfb\u5982\u56fe2\u6240\u793a\u3002\u603b\u4f53\u800c\u8a00\uff0c 86.6%\u7684\u60a3\u8005\u5728\u6000\u5b55\u65e9\u671f\u63a5\u53d7\u4e86\u68c0\u67e5\u3002\u56fe1 (\u5728\u7ebf\u8d44\u6e902) \u663e\u793a\u4e86\u6000\u5b55\u5468\u6570\u4e0e\u5176\u4ed6\u60a3\u8005\u7684\u7279\u5f81 (\u6bcd\u4eb2\u5e74\u9f84\u3001BMI\u548c\u80ce\u513f\u767e\u5206\u6bd4) \u4e4b\u95f4\u7684\u5173\u7cfb\u3002\u6b63\u5982\u9884\u671f\u7684\u90a3\u6837\uff0c BMI\u968f\u7740\u6000\u5b55\u5468\u6570\u7684\u589e\u52a0\u800c\u4e0a\u5347,\u5c31\u5982\u540c\u80ce\u513f\u7684\u6bd4\u4f8b\u4e00\u6837\u3002\u4ec5\u5728\u6000\u5b5520\u5468\u6216\u66f4\u957f\u65f6\u95f4\u65f6\u89c2\u5bdf\u5230\u80ce\u513f\u5206\u7ea7\u7684\u663e\u7740\u589e\u52a0,\u800c\u5728\u6000\u5b55\u524d\u4e00\u5468,\u4ec5\u89c2\u5bdf\u5230\u80ce\u513f\u5206\u7ea7\u7684\u8f7b\u5fae\u589e\u52a0\u3002\u8fd8\u7814\u7a76\u4e86\u7b5b\u9009\u6307\u5f81\u4e0e\u6bcd\u4eb2\u5e74\u9f84\u3001BMI\u548c\u80ce\u513f\u6bd4\u4f8b\u4e4b\u95f4\u7684\u5173\u7cfb (\u8865\u5145\u56fe2;\u5728\u7ebf\u8d44\u6e902) \u3002<\/p>\n\n\n\n<p>\u5728\u63a5\u53d7NIPT\u68c0\u67e5\u7ed3\u679c\u768413,509\u540d\u60a3\u8005\u4e2d,\u670998.6% (13,321) \u88ab\u79f0\u4e3a\u4f4e\u98ce\u9669,\u800c\u67091.4% (188) \u88ab\u79f0\u4e3a\u80ce\u513f\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u5b58\u5728\u7684\u9ad8\u98ce\u9669 (\u56fe1) \u3002\u4e34\u5e8a\u7ed3\u679c\u9002\u7528\u4e8e2623\u4f8b (\u8865\u5145\u88681;\u5728\u7ebf\u8d44\u6e901) \u3002\u5728\u62a5\u544a\u80ce\u513f\u975e\u6574\u500d\u6027\u4f4e\u98ce\u9669\u768413,321\u4f8b\u4e2d,\u53ef\u7528\u7684\u4e34\u5e8a\u7ed3\u679c\u4e3a2478\u4f8b (18.6%) \u3002\u5176\u4e2d\uff0c\u67091\u4e2a\u5047\u9634\u6027\u75c5\u4f8b\u88ab\u53d1\u73b0\u662f21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u3002\u5728\u6b64\u5047\u9634\u6027\u75c5\u4f8b\u4e2d,\u80ce\u513f\u7684\u6bd4\u4f8b\u4e3a3%\u3002<\/p>\n\n\n\n<p>\u5728188\u4e2a\u9ad8\u98ce\u9669\u8c03\u7528\u4e2d,117\u4e2a\u662f21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7,34\u4e2a\u662f18\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7,23\u4e2a\u662f13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7,1\u4e2a\u662f21+13\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7,13\u4e2a\u662fX\u4e09\u4f53\u3002\u5728\u8be5\u7814\u7a76\u4e2d,1.3%\u7684\u60a3\u8005\u88ab\u8981\u6c42\u63a5\u53d7\u5177\u6709\u79ef\u6781\u610f\u4e49\u7684NIPT,\u4ee5\u5bfb\u6c42\u4f20\u7edf\u67d3\u8272\u4f53\u4e09\u4f53\u7684\u5b58\u5728\u6027\u3002\u8fd9\u4e9b\u9ad8\u98ce\u9669\u75c5\u4f8b\u4e2d\u670977.1% (145\/188) \u7684\u8ffd\u8e2a\u968f\u8bbf\u3002\u5982\u88682\u6240\u793a\uff0c\u6839\u636e123\u4f8b\u771f\u9633\u6027\u75c5\u4f8b\u548c22\u4f8b\u5047\u9633\u6027\u75c5\u4f8b\uff0c\u5728\u9ad8\u98ce\u9669\u75c5\u4f8b\u4e2d\u89c2\u5bdf\u5230\u8d85\u8fc798.89%\u7684\u7075\u654f\u5ea6\u548c\u8d85\u8fc799.73%\u7684\u7279\u5f02\u6027\u30021\u4f8b21+13\u4e09\u4f53\u7efc\u5408\u75c7\u7684\u7ed3\u679c\u5c1a\u672a\u516c\u5e03,\u4f46\u53d1\u73b0\u8be5\u75c5\u4f8b\u4e3a\u771f\u9633\u6027\u3002\u9ad8\u98ce\u9669\u75c5\u4f8b\u7684\u603b\u4f53PPV\u4e3a84.8% (123\/145) \u300221\u300118\u300113\u548cX\u67d3\u8272\u4f53\u4e09\u4f53\u75c5\u4f8b\u7684PPV\u7ed3\u679c\u5982\u88682\u6240\u793a\u3002\u57fa\u4e8e\u6ca1\u6709\u968f\u8bbf\u7684\u6240\u6709\u9ad8\u98ce\u9669\u75c5\u4f8b\u5747\u4e3a\u771f\u9633\u6027\u6216\u5168\u90e8\u4e3a\u771f\u9634\u6027\u7684\u5047\u8bbe,\u8ba1\u7b97\u4e86PPV\u7684\u7406\u8bba\u8303\u56f4\u3002\u9ad8\u98ce\u9669\u75c5\u4f8b\u7684\u7406\u8bbaPPV\u8303\u56f4\u4e3a65.4% (123\/188) \u81f388.3% (166\/188) \u3002\u8865\u5145\u56fe3 (\u5728\u7ebf\u8d44\u6e902) \u4e2d\u663e\u793a\u4e86\u5b55\u5987\u5e74\u9f84\u3001BMI\u548cFF\u5bf9NIPT\u7ed3\u679c\u7684\u5c42\u6b21\u5212\u5206\u3002\u7ed3\u679c\u53d1\u73b018\u548c13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u4e0e\u660e\u663e\u66f4\u4f4e\u7684\u80ce\u513f\u5206\u7ea7\u76f8\u5173 (\u4e0e\u4f4e\u98ce\u9669NIPT\u7ed3\u679c\u76f8\u6bd4,\u5206\u522b\u4e3ap&lt;0.01\u548cp&lt;0.001) \u3002\u8865\u5145\u56fe4 (\u5728\u7ebf\u8d44\u6e902) \u663e\u793a\u4e86\u6839\u636e\u60a3\u8005BMI\u8fdb\u884c\u5206\u5c42\u7684\u6240\u6709\u4f4e\u98ce\u9669\u548c\u9ad8\u98ce\u9669NIPT\u75c5\u4f8b\u4e2d\u80ce\u513f\u7684\u767e\u5206\u6bd4\u3002\u8865\u5145\u88682 (\u5728\u7ebf\u8d44\u6e901) \u5217\u51fa\u4e86\u771f\u9633\u6027\u548c\u5047\u9633\u6027\u9ad8\u98ce\u9669\u75c5\u4f8b\u7684LLR\u8bc4\u5206\u548cT\u7edf\u8ba1\u3002\u53ef\u89c1\uff0c\u5047\u9633\u602721\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u7684LLR\u8bc4\u5206\u548cT\u7edf\u8ba1\u5b66\u90fd\u8fdc\u4f4e\u4e8e\u771f\u9633\u602721\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u3002<\/p>\n\n\n\n<p>\u603b\u4f53\u800c\u8a00\uff0c 2.0% (264\/13,509) \u7684\u80ce\u513f\u6bd4\u4f8b\u5c0f\u4e8e4%\uff0c 43.9% (5933\/13,509) \u7684\u80ce\u513f\u6bd4\u4f8b\u4e3a4~8%\uff0c 54.1% (7312\/13,509) \u80ce\u513f\u6bd4\u4f8b\u8d85\u8fc78%\u3002\u6839\u636e\u80ce\u513f\u6bd4\u4f8b\uff0c\u9ad8\u98ce\u9669NIPT\u7ed3\u679c\u7684\u7ec6\u5206\u5982\u56fe3\u6240\u793a\u3002\u53ef\u89c1\uff0c\u5927\u591a\u6570\u9ad8\u98ce\u9669\u75c5\u4f8b\u4e3a4~8% (49.5%;93\/188) \u80ce\u513f\u7684\u6bd4\u4f8b\u3002\u5728264\u4e2a\u80ce\u513f\u6bd4\u4f8b\u4f4e\u4e8e4%\u7684\u6837\u672c\u4e2d\uff0c\u670921\u4e2a\u88abNIPT\u5217\u4e3a\u9ad8\u98ce\u9669(6\u4e2a\u4e09\u4f53\u602721\u30016\u4e2a\u4e09\u4f53\u602718\u548c9\u4e2a\u4e09\u4f53\u602713) \u3002\u5728\u8fd921\u4e2a\u75c5\u4f8b\u4e2d,\u67099\u4f8b\u83b7\u5f97\u4e86\u7ed3\u679c, PPV\u4e3a66.7% (6\/9) \u3002\u5728\u4f4e\u98ce\u9669\u75c5\u4f8b\u4e2d\uff0c\u5728\u80ce\u513f\u6bd4\u4f8b\u5c0f\u4e8e4%\u7684\u75c5\u4f8b\u4e2d\uff0c\u89c2\u5bdf\u523098.1% (52\/53) \u7684NPV\u3002\u5f53\u80ce\u513f\u767e\u5206\u6bd4\u4e3a4~8%\u65f6 (1198\/1198) \uff0c\u5f53\u80ce\u513f\u767e\u5206\u6bd4\u5927\u4e8e8%\u65f6 (1227\/1227) \uff0c\u89c2\u5bdf\u5230\u8d85\u8fc799.9%\u7684NPV\u3002<\/p>\n<\/div><\/div>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"600\" height=\"504\" src=\"https:\/\/hiro-clinic.or.jp\/nipt\/wp-content\/uploads\/2020\/11\/flowchart_of_study.png\" alt=\"flowchart_of_study.png\" class=\"wp-image-7237\"\/><figcaption class=\"wp-element-caption\">\u56fe1 \u8bd5\u9a8c\u6837\u54c1\u7684\u6d41\u7a0b\u56fe<\/figcaption><\/figure>\n\n\n\n<table>\n<caption>\u88681\u8bd5\u9a8c\u7ec4\u60a3\u8005\u7684\u4eba\u53e3\u7edf\u8ba1\u5b66\u7279\u5f81<\/caption>\n<colgroup><col style=\"width:50%\">\n    <col style=\"width:50%\">\n<\/colgroup>\n<thead>\n<tr>\n<td>&nbsp;<\/td><td>\u6d4b\u8bd5\u961f\u5217(n = 13,607)<\/td>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<th colspan=\"2\">\u6bcd\u4eb2\u7684\u5e74\u9f84 (\u5c81)<\/th>\n<\/tr>\n<tr>\n<td>\u5e73\u5747\u503c\u00b1\u6807\u51c6\u8bef\u5dee<\/td><td>33.68 \u00b1 0.04<\/td>\n<\/tr>\n<tr>\n<td>\u8303\u56f4<\/td><td>17.45\u201355.83<\/td>\n<\/tr>\n<\/tbody><\/table>\n<table>\n<colgroup><col style=\"width:50%\">\n    <col style=\"width:50%\">\n<\/colgroup>\n<tbody><tr>\n<th colspan=\"2\">\u6000\u5b55\u5468\u9f84<\/th>\n<\/tr>\n<tr>\n<td>\u5e73\u5747\u503c\u00b1\u6807\u51c6\u8bef\u5dee<\/td><td>12.48 \u00b1 0.02<\/td>\n<\/tr>\n<tr>\n<td>\u8303\u56f4<\/td><td>10.00\u201336.57<\/td>\n<\/tr>\n<\/tbody><\/table>\n<table>\n<colgroup><col style=\"width:50%\">\n    <col style=\"width:50%\">\n<\/colgroup>\n<tbody><tr>\n<th colspan=\"2\">BMI<\/th>\n<\/tr>\n<tr>\n<td>\u5e73\u5747\u503c\u00b1\u6807\u51c6\u8bef\u5dee<\/td><td>24.87 \u00b1 0.05<\/td>\n<\/tr>\n<tr>\n<td>\u8303\u56f4<\/td><td>15.05\u201360.96<\/td>\n<\/tr>\n<\/tbody><\/table>\n<table>\n<colgroup><col style=\"width:50%\">\n    <col style=\"width:50%\">\n<\/colgroup>\n<tbody><tr>\n<th colspan=\"2\">\u7b5b\u67e5\u6307\u5f81[n(%)]<\/th>\n<\/tr>\n<tr>\n<td>\u6bcd\u4eb2\u7684\u9ad8\u9f84<\/td><td>5755 (42.3)<\/td>\n<\/tr>\n<tr>\n<td>\u7b5b\u67e5\u68c0\u67e5\u9633\u6027\u7ed3\u679c<\/td><td>819 (6.0)<\/td>\n<\/tr>\n<tr>\n<td>\u5176\u4ed6\u7684\u533b\u5b66\u68c0\u67e5<\/td><td>748 (5.5)<\/td>\n<\/tr>\n<tr>\n<td>\u60a3\u8005\u7684\u7126\u8651<\/td><td>6285 (46.2)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h4 class=\"wp-block-heading\"><strong>\u5e74\uff0c\u5468\u548c\u5e73\u5747\u503cSEM\u6807\u51c6\u8bef\u5dee, BMI\u4f53\u91cd\u6307\u6570<\/strong><\/h4>\n\n\n\n<p>\u7b5b\u67e5\u68c0\u67e5\u7684\u9633\u6027\u7ed3\u679c\u5305\u62ec\u8d85\u58f0\u6ce2\u68c0\u67e5\u6216\u8840\u6e05\u6807\u5fd7\u7269\u7b5b\u67e5<br>\u5176\u4ed6\u533b\u5b66\u539f\u56e0\u5305\u62ec\u9ad8\u5371\u5bb6\u65cf\u53f2\uff0c\u4f8b\u5982\u8d85\u58f0\u6ce2\u5f02\u5e38\u3001\u60a3\u8005\u7684\u5df2\u77e5\u75be\u75c5 (\u4f8b\u5982\u7cd6\u5c3f\u75c5\u3001\u766b\u75eb\u548c\u764c\u75c7) \u3001\u7528\u836f (\u4f8b\u5982\u5316\u7597) \u6216\u6d41\u4ea7\u53f2\u3001\u65e2\u5f80\u6000\u5b55\u4e2d\u7684\u9057\u4f20\u5f02\u5e38 (\u4f8b\u598221\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u300118\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u300113\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u548c\u67d3\u8272\u4f53X) \u3001\u5bb6\u65cf\u4e2d\u7684\u9057\u4f20\u5f02\u5e38 (\u4f8b\u598221\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7) \u6216\u8840\u7f18\u5173\u7cfb\u3002<br>\f<\/p>\n<\/div><\/div>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"600\" height=\"431\" src=\"https:\/\/hiro-clinic.or.jp\/nipt\/wp-content\/uploads\/2020\/11\/relationship_between_fetal_fraction_and_patient_BMI.png\" alt=\"\" class=\"wp-image-7239\"\/><figcaption class=\"wp-element-caption\">\u56fe2 \u80ce\u513f\u5206\u7ea7\u4e0e\u60a3\u8005BMI\u7684\u5173\u7cfb<\/figcaption><\/figure>\n\n\n\n<div class=\"wp-block-group table2\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h4 class=\"wp-block-heading\">\u88682 <strong> \u9ad8\u98ce\u9669NIPT\u75c5\u4f8b\u7684\u7075\u654f\u5ea6\u3001\u7279\u5f02\u6027\u548c\u9633\u6027\u9884\u6d4b\u503c<\/strong><\/h4>\n\n\n\n<table>\n<colgroup>\n<col style=\"width:20%\">\n    <col style=\"width:20%\">\n    <col style=\"width:20%\">\n    <col style=\"width:20%\">\n    <col style=\"width:20%\">\n<\/colgroup>\n<thead>\n<tr>\n<th><\/th><th>21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/th><th>18\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/th><th>13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/th><th>\u67d3\u8272\u4f53\u5355\u4f53\u7efc\u5408\u75c7X<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<th>\u75c7\u4f8b\u6570 (n)<\/th>\n<td>117<\/td>\n<td>34<\/td>\n<td>23<\/td>\n<td>13<\/td>\n<\/tr>\n<tr>\n<th>\u8ffd\u8e2a\u8c03\u67e5\u4f8b [n]<\/th>\n<td>96(82.1)<\/td>\n<td>23(67.6)<\/td>\n<td>15(65.2)<\/td>\n<td>10(76.9)<\/td>\n<\/tr>\n<tr>\n<th>\u7075\u654f\u5ea6<span class=\"nowrap\">[%(n\/N;95%)]<\/span><\/th>\n<td>98.89(89\/90; 93.96\u201399.97)<\/td>\n<td>&gt; 99.99(19\/19; 82.35\u2013100)<\/td>\n<td>&gt; 99.99(9\/9; 66.37\u2013100)<\/td>\n<td>&gt; 99.99(5\/5; 47.82\u2013100)<\/td>\n<\/tr>\n<tr>\n<th>\u7279\u5f02\u6027<span class=\"nowrap\">[%(n\/N;95%)]<\/span><\/th>\n<td>99.73(2566\/2573; 99.44\u201399.89)<\/td>\n<td>99.84(2496\/2500; 99.59\u201399.96)<\/td>\n<td>99.76(2486\/2492; 99.48\u201399.91)<\/td>\n<td>99.80(2482\/2487; 99.53\u201399.93)<\/td>\n<\/tr>\n<tr>\n<th>PPV <span class=\"nowrap\">[%(n\/N)]<\/span><\/th>\n<td>92.7(89\/96)<\/td>\n<td>82.6(19\/23)<\/td>\n<td>60.0(9\/15)<\/td>\n<td>50.0(5\/10)<\/td>\n<\/tr>\n<tr>\n<th>\u7406\u8bba\u4e0a\u7684\u4f4ePPV <span class=\"nowrap\">[%(n\/N)]<\/span><\/th>\n<td>76.1(89\/117)<\/td>\n<td>55.9(19\/34)<\/td>\n<td>39.1(9\/23)<\/td>\n<td>38.5(5\/13)<\/td>\n<\/tr>\n<tr>\n<th>\u7406\u8bba\u4e0a\u7684\u9ad8\u7ea7PPV <span class=\"nowrap\">[%(n\/N)]<\/span><\/th>\n<td>94.0(110\/117)<\/td>\n<td>88.2(30\/34)<\/td>\n<td>73.9(17\/23)<\/td>\n<td>61.5(8\/13)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div><\/div>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%80%83%E5%AF%9F\"><\/span><strong>\u8003\u5bdf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b64\u5904\u663e\u793aVeriSeq NIPT\u89e3\u51b3\u65b9\u6848v2\u5206\u6790\u53ef\u4ee5\u6839\u636e\u5df2\u77e5\u7684\u4e34\u5e8a\u7ed3\u679c,\u4ee5\u9ad8\u7075\u654f\u5ea6\u548c\u7279\u5f02\u6027\u7b5b\u9009\u80ce\u513f\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u3002\u672c\u7814\u7a76\u62a5\u544a\u7684\u654f\u611f\u6027\u548c\u7279\u5f02\u6027\u4e0eGil\u7b49\u4eba\u6700\u8fd1\u7684\u835f\u8403\u5206\u6790\u4e2d\u53d1\u73b0\u7684\u4e00\u81f4\u3002[3] \u5373\u4f7f\u662f\u5728\u7814\u7a76\u4e2d,\u603b\u4f53\u7684\u6545\u969c\u7387\u4e5f\u5f88\u4f4e,\u4f4e\u4e8e1%\u3002\u5728\u4e34\u5e8a\u7814\u7a76\u4e2d\uff0c\u9633\u6027\u9884\u6d4b\u503c\u662f\u4e00\u4e2a\u91cd\u8981\u6307\u6807\uff0c\u5982\u679c\u53ef\u4ee5\u8fdb\u884c\u4e34\u5e8a\u8ffd\u8e2a,\u5219\u9700\u8981\u62a5\u544a\u5206\u6790\u65b9\u6cd5\u7684\u654f\u611f\u6027\u548c\u7279\u5f02\u6027\u3002\u5728\u6b64,\u4e34\u5e8a\u4e8b\u5b9e\u9002\u7528\u4e8e\u5927\u591a\u6570\u9ad8\u5371\u75c5\u4f8b\u3002\u672c\u7814\u7a76\u53d1\u73b0PPV\u6c34\u5e73\u8f83\u9ad8,\u4e0e\u4e4b\u524d\u7684\u7814\u7a76\u76f8\u4f3c [22,24,38] ,\u5c24\u5176\u662f\u572821\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u548c18\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u75c5\u4f8b\u4e2d\u66f4\u662f\u5982\u6b64\u3002\u5bf9\u4f4e\u98ce\u9669\u75c5\u4f8b\u7684\u6709\u9650\u8ffd\u8e2a\u7814\u7a76\u53d1\u73b0\u4e00\u4f8b\u5047\u9634\u6027\u75c5\u4f8b\u88ab\u786e\u5b9a\u4e3a21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u3002<br>\u6b64\u5916,\u8fd8\u7814\u7a76\u4e86\u60a3\u8005\u7279\u5f81\u5bf9\u7814\u7a76\u7ed3\u679c\u7684\u5f71\u54cd\u3002\u5728\u80ce\u9f84\u548c\u80ce\u513f\u6bd4\u4f8b\u4e4b\u95f4\u89c2\u5bdf\u5230\u5448\u6b63\u76f8\u5173\u6027\u3002\u5728\u4e4b\u524d\u7684\u4e00\u4e9b\u7814\u7a76\u4e2d\u6307\u51fa\u4e86\u8fd9\u4e00\u70b9[24\u300130\u300131]\u3002\u6b63\u5982\u9884\u60f3\u7684\u90a3\u6837\uff0c\u6000\u5b55\u5468\u6570\u548cBMI\u4e4b\u95f4\u53d1\u73b0\u4e86\u6b63\u6bd4\u5173\u7cfb\u3002\u6b64\u5916,\u8fd8\u6ce8\u610f\u5230\u572818-\u4e09\u4f53\u7efc\u5408\u75c7\u548c13-\u4e09\u4f53\u7efc\u5408\u75c7\u5747\u4e3a\u9633\u6027\u7684\u7b5b\u67e5\u75c5\u4f8b\u4e2d,\u80ce\u513f\u7684\u6bd4\u4f8b\u660e\u663e\u8f83\u4f4e\u3002\u7531\u4e8eNIPT\u5206\u6790\u4e2d\u5206\u6790\u7684cfDNA\u6765\u81ea\u80ce\u76d8\uff0c\u5148\u524d\u62a5\u544a\u7684\u6000\u5b55\u671f\u95f4\u8f83\u5c0f\u7684\u80ce\u76d8\u4f53\u79ef\u5f71\u54cd\u4e8618-\u4e09\u4f53\u7efc\u5408\u75c7\u621613-\u4e09\u4f53\u7efc\u5408\u75c7 [39] ,\u8fd9\u53ef\u80fd\u662f\u5728\u8fd9\u4e9b\u4e09\u4f53\u7efc\u5408\u75c7\u72b6\u6001\u7814\u7a76\u4e2d\u89c2\u5bdf\u5230\u7684FF\u6c34\u5e73\u964d\u4f4e\u7684\u539f\u56e0\u3002<\/p>\n\n\n\n<p>\u6211\u4eec\u7814\u7a76\u7684\u4f18\u52bf\u4e4b\u4e00\u662f\u6d89\u53ca\u5230\u6765\u81ea\u666e\u901a\u6000\u5b55\u4eba\u7fa4\u7684\u5927\u91cf\u60a3\u8005,\u5e76\u4e3aNIPT\u5728\u8be5\u4eba\u7fa4\u4e2d\u7684\u6709\u6548\u6027\u63d0\u4f9b\u4e86\u8fdb\u4e00\u6b65\u7684\u8bc1\u636e\u3002\u8be5NIPT\u5206\u6790\u663e\u793a\u51fa\u9ad8\u6d4b\u8bd5\u6027\u80fd\uff0c\u5e76\u4e14\u5df2\u7ecf\u62a5\u544a\u4e86NIPT\u9633\u6027\u75c5\u4f8b\u7684\u9ad8\u7075\u654f\u5ea6,\u7279\u5f02\u6027\u548cPPV\u3002\u8be5\u62a5\u544a\u8fd8\u6307\u51fa,\u5bf9\u4e8e\u9996\u6b21\u8840\u6837\u672a\u83b7\u5f97\u7ed3\u679c\u7684\u6837\u672c,\u5728\u7b2c\u4e8c\u6b21\u8840\u6837\u590d\u67e5\u540e,\u5206\u6790\u5931\u8d25\u7387\u4f4e\u4e8e1%\u3002\u4f4e\u5931\u8d25\u7387\u662fNIPT\u5206\u6790\u7684\u4e00\u9879\u91cd\u8981\u529f\u80fd\uff0c\u56e0\u4e3a\u60a3\u8005\u4e0d\u9700\u8981\u5728\u6ca1\u6709NIPT\u7ed3\u679c\u7684\u60c5\u51b5\u4e0b\u51b3\u5b9a\u662f\u5426\u8fdb\u884c\u4fb5\u5165\u6027\u8bca\u65ad\u6d4b\u8bd5\uff0c\u5e76\u53ef\u80fd\u589e\u52a0\u7236\u6bcd\u7684\u7126\u8651\u3002\u4e13\u5bb6\u534f\u4f1a\u901a\u5e38\u5efa\u8bae\u5c06\u5931\u8d25\u7684NIPT\u793a\u4f8b\u89c6\u4e3a\u9ad8\u98ce\u9669[4\u300140\u300141]\u3002\u6211\u4eec\u7814\u7a76\u7684\u5c40\u9650\u6027\u5728\u4e8e\uff0c\u7531\u4e8e\u7814\u7a76\u7684\u56de\u6eaf\u6027,\u6211\u4eec\u65e0\u6cd5\u6c47\u62a5\u5168\u57fa\u56e0\u7ec4\u5206\u6790\u7684\u5176\u4ed6\u53d1\u73b0\u3002\u8fd9\u610f\u5473\u7740\u6211\u4eec\u65e0\u6cd5\u63d0\u4f9b\u4e0e\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u548c\u90e8\u5206\u7f3a\u5931\u548c\u91cd\u590d\u7b5b\u9009\u76f8\u5173\u7684\u6027\u80fd\u6570\u636e\u3002NIPT\u5206\u6790\u5728\u6781\u4f4e\u80ce\u513f\u6bd4\u4f8b\u65f6\u7b5b\u9009\u80ce\u513f\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u7684\u80fd\u529b\u975e\u5e38\u91cd\u8981 [42] ,\u56e0\u4e3a\u80ce\u513f\u6bd4\u4f8b\u4f4e\u4e0e\u6709\u5bb3\u7ed3\u679c\u76f8\u5173 [42] \u3002\u7136\u800c\uff0c\u6211\u4eec\u7684\u7814\u7a76\u6837\u672c\u6570\u91cf\u8f83\u5c11,\u80ce\u513f\u6bd4\u4f8b\u4f4e\u4e8e4%,\u56e0\u6b64\u4e0d\u53ef\u80fd\u5bf9\u8fd9\u4e9b\u4f4e\u6c34\u5e73\u7684FF\u6027\u80fd\u505a\u51fa\u6709\u610f\u4e49\u7684\u5206\u6790\u3002\u8be5\u7814\u7a76\u7684\u53e6\u4e00\u4e2a\u9650\u5236\u662fNIPT\u7ed3\u679c\u4e3a\u9634\u6027\u7684\u75c5\u4f8b\u7684\u7ed3\u679c\u4fe1\u606f\u6709\u9650\u3002\u8fd9\u4e0e\u8bb8\u591a\u5176\u4ed6\u5df2\u53d1\u8868\u7684NIPT\u7814\u7a76\u4e00\u81f4[22\u300124]\u3002<\/p>\n\n\n\n<p>\u7531\u4e8eNIPT\u4fdd\u9669\u76ee\u524d\u5728\u5fb7\u56fd\u5c1a\u672a\u5b9e\u65bd,\u56e0\u6b64\u60a3\u8005\u5fc5\u987b\u81ea\u884c\u652f\u4ed8NIPT\u8d39\u7528,\u8fd9\u5728\u5927\u591a\u6570\u60c5\u51b5\u4e0b\u53ef\u80fd\u662f\u6602\u8d35\u7684\u3002\u7136\u800c\uff0c\u5fb7\u56fd\u516c\u5171\u57fa\u91d1\u533b\u7597\u4fdd\u9669\u7cfb\u7edf\u8ba1\u5212\u6db5\u76d621\u300113\u548c18\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7NIPT,\u7528\u4e8e\u9700\u8981\u66f4\u591a\u76d1\u63a7\u7684\u7279\u6b8a\u6000\u5b55\u548c\u7279\u6b8a\u98ce\u9669\u6000\u5b55\u3002NIPT\u5728\u56fd\u5bb6\u8303\u56f4\u5185\u63a8\u51fa\u7684\u5065\u5eb7\u4fdd\u9669\u5927\u5927\u589e\u52a0\u4e86\u8fd9\u7c7b\u80ce\u513f\u975e\u6574\u500d\u6027\u9ad8\u5371\u5987\u5973\u7684\u4ea7\u524d\u68c0\u67e5\u66f4\u65b0 [43,44] \u3002\u91cd\u8981\u7684\u662f\u544a\u77e5\u60a3\u8005NIPT\u4e0d\u662f\u8bca\u65ad\u6027\u68c0\u67e5,\u5e76\u4e14\u9700\u8981\u901a\u8fc7\u4fb5\u5165\u6027\u8bca\u65ad\u65b9\u6cd5 (\u5982CVS\u6216\u7f8a\u819c\u7a7f\u523a\u672f) \u786e\u8ba4\u9ad8\u98ce\u9669NIPT\u8c03\u7528\u3002\u5f02\u5e38\u7684\u8d85\u58f0\u6ce2\u68c0\u67e5\u540e\u53d1\u73b0\u9ad8\u98ce\u9669\u7684\u60a3\u8005\u5e94\u63a5\u53d7\u4fb5\u5165\u6027\u8bca\u65ad\u65b9\u6cd5,\u4ee5\u907f\u514d\u7531\u4e8e\u6709\u9650\u7684\u80ce\u76d8\u5d4c\u5408\u4f53\u7b49\u539f\u56e0\u53ef\u80fd\u51fa\u73b0\u7684NIPT\u7ed3\u679c [45] \u3002<br>\u603b\u800c\u8a00\u4e4b, VeriSeq NIPT\u89e3\u51b3\u65b9\u6848v2\u5206\u6790\u65b9\u6cd5\u5728\u68c0\u6d4b\u6211\u4eec\u7684\u5927\u89c4\u6a21\u4eba\u7fa4\u4e2d\u7684\u80ce\u513f\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u65b9\u9762\u663e\u793a\u51fa\u5f3a\u5927\u7684\u6027\u80fd\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"600\" height=\"375\" src=\"https:\/\/hiro-clinic.or.jp\/nipt\/wp-content\/uploads\/2020\/11\/ppv_values_for_high-risk_cases_for_cases_with_fetal_fractions.png\" alt=\"\" class=\"wp-image-7241\"\/><figcaption class=\"wp-element-caption\">\u56fe3 \u80ce\u513f\u5206\u7ea7&lt;4%,4-8%,&gt;8%\u9ad8\u5371\u75c5\u4f8b\u7684PPV\u503c<\/figcaption><\/figure>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%84%9F%E8%B0%A2\"><\/span><strong>\u611f\u8c22<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u6587\u4f5c\u8005\u611f\u8c22CosminDeciu\u548cSarahKinnings (Illumina\u516c\u53f8) \u4e3a\u8be5\u9879\u76ee\u63d0\u4f9b\u5408\u4f5c, KristineJinnett\u548cKirstenCurnow (Illumina\u516c\u53f8) \u534f\u52a9\u64b0\u5199\u624b\u7a3f\u3002WolfKupatt\u548cChristophKeck (amedes) \u4e00\u76f4\u4ee5\u5353\u8d8a\u7684\u65b9\u5f0f\u652f\u6301\u5e76\u63a8\u52a8NIPT\u9879\u76ee\u3002\u6211\u4eec\u4e5f\u611f\u8c22\u8bb8\u591a\u5987\u79d1\u533b\u751f\u63d0\u4f9b\u4e86\u6709\u5173\u80ce\u513f\u9884\u540e\u7684\u5b9d\u8d35\u4fe1\u606f\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BD%9C%E8%80%85%E7%9A%84%E8%B4%A1%E7%8C%AE\"><\/span><strong>\u4f5c\u8005\u7684\u8d21\u732e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6570\u636e\u5206\u6790\u548c\u7eb8\u9762\u51c6\u5907\u7531HB\u548cBE\u5b8c\u6210\u3002\u6570\u636e\u5206\u6790\u534f\u52a9\u7531NK\u3001AT\u548cSK\u63d0\u4f9b\u3002\u8bba\u6587\u7684\u51c6\u5907\u548c\u8ba8\u8bba\u5f97\u5230\u4e86RG\u548cTW\u7684\u534f\u52a9\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%B5%84%E9%87%91%E7%AD%B9%E9%9B%86\"><\/span><strong>\u8d44\u91d1\u7b79\u96c6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Illumina\u516c\u53f8\u63d0\u4f9b\u4e86\u6570\u636e\u5206\u6790\u548c\u7eb8\u9762\u51c6\u5907\u65b9\u9762\u7684\u534f\u52a9\u3002<\/p>\n<\/div><\/div>\n\n\n\n<hr class=\"wp-block-separator has-css-opacity\"\/>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%B5%E5%AE%88%E8%81%8C%E4%B8%9A%E9%81%93%E5%BE%B7%E8%A7%84%E8%8C%83\"><\/span><strong>\u9075\u5b88\u804c\u4e1a\u9053\u5fb7\u89c4\u8303<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%A9%E7%9B%8A%E5%86%B2%E7%AA%81\"><\/span><strong>\u5229\u76ca\u51b2\u7a81<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u6587\u4f5c\u8005\u58f0\u660e\u6ca1\u6709\u5229\u76ca\u51b2\u7a81\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BC%A6%E7%90%86%E8%AE%A4%E5%8F%AF\"><\/span><strong>\u4f26\u7406\u8ba4\u53ef<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Amedes\u9075\u5b88\u8054\u90a6\u6570\u636e\u4fdd\u62a4\u6cd5\u7684\u89c4\u5b9a\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%90%8C%E6%84%8F%E5%8F%82%E5%8A%A0\"><\/span><strong>\u540c\u610f\u53c2\u52a0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u60a3\u8005\u7684\u540c\u610f\u6765\u81ea\u53c2\u4e0e\u7814\u7a76\u7684\u6240\u6709\u60a3\u8005\uff0c\u4ee5\u4f7f\u7528\u6570\u636e\u5bf9NIPT\u5206\u6790\u65b9\u6cd5\u8fdb\u884c\u9002\u5f53\u7684\u8d28\u91cf\u63a7\u5236\u548c\u6539\u8fdb\u3002\u6b64\u5916\uff0c\u6240\u6709\u6570\u636e\u5728\u88ab\u7eb3\u5165\u8c03\u67e5\u4e4b\u524d\u90fd\u662f\u533f\u540d\u7684\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AA%E5%BC%80%E6%94%BE%E5%AD%98%E5%8F%96\"><\/span>\u30aa<strong>\u5f00\u653e\u5b58\u53d6<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u6587\u53d7Creative Commons Display 4.0\u56fd\u9645\u8bb8\u53ef\u6388\u6743\uff0c\u5141\u8bb8\u4ee5\u4efb\u4f55\u5a92\u4f53\u6216\u683c\u5f0f\u4f7f\u7528\u3001\u5171\u4eab\u3001\u6539\u7f16\u3001\u5206\u53d1\u548c\u590d\u5236\u672c\u6587\uff0c\u53ea\u8981\u60a8\u5411\u539f\u59cb\u4f5c\u8005\u548c\u6765\u6e90\u63d0\u4f9b\u4e86\u9002\u5f53\u7684\u7248\u6743\u3002\u94fe\u63a5\u5230Creative Commons\u8bb8\u53ef\u8bc1,\u5e76\u6307\u660e\u662f\u5426\u8fdb\u884c\u4e86\u66f4\u6539\u3002\u672c\u6587\u4e2d\u7684\u56fe\u7247\u6216\u5176\u4ed6\u7b2c\u4e09\u65b9\u8d44\u6599\u5305\u542b\u5728\u6587\u7ae0\u7684\u77e5\u8bc6\u5171\u4eab\u8bb8\u53ef\u4e2d\uff0c\u9664\u975e\u8d44\u6599\u7684\u4fe1\u7528\u8bb0\u5f55\u4e2d\u53e6\u6709\u8bf4\u660e\u3002\u5982\u679c\u8d44\u6599\u672a\u5305\u542b\u5728\u6587\u7ae0\u7684\u201c\u77e5\u8bc6\u5171\u4eab\u201d\u8bb8\u53ef\u4e2d,\u5e76\u4e14\u9884\u671f\u7528\u9014\u672a\u5f97\u5230\u6cd5\u5f8b\u8bb8\u53ef\u6216\u8d85\u51fa\u8bb8\u53ef\u7528\u9014,\u5219\u5fc5\u987b\u76f4\u63a5\u83b7\u5f97\u7248\u6743\u6240\u6709\u8005\u7684\u8bb8\u53ef\u3002\u8981\u67e5\u770b\u6b64\u8bb8\u53ef\u8bc1\u7684\u526f\u672c\uff0c\u8bf7\u8bbf\u95eehttp:\/\/creativecommons.org\/licenses\/by\/4.0\/\u3002<\/p>\n<\/div><\/div>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<div class=\"wp-block-group\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span><strong>\u53c2\u8003\u6587\u732e<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ol><li>Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS (1997) \u6bcd\u4f53\u8840\u6d46\u548c\u8840\u6e05\u4e2d\u80ce\u513fDNA\u7684\u5b58\u5728\u3002 Lancet 350(9076):485-487. https:\/\/doi.org\/10.1016\/s0140-6736(97)02174-0<\/li>\n<li>Norton ME, Baer RJ, Wapner RJ, Kuppermann M, JellifPawlowski LL, Currier RJ (2016) \u8fde\u7eed\u7b5b\u9009\u68c0\u6d4b\u65e0\u7ec6\u80deDNA\u4e0e\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\u3002 Am J Obstet Gynecol 214(6):727\u2013726. https:\/\/doi.org\/10.1016\/j.ajog.2015.12.018<\/li>\n<li>Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH (2017) \u5f02\u500d\u4f53\u7b5b\u9009\u4e2d\u6bcd\u4f53\u8840\u6db2\u4e2d\u65e0\u7ec6\u80deDNA\u7684\u5206\u6790:\u6700\u65b0\u7684\u835f\u8403\u5206\u6790\u3002\u8d85\u58f0\u6ce2\u5987\u4ea7\u79d150(3):302-314\u3002 https:\/\/doi.org\/10.1002\/uog.17484<\/li>\n<li>Benn P\u3001Borrell A\u3001Chiu RW\u3001Cuckle H\u3001Dugoff L\u3001Faas B\u3001Gross S\u3001Huang T\u3001Johnson J\u3001Maymon R\u3001Norton M\u3001Odibo A\u3001Schielen P\u3001Spencer K\u3001Wright D\u3001Yaron Y (2015) Chromosome Abnormality Screening Committee\u8868\u660e\u4e86\u7b5b\u67e5\u59d4\u5458\u4f1a\u67d3\u8272\u4f53\u5f02\u5e38\u7b5b\u67e5\u59d4\u5458\u4f1a\u7684\u7acb\u573a\u3002\u598a\u5a20\u671f35(8):725-734\u3002 https:\/\/doi.org\/10.1002\/pd.4608<\/li>\n<li>Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS (2016)  \u80ce\u513f\u975e\u6574\u500d\u6027\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u7b5b\u67e5\uff0c 2016\u5e74\u4fee\u8ba2:\u7f8e\u56fd\u533b\u5b66\u9057\u4f20\u5b66\u4e0e\u9057\u4f20\u5b66\u5b66\u9662\u7684\u7acb\u573a\u58f0\u660e\u3002\u9057\u4f20\u57fa\u56e0\u6ee1\u8db3\u3002 https:\/\/doi.org\/10.1038\/ gim.2016.97<\/li>\n<li>Dondorp W, de Wert G, Bornchi DW, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller A, Tibben A, Tibben Jaerg L, Tranebjaerg L, van El CG, Cornel MC, European Society of Human G, American Society of Human G (2015)  \u975e\u6574\u500d\u6027\u548c\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5:\u4ea7\u524d\u68c0\u67e5\u7684\u8d23\u4efb\u521b\u65b0\u6311\u6218\u3002 Eur J Hum Genet 23(11):1438\u20131450. https:\/\/doi.org\/10.1038\/ejhg.2015.57<\/li>\n<li>Deutsche Deutscheft Humangenetik\u4f7f\u7528MUTterlichen Blut\u5206\u6790DNA\u3002https:\/\/www.\u0418gfhev.de\/leitlinien.2013.\n<\/li>\n<li>Kozlowski P, Burkhardt T, Gombruch U, Gonser M, Kahler C, Kagan KO, von Kaisenberg C, Klaritsch P, Merz E, Steiner H, Tercanli S, Vetter K, Schramm T (2019) DEGUM, OGUM, SGUM, FMF Germany\u7684\u63a8\u8350\u4e8b\u9879,\u8be6\u7ec6\u7684\u8d85\u58f0\u6ce2\u68c0\u67e5,\u65e0\u7ec6\u80deDNA\u7b5b\u67e5,\u8bca\u65ad\u7a0b\u5e8f\u3002 Ultraschall Med 40(2):176\u2013193. https:\/\/doi.org\/10.1055\/a-0631-8898<\/li>\n<li>Schmid M\u3001Klaritsch P\u3001Arzsch W\u3001Burkhardt T\u3001Duba HC\u3001Hausler M\u3001Hafner E\u3001Lang U\u3001Pertl B\u3001Speicher M\u3001Steiner H\u3001Tercanli S\u3001Merz E\u3001Heling KS\u3001Eiben B(2015)\u4e34\u5e8a\u65e0\u7ec6\u80deDNA\u68c0\u6d4b\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38:\u5965\u5730\u5229-\u5fb7\u56fd-\u745e\u58eb\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>) \u7684\u5efa\u8bae\u3002 Ultraschall Med 36(5):507\u2013510. https:\/\/doi.org\/10.1055\/s-0035-1553804<\/li>\n<li>Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G (2012) \u5728\u5e38\u89c4\u7b5b\u67e5\u7684\u6000\u5b55\u65e9\u671f\u4eba\u7fa4\u4e2d\u8fdb\u884c\u80ce\u513f\u4e09\u4f53\u6027\u7684\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5\u3002 Am J Obstet Gynecol 207(5):374.e371-376. https:\/\/doi.org\/10.1016\/j.ajog.2012.08.033<\/li>\n<li>\u901a\u8fc7\u5bf9Palomaki GE\u3001Deciu C\u3001Kloza EM\u3001Lambert-MesserlianGM\u3001Haddow JE\u3001Neveux LM\u3001Ehrich M\u3001van den Boom D\u3001Bombard AT\u3001Grody WW\u3001Nelson SF\u3001Canick JA (2012) \u6bcd\u4f53\u8840\u6e05\u8fdb\u884cDNA\u6d4b\u5e8f,\u786e\u5b9a\u4e8618-\u4e09\u4f53\u6027\u548c13-\u4e09\u4f53\u6027\u4ee5\u53ca\u5510\u6c0f\u7efc\u5408\u75c7:\u56fd\u9645\u5408\u4f5c\u7814\u7a76\u3002\u57fa\u56e0\u7b26\u540814 (3) :296-305\u3002https:\/\/doi.org\/10.1038\/gim.2011.73<\/li>\n<li>Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, Hall MP, Westemeyer M, Saucier J, Demko Z, Rabinowitz M (2013) \u57fa\u4e8eSNP\u7684\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5\u53ef\u9ad8\u7cbe\u5ea6\u5730\u68c0\u6d4b\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u3002\u5b55\u671f33(7):643-649\u3002 https:\/\/doi.org\/10.1002\/pd.4159<\/li>\n<li>\u901a\u8fc7\u5bf9\u5b55\u4ea7\u5987AR, Dzakula Z, Oeth P, Wang H, Jensen T, Tynan J, McCullough R, Saldivar JS, Ehrigh M, van den Boom D, Bombard AT, Maeder M, McLennan G, Meschino W, Palomaki GE, Canick JA, Deciu C (2013) \u6bcd\u4f53\u8840\u6db2\u4e2d\u7684\u65e0\u6027\u7ec6\u80deDNA\u8fdb\u884c\u6d4b\u5e8f,\u65e0\u521b\u6027\u5730\u68c0\u6d4b\u51fa\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u3002\u5b55\u671f33 (6) :591 -597\u3002 https:\/\/doi.org\/10.1002\/pd.4127<\/li>\n<li>Wapner RJ, Babiarz JE, Levy B, Stosic M, Zimmermann B, Sigurjonson S, Wayham N, Ryan A, Banjevic M, Lacroute P, Hu J, Hall MP, Demko Z, Siddiqui A, Rabinowitz M, Gross SJ, Hill M, Benn P (2015)  \u6269\u5927\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5\u7684\u8303\u56f4:\u68c0\u6d4b\u80ce\u513f\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u3002 Am J Obstet Gynecol 212(3):332\u2013339. https:\/\/doi.org\/10.1016\/j.ajog.2014.11.041<\/li>\n<li>\u57fa\u4e8e\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\u7684\u65e0\u521b\u4ea7\u524d\u7b5b\u67e5\u5bf9Gross SJ, Stosic M,McDonald-McGinnDM, Bassett AS, Norvez A, Dhamankar R, Kobara K, Kirkizla E, Zimmermann B, Wayham rJE, Babiarz JE, Ryan A, Jinnett KN, Denko Z, Benn P (2016) 22 q 11.2\u7f3a\u5931\u7efc\u5408\u75c7\u7684\u4e34\u5e8a\u7ecf\u9a8c\u3002\u8d85\u58f0\u6ce2\u5987\u4ea7\u79d147(2):177-183\u3002 https<\/li>\n<li>https:\/\/doi.org\/10.1002\/uog.15754<\/li>\n<li>\u6bcd\u4f53\u8840\u6d46DNA\u6d4b\u5e8f\u8bc1\u5b9e\u4e86Pertile MD,Halks-MillerM, Flowers N, Barbacioru C, Kinnings SL, Vavrek D, Seltzer WK, Bianchi DW (2017) \u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u4e09\u4f53\u6027,\u5e76\u63d0\u793a\u80ce\u513f\u80ce\u76d8\u75be\u75c5\u7684\u98ce\u9669\u589e\u52a0\u3002\u79d1\u5b66\u8f6c\u79fb\u7801 https:\/\/doi.org\/10.1126\/scitranslmed.aan1240<\/li>\n<li>Fiorentino F, Bono S, Pizzuti F, Duca S, Polverari A, Faieta M, Baldi M, Diano L, Spinella F (2017) \u5168\u57fa\u56e0\u7ec4\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u7b5b\u67e5\u7684\u4e34\u5e8a\u5e94\u7528 \u5b55\u671f37(6):593-601\u3002 https:\/\/doi.org\/10.1002\/pd.5053<\/li>\n<li>Liang D, Lin Y, Qiao F, Li H, Wang Y, Zhang J, Liu A, Ji X, Ma D, Jiang T, Hu P, Xu Z (2018) \u8d85\u8fc732,000\u540d\u5973\u6027\u65e0\u7ec6\u80deDNA\u7b5b\u67e5\u540e\u7684\u56f4\u4ea7\u671f\u7ed3\u679c:\u6765\u81ea\u5355\u4e00\u4e09\u7ea7\u673a\u6784\u7684\u4e34\u5e8a\u968f\u8bbf\u6570\u636e\u3002\u5b55\u671f38(10):755-764\u3002 https:\/\/doi.org\/10.1002\/pd.5328<\/li>\n<li>Scott F\u3001Bonifacio M\u3001Sandow R\u3001Ellis K\u3001Smet ME\u3001McLennan A (2018) \u5c11\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u4e09\u4f53:\u91cd\u8981\u4e14\u5c11\u89c1\u3002\u5b55\u671f38(10):765-771\u3002 https:\/\/doi.org\/10.1002\/pd.5325<\/li>\n<li>Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP (2011) \u901a\u8fc7\u4ece\u6bcd\u4f53\u8840\u6db2\u4e2d\u5927\u89c4\u6a21\u5e73\u884c\u6d4b\u5e8f\u65e0\u7ec6\u80de\u80ce\u513fDNA\u6765\u6700\u4f73\u68c0\u6d4b\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38 \u514b\u6797\u59c657(7):1042-1049 https<\/li>\n<li>https:\/\/doi.org\/10.1373\/clinchem.2011.165910<\/li>\n<li>Ehrich M\u3001Zwiefhofer T\u3001Tynan JA\u3001Tynan L\u3001Tim R\u3001Lu V\u3001McCullough R\u3001McCarthy E\u3001Nygren AO\u3001Dean J\u3001Tang L\u3001Hu T\u3001Wang H\u3001Angkachatchai V\u3001Oeth P\u3001Cantor CR\u3001Bombard A\u3001van den Boom D(2011)\u901a\u8fc7\u5bf9\u6bcd\u4f53\u8840\u6db2\u4e2d\u7684DNA\u8fdb\u884c\u6d4b\u5e8f\u6765\u65e0\u521b\u68c0\u6d4b\u80ce\u513f21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7:\u4e34\u5e8a\u60c5\u51b5\u7684\u7814\u7a76\u3002 Am J Obstet Gynecol 204(3):205\u2013211. https:\/\/doi.org\/10.1016\/j.ajog.2010.12.060<\/li>\n<li>Taneja PA, Snyder HL, de Feo E, Kruglyak KM, Halks-Miller M, Curnow KJ, Bhatt S (2016)\u4e00\u822c\u4ea7\u79d1\u4eba\u7fa4\u7684\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5:\u4e34\u5e8a\u8868\u73b0\u548c85,000\u4f8b\u4ee5\u4e0a\u75c5\u4f8b\u7684\u54a8\u8be2\u6ce8\u610f\u4e8b\u9879\u3002\u5b55\u671f36(3):237-243\u3002 https:\/\/doi.org\/10.1002\/pd.4766<\/li>\n<li>Pergament E\u3001Cuckle H\u3001Zimmermann B\u3001Banjevic M\u3001Sigurjonson S\u3001Ryan A\u3001Hall MP\u3001Dodd M\u3001Lacroute P\u3001Stosic M\u3001Chopra N\u3001Hunkapiller N\u3001Prosen DE\u3001McAdoo S\u3001Demko Z\u3001Siddiqui A\u3001Hill M\u3001Rabinowitz M(2014)\u57fa\u4e8e\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\u7684\u4ea7\u524d\u7b5b\u67e5\u9ad8\u98ce\u9669\u548c\u4f4e\u98ce\u9669\u961f\u5217\u3002\u5987\u4ea7\u79d1124(2 Pt 1):210\uff5e218\u3002 https:\/\/doi.org\/10.1097\/aog.0000000000000363<\/li>\n<li>Dar P\u3001Curnow KJ\u3001Gross SJ\u3001Hall MP\u3001Stosic M\u3001Demmko Z\u3001Zimmermann B\u3001Hill M\u3001Sigurjonson S\u3001Ryan A\u3001Banjevic M\u3001Kolacki PL\u3001Koch SW\u3001Strom CM\u3001Rabinowitz M\u3001Benn P (2014) \u57fa\u4e8e\u5927\u89c4\u6a21\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\u7684\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u975e\u6574\u500d\u6027\u68c0\u67e5\u7684\u4e34\u5e8a\u7ecf\u9a8c\u548c\u8ffd\u8e2a\u3002 Am J Obstet Gynecol 211(5):527.e521\u2013517. https:\/\/doi.org\/10.1016\/j.ajog.2014.08.006<\/li>\n<li>Juneau K\u3001Bogard PE\u3001Huang S\u3001Mohseni M\u3001Wang ET\u3001Ryvkin P\u3001Kingsley C\u3001Struble CA\u3001Oliphant A\u3001Zahn JM(2014)\u57fa\u4e8e\u5fae\u9635\u5217\u7684\u65e0\u7ec6\u80deDNA\u5206\u6790\u6539\u5584\u4e86\u65e0\u521b\u4ea7\u524d\u68c0\u67e5\u3002\u80ce\u513f\u8bca\u65ad36(4):282-286\u3002 https:\/\/doi.\u2981 org\/10.1159\/000367626<\/li>\n<li>Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR (2010) \u901a\u8fc7\u914d\u5bf9\u672b\u7aef\u6d4b\u5e8f\u5206\u6790\u80ce\u513f\u548c\u6bcd\u4f53\u65e0\u7ec6\u80deDNA\u7684\u5927\u5c0f\u5206\u5e03 \u514b\u6797\u59c656(8):1279-1286 https:\/\/doi.org\/10.1373\/clinchem.2010.144188<\/li>\n<li>Yu SC, Chan YW, Zheng YW, Jiang P, Liao GJ, Sun H, Akolekar R, Leung TY, Go AT, van Vugt JM, Minekawa R, Oudejans CB, Nicolaides KH, Chiu RW, Lo YM (2014) \u4f7f\u7528\u8840\u6d46DNA\u7684\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5\u7684\u5206\u5b50\u8bca\u65ad\u3002Proc Natl Acad Sci USA 111(23):8583\u20138588. https:\/\/doi.org\/10.1073\/pnas.14061031111<\/li>\n<li>Cirigliano V, Ordonez E, Rueda L, Syngelaki A, Nicolaides KH (2017) Performance\u8d85\u58f0\u6ce2\u5987\u79d149 (4) :460-464\u3002 https:\/\/doi.org\/10.1002\/uog.17386<\/li>\n<li>Hui L, Bianchi DW (2020) \u80ce\u513f\u5206\u7ea7\u548c\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5:\u4e34\u5e8a\u533b\u751f\u9700\u8981\u77e5\u9053\u3002\u6000\u5b55\u8bca\u65ad40(2):155-163\u3002 https:\/\/doi.org\/10.1002\/pd.5620<\/li>\n<li>Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A (2013) \u5b55\u9f84\u548c\u6bcd\u4f53\u4f53\u91cd\u5bf9\u6bcd\u4f53\u8840\u6d46\u4e2d\u80ce\u513f\u65e0\u7ec6\u80deDNA\u7684\u5f71\u54cd \u5b55\u671f33(7):662-666\u3002 https:\/\/doi.org\/10.1002\/pd.4119<\/li>\n<li>Scott FP\u3001Menezes M\u3001Palma-Dias R\u3001Nisbet D\u3001Schluter P\u3001da Silva CF\u3001McLennan AC (2017) \u5f71\u54cd\u4e0d\u7ec6\u80deDNA\u80ce\u513f\u5206\u7ea7\u548c\u68c0\u67e5\u51c6\u786e\u6027\u7ed3\u679c\u7684\u56e0\u7d20 J Matern Fetal Neonatal Med. https:\/\/doi.org\/10.1080\/14767 058.2017.1330881<\/li>\n<li>Ryan A, Hunkapiller N, Banjevic M, Vankayalapati N, Fong N, Jinnett KN, Demko Z, Zimmermann B, Sigurjonson S, Gross SJ, Hill M (2016) \u57fa\u4e8e\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\u7684\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5\u589e\u5f3a\u7248\u7528\u4e8e\u80ce\u513f\u975e\u6574\u500d\u6027\u68c0\u6d4b\u80ce\u513f\u8bca\u65ad\u7684\u9a8c\u8bc140(3):219-223\u3002 https:\/\/doi.org\/10.1159\/000442931<\/li>\n<li>Norton ME\u3001Jacobsson B\u3001Swamy GK\u3001Laurent LC\u3001Ranzini AC\u3001Brar H\u3001Tomlinson MW\u3001Pereira L\u3001Spitz JL\u3001Hollemon D\u3001Cuckle H\u3001Musci TJ\u3001Wapner RJ(2015)\u65e0\u7ec6\u80deDNA\u5206\u6790\u7528\u4e8e\u975e\u4fb5\u5165\u6027\u4e09\u4f53\u6027\u68c0\u67e5\u3002 N Engl J Med 372(17):1589-1597\u3002 https:\/\/doi.org\/10.1056\/NEJMoa1407349<\/li>\n<li>Fiorentino F, Bono S, Pizzuti F, Mariano M, Polverari A, Duca S, Sessa M, Baldi M, Diano L, Spinella F (2016) \u7684\u91cd\u8981\u6027<\/li>\n<li>\u65e0\u521b\u4ea7\u524d\u68c0\u67e5\u68c0\u6d4b\u9650\u7684\u786e\u5b9a \u5b55\u671f36(4):304-311\u3002 https:\/\/doi.org\/10.1002\/pd.4780<\/li>\n<li>Eiben B\u3001Krapp M\u3001Borth H\u3001Kutur N\u3001Kreiselmailer P\u3001Glaubitz R\u3001Deutinger J\u3001Merz E(2015)\u5fb7\u56fd\u548c\u5965\u5730\u52293,000\u4f8b\u65e0\u7ec6\u80de\u80ce\u513fDNA\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\u5206\u6790\u3002\u8d85\u58f0\u6ce2Int Open 1(1):E8-E11\u3002 https:\/\/doi.org\/10.1055\/s-0035-1555765<\/li>\n<li>Kim SK, Hannum G, Geis J, Tynan J, Hogg G, Zhao C, Jensen TJ, Mazloom AR, Oeth P, Ehrich M, van den Boom D, Deciu C (2015) \u4f7f\u7528\u5e8f\u5217\u8bfb\u6570\u6d4b\u91cf\u5b55\u5987\u8840\u6d46\u4e2d\u80ce\u513fDNA\u7684\u5206\u6570 \u5b55\u671f35(8):810-815\u3002 https:\/\/doi.org\/10.1002\/pd.4615<\/li>\n<li>Chan KC, Zhang J, Hui AB, Wong N, Lau TK, Leung TN, Lo KW, Huang DW, Lo YM (2004) \u6bcd\u4f53\u8840\u6d46\u4e2d\u6bcd\u4f53\u548c\u80ce\u513fDNA\u7684\u5927\u5c0f\u5206\u5e03\u3002\u514b\u6797\u59c650(1):88-92 https<\/li>\n<li>https:\/\/doi.org\/10.1373\/clinchem.2003.024893<\/li>\n<li>Xu L\u3001Huang H\u3001Lin N\u3001Wang Y\u3001He D\u3001Zhang M\u3001Chen M\u3001Chen L\u3001Lin Y(2019)\u65e0\u521b\u65e0\u7ec6\u80de\u80ce\u513fDNA\u68c0\u6d4b:\u4e2d\u56fd\u4e1c\u5357\u90e831,515\u4f8b\u5355\u80ce\u598a\u5a20\u7684\u591a\u4e2d\u5fc3\u8ffd\u8e2a\u7814\u7a76\u3002\u8d85\u58f0\u6ce2\u5987\u4ea7\u79d1\u3002 https:\/\/doi.\u2981 org\/10.1002\/uog.20416<\/li>\n<li>Wegrzyn P, Faro C, Falcon O, Peralta CF, Nicolaides KH (2005) \u901a\u8fc7\u6000\u5b5511-13+6\u5468\u7684\u4e09\u7ef4\u8d85\u58f0\u68c0\u67e5\u6d4b\u91cf\u7684\u80ce\u76d8\u4f53\u79ef:\u4e0e\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u76f8\u5173\u6027\u3002\u8d85\u58f0\u6ce2\u5987\u4ea7\u79d126(1):28-32\u3002 https:\/\/doi.org\/10.1002\/uog.1923<\/li>\n<li>\u7f8e\u56fd\u5987\u4ea7\u79d1\u5b66\u4f1a\u5b55\u4ea7\u5987\u533b\u5b66\u4f1a (2016) \u4e34\u5e8a\u516c\u62a5163\u53f7\u6458\u8981:\u80ce\u513f\u975e\u6574\u500d\u6027\u7b5b\u67e5\u3002\u5987\u4ea7\u79d1127(5):979-981\u3002 https:\/\/doi.org\/10.1097\/aog.0000000000001439<\/li>\n<li>Salomon LJ\u3001Alfirevic Z\u3001Audibert F\u3001Kagan KO\u3001Paladini D\u3001Yeo G\u3001Raine-Fenning N (2017) ISUOG\u306f\u3001cfDNA\u66f4\u65b0\u4e86\u5173\u4e8e\u975e\u6574\u500d\u6027\u6d4b\u8bd5\u5bf9\u7b5b\u67e5\u653f\u7b56\u548c\u4ea7\u524d\u8d85\u58f0\u6cbb\u7597\u5f71\u54cd\u7684\u5171\u8bc6\u58f0\u660e\u3002\u8d85\u58f0\u6ce2\u5987\u4ea7\u79d149(6):815-816\u3002 https:\/\/doi.org\/10.1002\/uog.17483<\/li>\n<li>Krishna I, Badell M, Loucks TL, Lindsay M, Samuel A (2016) \u5728\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5\u4e2d\u80ce\u513f\u5206\u6570\u4f4e\u7684\u6000\u5b55\u671f\u95f4,\u56f4\u4ea7\u671f\u7684\u4e0d\u826f\u7ed3\u679c\u66f4\u5e38\u89c1\u3002\u5b55\u671f36(3):210-215\u3002 https:\/\/doi.org\/10.1002\/pd.4779<\/li>\n<li>Vinante V, Keller B, Huhn EA, Huang D, Lapaire O, ManegoldBrauer G (2018) \u5168\u56fd\u5065\u5eb7\u4fdd\u9669\u8986\u76d6\u5bf9\u65e0\u521b\u4ea7\u524d\u68c0\u67e5\u7684\u5f71\u54cd Int J Gynaecol Obstet 141(2):189\u2013193. https:\/\/doi.org\/10.1002\/ijgo.12422<\/li>\n<li>Huang T, Dougan S, Walker M, Armour CM, Okun N (2018) \u5b89\u5927\u7565\u7701\u4f7f\u7528\u4ea7\u524d\u68c0\u67e5\u670d\u52a1\u6cbb\u7597\u80ce\u513f\u975e\u6574\u500d\u6027\u7684\u8d8b\u52bf:\u63cf\u8ff0\u6027\u7814\u7a76\u3002CMAJ 6 (4) :\u6253\u5f00E 436-E 444\u3002 https:\/\/doi.org\/10.9778\/cmajo.20180046<\/li>\n<li>Eiben B (2016) <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>-einekritische Betrachtung\u4e0b\u6ed1Furwenertu57:567<\/li>\n<\/ol>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%89%88%E7%A4%BE%E7%AC%94%E8%AE%B0\"><\/span><strong>\u51fa\u7248\u793e\u7b14\u8bb0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Springer Nature\u5bf9\u516c\u5f00\u7684\u5730\u56fe\u548c\u673a\u6784\u7684\u7ba1\u8f96\u6743\u58f0\u660e\u662f\u4e2d\u7acb\u7684\u3002<\/p>\n<\/div><\/div>\n<\/div><\/div>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"Heike Borth1 \u30fb Anna &#8230;\n <a 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