{"id":46380,"date":"2020-12-09T22:09:06","date_gmt":"2020-12-09T13:09:06","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/"},"modified":"2025-08-11T12:07:42","modified_gmt":"2025-08-11T03:07:42","slug":"cfdna-in-the-investigation-of-miscarriage","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans","title":{"rendered":"\u65e0\u7ec6\u80deDNA\u5728\u6d41\u4ea7\u8c03\u67e5\u4e2d\u7684\u5e94\u7528"},"content":{"rendered":"\n<h2 class=\"wp-block-heading hidden-heading\"><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p>Emily Colley <sup>1,2,3,*<\/sup>, Adam J. Devall <sup>1,2<\/sup>, Helen Williams <sup>1,4<\/sup> , Susan Hamilton <sup>3<\/sup>, Paul Smith <sup>1,2<\/sup>, Neil V. Morgan <sup>5<\/sup> , Siobhan Quenby <sup>6,7<\/sup>, Arri Coomarasamy <sup>1,2<\/sup> and Stephanie Allen <sup>3<\/sup> <\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Tommy\u2019s National Centre for Miscarriage Research, Birmingham Women\u2019s and Children\u2019s Hospital, Birmingham B15 2TG, UK; A.J.Devall@bham.ac.uk (A.J.D.); H.M.Williams.1@bham.ac.uk (H.W.); paul.smith@doctors.org.uk (P.S.); A.Coomarasamy@bham.ac.uk (A.C.)<\/li>\n\n\n\n<li>Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK<\/li>\n\n\n\n<li>West Midlands Regional Genetics Laboratory, Birmingham Women\u2019s and Children\u2019s Hospital, Birmingham B15 2TG, UK; susan.hamilton15@nhs.net (S.H.); stephanie.allen13@nhs.net (S.A.)<\/li>\n\n\n\n<li>Institute of Clinical Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston B15 2TT, UK<\/li>\n\n\n\n<li>Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK; N.V.Morgan@bham.ac.uk<\/li>\n\n\n\n<li>Division of Biomedical Sciences, Warwick Medical School, University of Warwick, Coventry CV4 7HL, UK; S.Quenby@warwick.ac.uk<\/li>\n\n\n\n<li>Tommy\u2019s National Centre for Miscarriage Research, University Hospitals Coventry &amp; Warwickshire NHS Trust, Coventry CV2 2DX, UK<\/li>\n<\/ol>\n\n\n\n<p>* Correspondence: emily.colley1@nhs.net<\/p>\n\n\n\n<p>Received: 1 October 2020; Accepted: 22 October 2020; Published: 26 October 2020<\/p>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_85 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#%E6%91%98%E8%A6%81\" >\u6458\u8981:<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#%E5%85%B3%E9%94%AE%E5%AD%97\" >\u5173\u952e\u5b57:<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#1_%E5%BA%8F%E7%AB%A0\" >1. \u5e8f\u7ae0<\/a><\/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\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#2_Materials_and_Methods\" >2. Materials and Methods<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#21_%E4%BC%A6%E7%90%86%E8%AE%A4%E5%8F%AF\" >2.1. \u4f26\u7406\u8ba4\u53ef<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#22_%E6%82%A3%E8%80%85%E6%A0%B7%E6%9C%AC\" >2.2. \u60a3\u8005\u6837\u672c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#23_%E6%A0%B7%E6%9C%AC%E7%9A%84%E5%A4%84%E7%90%86\" >2.3. \u6837\u672c\u7684\u5904\u7406<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#24_%E7%BB%86%E8%83%9E%E9%81%97%E4%BC%A0%E5%AD%A6%E5%88%86%E6%9E%90\" >2.4. &nbsp;\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#25_%E6%97%A0%E7%BB%86%E8%83%9EDNA%E6%A3%80%E9%AA%8C\" >2.5. \u65e0\u7ec6\u80deDNA\u68c0\u9a8c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#3_%E7%BB%93%E6%9E%9C\" >3. \u7ed3\u679c<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#4_%E8%AE%A8%E8%AE%BA\" >4. \u8ba8\u8bba<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#5_%E7%BB%93%E8%AE%BA\" >5. \u7ed3\u8bba<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?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-4'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#%E6%8F%90%E4%BE%9B%E8%B5%84%E9%87%91\" >\u63d0\u4f9b\u8d44\u91d1<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#%E6%84%9F%E8%B0%A2\" >\u611f\u8c22<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-4'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#%E5%88%A9%E7%9B%8A%E5%86%B2%E7%AA%81\" >\u5229\u76ca\u51b2\u7a81<\/a><\/li><\/ul><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E8%B5%84%E6%96%99\" >\u53c2\u8003\u8d44\u6599<\/a><ul class='ez-toc-list-level-4' ><li class='ez-toc-heading-level-4'><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\/cfdna-in-the-investigation-of-miscarriage\/?lang=zh-hans\/#%E5%87%BA%E7%89%88%E8%80%85%E6%B3%A8%E9%87%8A\" >\u51fa\u7248\u8005\u6ce8\u91ca<\/a><\/li><\/ul><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h4 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><\/h4>\n\n\n\n<p>\u5927\u7ea64\u6b21\u6000\u5b55\u4e2d\u67091\u6b21\u6d41\u4ea7\uff0c\u5176\u4e2d50%\u662f\u7531\u4e8e\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u8fde\u7eed3\u6b21\u6d41\u4ea7\u540e\uff0c\u63a8\u8350\u4f7f\u7528\u53d7\u5b55\u4ea7\u7269 (POC) \u7ec4\u7ec7\u8fdb\u884c\u9057\u4f20\u5b66\u68c0\u67e5\u3002\u65e0\u7ec6\u80deDNA (cfDNA) \u5df2\u7528\u4e8e\u4ea7\u524d\u7b5b\u67e5\uff0c\u4f46\u5728\u975e\u6000\u5b55\u4e2d\u5f88\u5c11\u8fdb\u884c\u3002\u6211\u4eec\u7814\u7a76\u4e86\u4ece\u6bcd\u4f53\u8840\u6db2\u4e2d\u4f7f\u7528cfDNA\u6765\u533a\u5206\u6d41\u4ea7\u4e2d\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u6536\u96c6\u5e76\u4fdd\u5b58\u4e86100\u4f8b1\u671f\u6d41\u4ea7\u5973\u6027\u7684\u8840\u68372\u4f8b\u3002\u5e73\u5747\u6000\u5b55\u5e74\u9f84\u4e3a7.1\u5468 (\u8303\u56f4:5~11\u5468) \u3002\u672c\u7814\u7a76\u672a\u5bf9\u6ca1\u6709POC\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u7684\u6837\u54c1\u8fdb\u884c\u5206\u6790\u3002<\/p>\n\n\n\n<p>\u63d0\u53d6CfDNA\u5e76\u4f7f\u7528\u4fee\u6539\u7684\u5e02\u552e\u5168\u57fa\u56e0\u7ec4\u65e0\u521b\u4ea7\u524d\u68c0\u67e5\u8fdb\u884c\u5206\u6790\u3002\u7ed3\u679c\u5e76\u672a\u63d0\u4f9b\u7ed9\u60a3\u8005\u3002\u572857\u4e2a\u6837\u54c1\u4e2d\uff0c\u901a\u8fc7POC\u5206\u6790\u83b7\u5f97\u7ec6\u80de\u9057\u4f20\u5b66\u7ed3\u679c\u3002\u67d3\u8272\u4f53\u5f02\u5e38\u5728POC\u5206\u6790\u768447% (27\/57) \u4e2d\u88ab\u9274\u5b9a\u51fa\u6765,\u5728cfDNA\u5206\u6790\u4e2d59% (16\/27) \u88ab\u51c6\u786e\u9274\u5b9a\u51fa\u6765\u3002\u603b\u8ba1\uff0c 75% (43\/57) \u7684\u7ed3\u679c\u88ab\u6b63\u786e\u8bc6\u522b\u3002\u5e73\u5747cfDNA\u80ce\u513f\u7ea7\u5206\u4e3a6% (2-19%) \u3002\u603b\u4e4b\uff0c\u5f53\u300c\u80ce\u513f\u7387\u300d \u591f\u9ad8\u65f6, cfDNA\u53ef\u7528\u4e8e\u68c0\u6d4b\u6d41\u4ea7\u4e2d\u7684\u67d3\u8272\u4f53\u5f02\u5e38,\u4f46\u9700\u8981\u66f4\u591a\u7684\u7814\u7a76\u6765\u786e\u5b9a\u5f71\u54cd\u6574\u4f53\u7ed3\u679c\u7684\u53d8\u91cf\u3002<\/p>\n\n\n\n<h4 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><\/h4>\n\n\n\n<p>\u6d41\u4ea7;\u65e0\u7ec6\u80deDNA;\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790;\u67d3\u8272\u4f53\u5f02\u5e38<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E5%BA%8F%E7%AB%A0\"><\/span>1. <strong>\u5e8f\u7ae0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u65e9\u671f\u6d41\u4ea7\u662f\u6000\u5b55\u671f\u95f4\u6700\u5e38\u89c1\u7684\u5e76\u53d1\u75c7 [1] ,\u88ab\u5b9a\u4e49\u4e3a\u6d41\u4ea7\u3002\u6bcf5\u4eba\u4e2d\u5c31\u67091\u4eba\u7684\u6000\u5b55\u4ee5\u81ea\u7136\u6d41\u4ea7\u544a\u7ec8 [2] ,\u4f46\u5176\u4e2d50%\u662f\u7531\u4e8e\u67d3\u8272\u4f53\u5f02\u5e38\u6240\u81f4 [3] \u3002\u786e\u5b9a\u67d3\u8272\u4f53\u5f02\u5e38\u662f\u5426\u662f\u5bfc\u81f4\u6d41\u4ea7\u7684\u6839\u672c\u539f\u56e0\u5f88\u91cd\u8981,\u56e0\u4e3a\u8fd9\u53ef\u80fd\u5f71\u54cd\u672a\u6765\u6000\u5b55\u7684\u9884\u540e\u3002\u5982\u679c\u662f\u6563\u53d1\u6027\u67d3\u8272\u4f53\u5f02\u5e38\u5bfc\u81f4\u7684\u6d41\u4ea7,\u90a3\u4e48\u672a\u6765\u6000\u5b55\u7684\u9884\u540e\u6bd4\u67d3\u8272\u4f53\u8865\u4f53\u6b63\u5e38\u7684\u597d\u3002\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u6d41\u4ea7\u7684\u539f\u56e0\u53ef\u80fd\u662f\u67d3\u8272\u4f53\u4ee5\u5916\u7684\u539f\u56e0\u3002\u5982\u679c\u67d3\u8272\u4f53\u91cd\u7ec4\u4e0d\u5e73\u8861,\u7236\u6bcd\u4e2d\u7684\u4e00\u65b9\u53ef\u80fd\u5177\u6709\u5e73\u8861\u7684\u67d3\u8272\u4f53\u91cd\u7ec4\u3002\u8fd9\u610f\u5473\u7740\u672a\u6765\u7684\u6000\u5b55\u53ef\u80fd\u53d7\u5230\u76f8\u540c\u6216\u5176\u4ed6\u4e0d\u5e73\u8861\u67d3\u8272\u4f53\u91cd\u6392\u7684\u5f71\u54cd\u3002\u5728\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0c\u91c7\u96c6\u8840\u6837\u8fdb\u884c\u7236\u6bcd\u7684\u6838\u578b\u68c0\u67e5\u4ee5\u8bc4\u4f30\u590d\u53d1\u7684\u98ce\u9669\u662f\u5f88\u91cd\u8981\u7684\u3002<\/p>\n\n\n\n<p>\u7b2c\u4e09\u6b21\u6d41\u4ea7\u540e\u7684\u6000\u5b55\u7ec4\u7ec7\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790,\u6216\u8005\u5982\u679c\u6ca1\u6709\u6000\u5b55\u7ec4\u7ec7, Royal College of Obstetricians and Gynaecologists (RCOG) Green-topGuideline No.17 [4] \u5efa\u8bae\u5bf9\u7236\u6bcd\u6837\u672c\u8fdb\u884c\u6838\u578b\u5206\u6790\u3002\u4ee5\u5f80\uff0c\u5728\u68c0\u6d4b\u6000\u5b55\u7ec4\u7ec7\u7684\u5f02\u5e38\u65f6,\u4f7f\u7528\u7ec6\u80de\u57f9\u517b\u548cG\u5e26\u67d3\u8272\u4f53\u5206\u6790\u3002\u7136\u800c\uff0c\u7531\u4e8e\u63a5\u6536\u7684\u7ec4\u7ec7\u7684\u8d28\u91cf\u8f83\u5dee,\u96be\u4ee5\u4ece\u8fd9\u4e9b\u7ec4\u7ec7\u4e2d\u57f9\u517b\u7ec6\u80de,\u5e76\u4e14\u68c0\u6d4b\u5fae\u7f3a\u5931\u7efc\u5408\u75c7\u548c\u91cd\u590d\u7efc\u5408\u75c7\u7684\u5206\u8fa8\u7387\u6709\u9650,\u56e0\u6b64\u5931\u8d25\u7387\u901a\u5e38\u5f88\u9ad8\u3002\u56e0\u6b64\uff0c\u5df2\u7ecf\u5728\u5b9e\u9a8c\u5ba4\u4e4b\u5916\u5b9e\u65bd\u4e86\u57fa\u4e8e\u5206\u5b50\u7684\u65b9\u6cd5\uff0c\u4f8b\u5982\u5b9a\u91cf\u8367\u5149PCR (QF-PCR) \u548c\u5fae\u9635\u5217\u3002<\/p>\n\n\n\n<p>\u76ee\u524d\uff0c\u7528\u4e8e\u6d41\u4ea7\u7684\u57fa\u56e0\u68c0\u67e5\u662f\u4f7f\u7528\u7531\u80ce\u76d8\u6210\u5206\u548c\u80ce\u513f\u6210\u5206\u7ec4\u6210\u7684\u6000\u5b55\u7ec4\u7ec7 (\u88ab\u79f0\u4f5c\u53d7\u5b55\u4ea7\u7269 (POC) ) \u8fdb\u884c\u7684\u3002\u8fd9\u4e9b\u7ec4\u7ec7\u5fc5\u987b\u4fdd\u6301\u65b0\u9c9c\u3001\u65e0\u6c61\u67d3\u548c\u65e0\u56fa\u5b9a\u72b6\u6001,\u624d\u80fd\u8bc6\u522b\u80ce\u513f\u7ec4\u7ec7\u5e76\u8fdb\u884cDNA\u63d0\u53d6\u548c\u7ec6\u80de\u57f9\u517b\u3002\u8fd9\u6d89\u53ca\u6bcd\u4f53\u7ec6\u80de\u6c61\u67d3 (MCC) \u7684\u98ce\u9669\uff0c\u5176\u53ef\u80fd\u5bfc\u81f4\u6837\u54c1\u7684\u8bef\u8ba4\u3002POC\u6837\u672c\u5305\u542b\u4e0e\u80ce\u513f\u7ec4\u7ec7\u76f8\u5173\u7684\u6bcd\u4f53\u7ec4\u7ec7\u3002\u5728DNA\u63d0\u53d6\u8fc7\u7a0b\u4e2d\uff0c\u6bcd\u4f53\u7ec6\u80de\u53ef\u80fd\u5728\u80ce\u513f\u7ec4\u7ec7\u7684\u9009\u62e9\u8fc7\u7a0b\u4e2d\u8f6c\u79fb\uff0c\u5bfc\u81f4\u6bcd\u4f53DNA,\u6216\u8005\u6bcd\u4f53\u7ec6\u80de\u5728\u7ec6\u80de\u57f9\u517b\u8fc7\u7a0b\u4e2d\u8fc7\u5ea6\u589e\u6b96\u3002\u6b64\u5916\uff0c\u5728\u8bb8\u591a\u60c5\u51b5\u4e0b\uff0c POC\u662f\u4e0d\u53ef\u7528\u7684\u6216\u4e0d\u4f1a\u88ab\u60a3\u8005\u9000\u56de\u3002<\/p>\n\n\n\n<p>\u65e0\u7ec6\u80deDNA (cfDNA) \u6700\u521d\u7531Dennis Lo [5] \u9274\u5b9a\u51fa\u6765,\u8bc1\u660e\u5b55\u5987\u8840\u6d46\u4e2d\u7684\u90e8\u5206cfDNA\u4ee3\u8868\u80ce\u513f\u7684\u6574\u4e2a\u57fa\u56e0\u7ec4\u3002\u5c3d\u7ba1cfDNA\u5df2\u88ab\u7528\u4e8e\u4ea7\u524d\u7b5b\u67e5\uff0c\u4f46\u8fc4\u4eca\u5bf9\u672a\u6000\u5b55\u5987\u5973\u7684\u7814\u7a76\u8fd8\u5f88\u5c11\u3002\u53ea\u6709Clark-Ganheart\u7b49\u4eba\u548cYaron\u7b49\u4eba\u7684\u4e24\u9879\u7814\u7a76 [6,7] \u8bc4\u4f30\u4e86cfDNA\u5728\u6d41\u4ea7\u60c5\u51b5\u4e0b\u7684\u4f7f\u7528\u60c5\u51b5\u3002<\/p>\n\n\n\n<p>\u524d\u77bb\u961f\u5217\u7814\u7a76Clark-Ganheart\u7b49 [6] \u5206\u6790\u4e8650\u4f8b\u975e\u53d7\u5b55\u7684cfDNA\u6837\u672c\u3002\u6839\u636e\u8d85\u58f0\u6ce2\u68c0\u67e5\uff0c\u6000\u5b55\u5e74\u9f84\u662f\u4ece6.1\u5468\u523038.4\u5468\u4e4b\u95f4\u7684\u8303\u56f4\u3002\u5728\u8fd9\u4e9b\u6837\u672c\u4e2d\uff0c\u5bf950\u4e2a\u6837\u672c\u4e2d\u768438\u4e2a\u6837\u672c\u8fdb\u884c\u4e86\u53ef\u62a5\u544a\u7684\u7ed3\u679c,\u5176\u4e2d8\u4e2a\u6837\u672c\u786e\u8ba4\u4e86\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u3002\u5728Yaron\u7b49\u4eba\u7684\u7814\u7a76 [7] \u4e2d\uff0c\u4e3a\u4e86\u5206\u679014\u5468\u4ee5\u4e0b\u7684\u6d41\u4ea7,\u68c0\u67e5\u4e86cfDNA\u3002\u5728\u603b\u517186\u4f8b\u6000\u5b55\u4e2d,\u83b7\u5f97\u4e86\u5177\u6709\u7b49\u540cPOC\u7684cfDNA\u7ed3\u679c (\u6765\u81eaCVS\u53d6\u6837) \u3002\u80ce\u513f\u90e8\u5206\u7684\u4e2d\u95f4\u503c\u4e3a5%\u3002\u572886\u4e2a\u6837\u672c\u4e2d\uff0c\u670955\u4e2a\u6837\u672c (64%) \u5b58\u5728\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u5176\u4e2d30\u4e2a\u6837\u672c (55%) \u4f7f\u7528\u6807\u51c6\u7684\u65e0\u521b\u4ea7\u524d\u68c0\u67e5 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>) \u5bf9\u6570\u4f3c\u7136\u6bd4 (LLR) \u622a\u65ad\u6cd5\u8fdb\u884c\u4e86\u68c0\u6d4b\u3002\u4e3a\u4e86\u63d0\u9ad8\u7075\u654f\u5ea6\uff0c\u4f7f\u7528\u4e8650\u4e2a\u6837\u672c\u7684\u300c\u8bad\u7ec3\u96c6\u300d \u5f00\u53d1\u4e86\u7279\u5b9a\u4e8e\u6d41\u4ea7\u7684\u9608\u503c\u3002\u8fd9\u5c06\u68c0\u6d4b\u7387\u63d0\u9ad8\u523082%\u3002<\/p>\n\n\n\n<p>\u5728\u901a\u8fc7\u7b80\u5355\u7684\u8840\u6db2\u68c0\u67e5\u6765\u8bca\u65ad\u6d41\u4ea7\u65f6, CfDNA\u5bf9\u4e8e\u786e\u5b9a\u6d41\u4ea7\u7684\u67d3\u8272\u4f53\u539f\u56e0\u975e\u5e38\u6709\u7528\u3002\u672c\u7814\u7a76\u63a2\u8ba8\u4e86\u5982\u4f55\u5229\u7528cfDNA\u68c0\u6d4b\u6d41\u4ea7\u4e2d\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u5e76\u5c06\u5176\u7ed3\u679c\u4e0ePOC\u68c0\u67e5\u7ed3\u679c\u8fdb\u884c\u6bd4\u8f83\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_Materials_and_Methods\"><\/span>2. Materials and Methods<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"21_%E4%BC%A6%E7%90%86%E8%AE%A4%E5%8F%AF\"><\/span>2.1. <strong>\u4f26\u7406\u8ba4\u53ef<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u8be5\u7814\u7a76\u7531Tommy&#8217;sNational Centre for Miscarriage Research\u8fdb\u884c\uff0c\u5e76\u83b7\u5f97\u4e86IRAS\u9879\u76eeID 215646\u7684\u7814\u7a76\u9053\u5fb7\u8ba4\u53ef(REC\u53c2\u800316\/WM\/0423, 23\/11\/2016, West Midlands-South Birmingham\u7814\u7a76\u9053\u5fb7\u59d4\u5458\u4f1a)\u548c\u5065\u5eb7\u7814\u7a76\u673a\u6784 (HRA) \u7684\u6279\u51c6\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"22_%E6%82%A3%E8%80%85%E6%A0%B7%E6%9C%AC\"><\/span>2.2. <strong>\u60a3\u8005\u6837\u672c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u6709\u8fc7\u65e9\u671f\u6d41\u4ea7\u7ecf\u5386\u7684\u60a3\u8005\uff0c\u5728\u4f2f\u660e\u7ff0\u5987\u5973\u548c\u513f\u7ae5\u533b\u9662\u4e3e\u529e\u7684Tommy&#8217;sNational Centre for Miscarriage Research\u4e2d\u53d6\u5f97\u4e86\u60a3\u8005\u7684\u77e5\u60c5\u548c\u540c\u610f\u3002<\/p>\n\n\n\n<p>2017\u5e742\u6708\u81f32019\u5e747\u6708\uff0c NHS\u4fe1\u6258\u548cUniversity Hospital Coventry&amp;Warwickshire NHS\u4fe1\u6258\u660e\u786e\u540c\u610f\u4f7f\u7528\u60a3\u8005\u7684POC\u548c\u9057\u4f20\u7269\u8d28\u3002\u6536\u96c6\u6837\u672c\u4f5c\u4e3a\u533b\u5b66\u7814\u7a76\u7684\u8d21\u732e,\u5e76\u6839\u636e\u4eba\u7c7b\u7ec4\u7ec7\u6cd5 (HTA) \u5904\u7406\u7ec4\u7ec7\u3002\u63d0\u4f9b\u8005\u4fdd\u7559\u64a4\u56de\u540c\u610f\u4ee5\u4f9b\u8fdb\u4e00\u6b65\u4f7f\u7528\u7684\u80fd\u529b\uff0c\u4f46\u4e0d\u4fdd\u7559\u53d6\u5f97\u6837\u672c\u540e\u7684\u6743\u5229\u3002<\/p>\n\n\n\n<p>\u8d44\u683c\u6807\u51c6\u5305\u62ec16\u5c81\u4ee5\u4e0a\u7684\u6bcd\u4eb2\u7684\u5e74\u9f84\uff0c\u4ee5\u53ca\u5728\u8bca\u65ad\u6d41\u4ea7\u65f6\u901a\u8fc7\u8d85\u58f0\u6ce2\u68c0\u67e5\u786e\u8ba4\u7684\u6000\u5b55\u65f6\u95f4\u5c0f\u4e8e12\u5468\u7684\u6000\u5b55\u7ec4\u7ec7\u4fdd\u7559\u5728\u539f\u6765\u7684\u4f4d\u7f6e\u3002\u5f53\u901a\u8fc7\u76f8\u5e94\u7684POC\u5206\u6790\u83b7\u5f97\u7ec6\u80de\u9057\u4f20\u5b66\u7ed3\u679c\u65f6\uff0c\u6837\u672c\u88ab\u5305\u62ec\u5728\u5206\u6790\u4e2d,\u4f46\u6392\u9664\u4e867\u4e2a\u5df2\u77e5\u7684\u4e09\u500d\u4f53\u75c5\u4f8b\u3002<\/p>\n\n\n\n<p>\u91c7\u96c6\u8840\u6db2\u6837\u672c\u7528\u4e8ecfDNA\u5206\u6790\u548c\u03b2hCG\u7ea7\u522b\u7684\u8bc4\u4f30\u3002\u7528\u65e0\u7ec6\u80deDNA BCT (STRECK) \u7ba1\u6536\u96c6\u6700\u591a10 mL\u6bcd\u4f53\u8840\u6db2\u7528\u4e8ecfDNA,\u5e76\u5728\u53ef\u80fd\u7684\u60c5\u51b5\u4e0b\u7528\u8d85\u58f0\u6ce2\u6d4b\u91cf\u51a0-\u81c0\u957f\u5ea6 (CRL) \u4ee5\u8bc4\u4f30\u80da\u80ce\u6000\u5b55\u3002\u901a\u8fc7POC\u6d4b\u8bd5\u83b7\u5f97\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u901a\u8fc7\u6807\u51c6\u60a3\u8005\u62a4\u7406\u4f20\u8fbe\u7ed9\u60a3\u8005\u3002CfDNA\u7ed3\u679c\u672a\u4e0e\u60a3\u8005\u5171\u4eab\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"23_%E6%A0%B7%E6%9C%AC%E7%9A%84%E5%A4%84%E7%90%86\"><\/span>2.3. <strong>\u6837\u672c\u7684\u5904\u7406<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u7528\u53cc\u91cd\u79bb\u5fc3\u6cd5\u4ece\u5168\u90e8\u8840\u6db2\u4e2d\u5206\u79bb\u51fa\u8840\u6d46,\u75281mL\u7684\u7b49\u4efd\u8f6c\u79fb\u5230DNA LoBind\u7ba1 (Ependorff) \u4e2d\u3002\u8fd9\u4e9b\u7b49\u5206\u8bd5\u6837\u4fdd\u5b58\u5728-80\u00b0C\u76f4\u81f3\u4f7f\u7528\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"24_%E7%BB%86%E8%83%9E%E9%81%97%E4%BC%A0%E5%AD%A6%E5%88%86%E6%9E%90\"><\/span>2.4. <strong>&nbsp;\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u5bf9\u4e8e3\u6b21\u53ca\u4ee5\u540e\u8fde\u7eed\u6d41\u4ea7\u540e\u7684POC,\u6309\u7167RCOGGreen-top\u6307\u5357No.17 [4] \u62bd\u53d6\u53d7\u5b55\u4ea7\u7269 (POC) \u4f5c\u4e3a\u5e38\u89c4\u4e34\u5e8a\u6807\u672c,\u5e76\u8fdb\u884c\u9776\u5411QF-PCR\u548c\u67d3\u8272\u4f53\u5fae\u9635\u5217\u5206\u6790 (CMA) \u3002<\/p>\n\n\n\n<p>\u9996\u5148\u5bf9POC\u7684DNA\u8fdb\u884cQF-PCR\u67d3\u8272\u4f53\u4e09\u4f53\u7b5b\u9009,\u67d3\u8272\u4f53\u4e09\u4f5313\u300118\u621621,\u4e09\u500d\u4f53,\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u3002\u5728QF-PCR\u4e2d\u62a5\u544a\u6709\u5f02\u5e38\u3002\u6b63\u5e38\u60c5\u51b5\u4e0b\uff0c\u91c7\u7528OGT CytoSure 8\u00d760 k Constitutional v3\u8bbe\u8ba1\uff0c\u5916\u663e\u5b50\/\u57fa\u56e0\u6c34\u5e73\u5206\u8fa8\u7387\u4e3a~500 DDD\/ClinGen\u7b56\u5b9a\u7684\u53d1\u80b2\u57fa\u56e0\u548c\u7efc\u5408\u75c7\u533a,\u5206\u5c42\u4e3b\u5e72\u5206\u8fa8\u7387\u4e3a~120~500 kb, CytoSure v4.9\u548cCBS\u7b97\u6cd5\u6784\u5efaGRCH37\u8fdb\u884c\u5206\u6790,\u8fdb\u884cCMA\u68c0\u67e5\u3002\u5728\u5fae\u9635\u5217\u5206\u6790\u4e2d\uff0c\u68c0\u6d4b\u5230\u8d85\u8fc71Mb\u7684\u590d\u5236\u6570\u7684\u4e0d\u5e73\u8861,\u5e76\u4e14\u5728\u67d0\u4e9b\u60c5\u51b5\u4e0b\u83b7\u5f97\u66f4\u9ad8\u7684\u5206\u8fa8\u7387\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"25_%E6%97%A0%E7%BB%86%E8%83%9EDNA%E6%A3%80%E9%AA%8C\"><\/span>2.5. <strong>\u65e0\u7ec6\u80deDNA\u68c0\u9a8c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u5c06\u6765\u81ea\u540c\u610f\u7531\u5916\u90e8\u6d4b\u8bd5\u673a\u6784\u8fdb\u884c\u6d4b\u8bd5\u7684\u60a3\u8005\u7684\u8840\u6d46 (1 mL) \u63d0\u4ea4\u7ed9\u5251\u6865\u7684Illumina\u5b9e\u9a8c\u5ba4\uff0c\u5e76\u4f7f\u7528\u5982\u524d\u6240\u8ff0\u4fee\u6539\u7684Illumina VeriSeqTM NIPT\u89e3\u51b3\u65b9\u6848v 2\u5de5\u4f5c\u6d41\u7a0b\u4ee524\u4e2a\u6837\u54c1\u6279\u6b21\u5904\u7406 [8, 9] \u4f7f\u7528\u6700\u65b0\u7684\u5206\u6790\u5e73\u53f0 [10] \u8fdb\u884c\u4e86\u4e00\u4e9b\u5c0f\u7684\u4fee\u6539\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E7%BB%93%E6%9E%9C\"><\/span>3. <strong>\u7ed3\u679c<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u5728\u786e\u8ba4\u6d41\u4ea7\u540e\uff0c\u5171\u6536\u96c6\u4e86102\u4e2acfDNA\u6837\u672c\u3002\u901a\u8fc7\u5728NextSeq 500\u4e0a\u8fdb\u884cVeriSeqTM NIPTv2Solution\u5206\u6790\u6765\u5206\u6790\u6240\u6709102\u4e2a\u6837\u672c\u3002\u6211\u4eec\u6536\u5230\u4e8685\u4e2a\u76f8\u5bf9\u5e94\u7684POC\u6837\u672c\u3002\u5171\u670964\u4f8b\u6000\u5b55\u7684POC\u5206\u6790\u83b7\u5f97\u4e86\u76f8\u5e94\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u7ed3\u679c,21\u4f8bPOC\u6837\u672c\u4e0d\u9002\u5408\u5206\u6790,17\u4f8bcfDNA\u6837\u672c\u672a\u6536\u5230\u76f8\u5bf9\u5e94\u7684POC\u6837\u672c\u3002\u4ececfDNA\u5206\u6790\u4e2d\u6392\u9664\u4e8617\u4e2a\u672a\u63a5\u53d7\u7684POC\u6837\u672c\u548c21\u4e2a\u4e0d\u9002\u5408\u5206\u6790\u7684POC\u6837\u672c\uff0c\u5e76\u6392\u9664\u4e86\u5df2\u77e5\u7684\u4e09\u500d\u4f53\u6000\u5b55 (\u56fe1) \u3002<\/p>\n\n\n\n<p>\u901a\u8fc7POC\u5206\u6790\u572827\/57\u4e2a\u75c5\u4f8b (47%) \u4e2d\u8bc1\u5b9e\u4e86\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u60a3\u8005\u57fa\u672c\u7279\u5f81\u603b\u7ed3\u5728\u88681\u4e2d\u3002\u8fdb\u884c\u76f8\u5e94\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u679057\u4f8b\uff0c\u5e73\u5747\u5e74\u9f8434\u5c81 (20~43\u5c81) \uff0c\u4e34\u5e8a\u6000\u5b557.1\u5468 (5~11\u5468) ,\u80ce\u513f\u73876% (2~19%) \u3002\u4f7f\u7528VeriSeqTM,\u6240\u6709\u542b\u670916\/27 (59%) \u9057\u4f20\u5f02\u5e38\u548c27\/30 (90%) \u9057\u4f20\u6b63\u5e38\u7684\u6837\u672c\u768470% (40\/57) \u90fd\u88ab\u6210\u529f\u5730\u9274\u5b9a\u3002<\/p>\n\n\n\n<p>\u8fd9\u76f8\u5f53\u4e8e\u7075\u654f\u5ea659% (16\/27) \uff0c\u7279\u5f02\u602790% (27\/30) \uff0c\u51c6\u786e\u5ea675% (43\/57) \uff0c\u5c3d\u7ba1\u6837\u672c\u961f\u5217\u76f8\u5bf9\u8f83\u5c0f\u3002<\/p>\n\n\n\n<figure class=\"fig_svg1\">\n<svg xmlns=\"http:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 363.04 759.06\">\n\t<defs>\n\t\t<style>\t\t\n.fig_svg1 svg .a{fill:#bfefc9;}\n.fig_svg1 svg .a,.fig_svg1 svg .b,.fig_svg1 svg .f{stroke:#231815;stroke-miterlimit:10;}\n.fig_svg1 svg .a,.fig_svg1 svg .f{stroke-width:0.5px;}\n.fig_svg1 svg .b{fill:none;stroke-width:1.5px;}\n.fig_svg1 svg .c{fill:#231815;}\n.fig_svg1 svg .d{font-size:12px;letter-spacing:0.02em;}\n.fig_svg1 svg .e{letter-spacing:0.27em;}\n.fig_svg1 svg .f{fill:#ffe79c;}\n.fig_svg1 svg .g{letter-spacing:0.27em;}\n.fig_svg1 svg .h{letter-spacing:0.02em;}\n.fig_svg1 svg .i{letter-spacing:-0.48em;}\n.fig_svg1 svg .j{letter-spacing:-0.23em;}\n.fig_svg1 svg .k{letter-spacing:-0.48em;}\n.fig_svg1 svg .l{letter-spacing:0.09em;}\n.fig_svg1 svg .m{letter-spacing:0.11em;}\n.fig_svg1 svg .n{letter-spacing:0.09em;}\n.fig_svg1 svg .o{letter-spacing:0.02em;}\n.fig_svg1 svg .p{letter-spacing:0.27em;}\n<\/style>\n\t<\/defs>\n\t<rect class=\"a\" x=\"173.84\" y=\"509.36\" width=\"188.95\" height=\"62.36\" rx=\"8.86\"><\/rect>\n\t<line class=\"b\" x1=\"85.29\" y1=\"141.62\" x2=\"85.29\" y2=\"231.87\"><\/line>\n\t<polygon class=\"c\" points=\"79.73 227.66 85.29 230.02 90.84 227.66 85.29 240.83 79.73 227.66\"><\/polygon>\n\t<line class=\"b\" x1=\"85.29\" y1=\"184.62\" x2=\"161.37\" y2=\"184.62\"><\/line>\n\t<polygon class=\"c\" points=\"157.16 190.17 159.52 184.62 157.16 179.06 170.33 184.62 157.16 190.17\"><\/polygon>\n\t<text class=\"d\" transform=\"translate(189.57 536.36)\">\u6392\u9664:\u4e09\u500d\u4f53\u7ec6\u80de\n\t\t<tspan x=\"30\" y=\"16\" xml:space=\"preserve\">\u9057\u4f20\u5b66\u7ed3\u679c (7)<\/tspan>\n\t<\/text>\n\t<rect class=\"f\" x=\"0.25\" y=\"244.25\" width=\"170.08\" height=\"85.04\" rx=\"14.17\"><\/rect>\n\t<text class=\"d\" transform=\"translate(12.13 283.03)\">\u7528\u4e8e\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u7684\n\t\t<tspan x=\"19.57\" y=\"15\">85\u4e2aPOC\u6837\u672c<\/tspan>\n\t<\/text>\n\t<line class=\"b\" x1=\"85.29\" y1=\"329.62\" x2=\"85.29\" y2=\"419.87\"><\/line>\n\t<polygon class=\"c\" points=\"79.73 415.66 85.29 418.02 90.84 415.66 85.29 428.83 79.73 415.66\"><\/polygon>\n\t<line class=\"b\" x1=\"85.29\" y1=\"372.62\" x2=\"161.37\" y2=\"372.62\"><\/line>\n\t<polygon class=\"c\" points=\"157.16 378.17 159.52 372.62 157.16 367.06 170.33 372.62 157.16 378.17\"><\/polygon>\n\t<line class=\"b\" x1=\"85.29\" y1=\"487.62\" x2=\"85.29\" y2=\"577.87\"><\/line>\n\t<polygon class=\"c\" points=\"79.73 573.66 85.29 576.02 90.84 573.66 85.29 586.83 79.73 573.66\"><\/polygon>\n\t<line class=\"b\" x1=\"85.29\" y1=\"530.62\" x2=\"161.37\" y2=\"530.62\"><\/line>\n\t<polygon class=\"c\" points=\"157.16 536.17 159.52 530.62 157.16 525.06 170.33 530.62 157.16 536.17\"><\/polygon>\n\t<rect class=\"f\" x=\"0.25\" y=\"431.42\" width=\"170.08\" height=\"56.69\" rx=\"14.17\"><\/rect>\n\t<text class=\"d\" transform=\"translate(16 464.03)\">64 \u76f8\u5e94\u7684\u57fa\u56e0\u7ed3\u679c<\/text>\n\t<rect class=\"f\" x=\"0.25\" y=\"588.73\" width=\"170.08\" height=\"170.08\" rx=\"14.17\"><\/rect>\n\t<text class=\"d\" transform=\"translate(12.88 634.03)\">57 \u76f8\u5e94\u7684\u9057\u4f20\u5b66\u7ed3\u679c\n\t\t<tspan x=\"-0.75\" y=\"15\">\u672a\u68c0\u6d4b\u5230<\/tspan>\n\t\t<tspan x=\"23.73\" y=\"30\">\u663e\u7740\u7684\u590d\u5236\u6570\u4e0d\u5e73\u8861<\/tspan>\n\t\t<tspan x=\"39.86\" y=\"45\">30\u4e2a\u6837\u672c<\/tspan>\n\t\t<tspan x=\"5.37\" y=\"65\">\u68c0\u6d4b\u5230\u57fa\u56e0\u5f02\u5e38\u7684<\/tspan>\n\t\t<tspan x=\"39.86\" y=\"80\">27\u4e2a\u6837\u672c<\/tspan>\n\t\t<tspan x=\"17.41\" y=\"95\">(\u5305\u62ec3\u4e2a45X) <\/tspan>\n\t<\/text>\n\t<rect class=\"f\" x=\"0.25\" y=\"0.25\" width=\"170.08\" height=\"141.73\" rx=\"14.17\"><\/rect>\n\t<text class=\"d\" transform=\"translate(54.97 39.03)\">\u4f7f\u7528\u4fee\u6b63\u7684\n\t\t<tspan x=\"-16.25\" y=\"15\">Illumina VeriSeq <\/tspan>\n\t\t<tspan x=\"-34.7\" y=\"30\"><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> \u89e3\u51b3\u65b9\u6848 v2<\/tspan>\n\t\t<tspan x=\"-36.72\" y=\"45\">\u5de5\u4f5c\u6d41\u7a0b<\/tspan>\n\t\t<tspan x=\"-18.36\" y=\"60\">\u5bf9102\u4e2a\u6837\u672c<\/tspan>\n\t\t<tspan x=\"-5.66\" y=\"75\">\u8fdb\u884c\u4e86\u6392\u5e8f<\/tspan>\n\t<\/text>\n\t<rect class=\"a\" x=\"175.05\" y=\"163.02\" width=\"186.74\" height=\"56.69\" rx=\"7.6\"><\/rect>\n\t<text class=\"d\" transform=\"translate(187.55 188.04)\">\u6392\u9664:\u672a\u63a5\u6536\u5230\u76f8\u5e94\u7684 \n\t\t<tspan x=\"30\" y=\"16\" xml:space=\"preserve\">POC\u6837\u672c(17)<\/tspan>\n\t<\/text>\n\t<rect class=\"a\" x=\"174.12\" y=\"351.02\" width=\"188.67\" height=\"59.53\" rx=\"8.65\"><\/rect>\n\t<text class=\"d\" transform=\"translate(188.57 376.36)\">\u6392\u9664:\u6ca1\u6709\u80ce\u513f\u7269\u8d28\u7684\n\t\t<tspan x=\"30\" y=\"16\" xml:space=\"preserve\">\u6837\u672c\/MCC (21)<\/tspan>\n\t<\/text>\n<\/svg>\n<figcaption><strong>\u56fe1.<\/strong> \u8bf4\u660ecfDNA\u6837\u672c\u7684\u6392\u9664\/\u6392\u9664\u7684\u6d41\u7a0b\u56fe\u3002MCC:\u6bcd\u4f53\u7ec6\u80de\u6c61\u67d3;<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>:\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5;POC:\u53d7\u5b55\u4ea7\u7269\u3002<\/figcaption>\n<\/figure>\n\n\n\n<table>\n<caption><strong>\u88681.<\/strong>cfDNA\u6837\u672c\u7684\u7279\u5f81 (\u4e09\u500d\u4f53\u6000\u5b55\u9664\u5916) ,\u83b7\u5f97\u9002\u5408\u5206\u6790\u7684\u76f8\u5e94\u53d7\u5b55\u4ea7\u7269 (POC) \u7684\u7ed3<\/caption>\n<colgroup>\n<col style=\"width:25%;\">\n<col style=\"width:25%;\">\n<col style=\"width:25%;\">\n<col style=\"width:25%;\">\n<\/colgroup>\n<thead>\n<tr>\n<th><\/th><th>\u603b\u8ba1 (n = 57)<\/th><th>\u67d3\u8272\u4f53\u6b63\u5e38<br>(n = 30)<\/th><th>\u67d3\u8272\u4f53\u5f02\u5e38<br>(n = 27)<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<td>\u6bcd\u4eb2\u5e74\u9f84 (\u5e74)<br>(\u5e73\u5747\u503c\u548c\u8303\u56f4)<\/td>\n<td>34<br>(20-43)<\/td>\n<td>31<br>(20-41)<\/td>\n<td>37<br>(24-43)<\/td>\n<\/tr>\n<tr>\n<td>\u8fc7\u53bb\u7684\u635f\u5931<br>(\u5e73\u5747\u503c\u548c\u8303\u56f4)<\/td>\n<td>3.8<br>(0-14)<\/td>\n<td>4.1<br>(0-14)<\/td>\n<td>3.3<br>(0-6)<\/td>\n<\/tr>\n<tr>\n<td>\u6000\u5b55\u5e74\u9f84 (\u5468)<br>(\u5e73\u5747\u503c\u548c\u8303\u56f4)<\/td>\n<td>7.1<br>(5-11)<\/td>\n<td>7.4<br>(5-11)<\/td>\n<td>6.4<br>(5-9.3)<\/td>\n<\/tr>\n<tr>\n<td>\u03b2hCG (mIU\/mL)<br>(\u5e73\u5747\u503c\u548c\u8303\u56f4)<\/td>\n<td>38,356<br>(69-263,766)<\/td>\n<td>50,632<br>(69-263,766)<\/td>\n<td>21,538<br>(491-100,638)<\/td>\n<\/tr>\n<tr>\n<td>\u80ce\u513f\u767e\u5206\u6bd4(%)<br>(\u5e73\u5747\u503c\u548c\u8303\u56f4)<\/td>\n<td>6<br>(2-19)<\/td>\n<td>7<br>(2-19)<\/td>\n<td>5<br>(3-12)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\n\n\n<p>CfDNA\u5206\u6790\u4e2d\uff0c\u51c6\u786e\u9274\u5b9a\u4e8643\/57\u4f8b (75%) ,\u5176\u4e2d\u5f02\u5e3816\u4f8b,\u6b63\u5e3827\u4f8b\u3002\u88682\u6bd4\u8f83\u4e86\u901a\u8fc7POC\u68c0\u6d4b\u51fa\u5f02\u5e38\u7684\u75c5\u4f8b\u7684POC\u7ed3\u679c\u548ccfDNA\u68c0\u67e5\u7ed3\u679c\u3002\u7528POC\u68c0\u6d4b\u5230\u7684\u5f02\u5e38\u4e3a:\u666e\u901a\u67d3\u8272\u4f53\u4e09\u4f53 (3) \u3001\u4e0e\u5355\u4f53X (2) \u300145\u3001X\u590d\u5408\u7684\u666e\u901a\u67d3\u8272\u4f53\u4e09\u4f53 (1) \u3001\u5355\u4f5321 (1) \u3001\u5b8c\u5168\u77ee\u578b\u67d3\u8272\u4f53\u4e09\u4f53 (14) \u3001\u9576\u5d4c\u578b\u77ee\u578b\u67d3\u8272\u4f53 (2) \u3001\u590d\u5236\u6570\u53d8\u5f02 (4) \u3002\u5728\u7f55\u89c1\u7684\u67d3\u8272\u4f53\u4e09\u4f53\u4e2d\uff0c\u67d3\u8272\u4f53\u4e09\u4f5322\u548c\u67d3\u8272\u4f53\u4e09\u4f5315\u6700\u5e38\u89c1\u3002\u80ce\u513f\u5206\u6570\u4e3a3~12% (\u5e73\u57475%) \u3002\u572840\/57\u4e2a\u6837\u672c\u4e2d, CfDNA\u7684\u7ed3\u679c\u4e0ePOC\u7684\u7ed3\u679c\u5b8c\u5168\u4e00\u81f4\u3002CfDNA\u7ed3\u679c27\/30\u4f8b\u4ea7\u751f\u6b63\u5e38\u7ed3\u679c,\u5df2\u77e5\u6b63\u5e38\u75c5\u4f8b\u76843\/30\u4f8b\u4ea7\u751f\u4e0d\u540c\u7ed3\u679c\u3002\u5728cfDNA\u6d4b\u8bd5\u4e2d2\u4e2a\u9576\u5d4c\u6837\u672c (\u6837\u672cID 51\u548c586) \u672a\u88ab\u6b63\u786e\u8bc6\u522b,\u4f46\u5728\u8fd9\u4e9b\u6837\u672c\u4e2d\u68c0\u6d4b\u5230\u5176\u4ed6\u4e0d\u5e73\u8861\u3002\u5728\u6837\u672cID 228\u4e2d, POC\u83b7\u5f97\u4e86\u5355\u4f5321\u7684\u7ed3\u679c,\u4f46\u5728cfDNA\u6d4b\u8bd5\u4e2d,\u5728\u5176\u4ed6\u51e0\u6761\u67d3\u8272\u4f53\u4e0a\u9274\u5b9a\u4e86CNV\u3002<\/p>\n\n\n\n<p>4\u4e2a\u6837\u672c\u6d41\u4ea7, POC\u5206\u6790\u663e\u793a\u67d3\u8272\u4f53\u4ee5\u4e0b\u7f3a\u5931\u548c\u91cd\u590d (\u6837\u672cID 133\u3001202\u3001303\u3001319) \u3002\u901a\u8fc7cfDNA\u5206\u6790\u68c0\u6d4b\u52307q 22.1q 36.3\u768456 Mb\u91cd\u590d\u548c19q 13.12q 13.43\u768421Mb\u672b\u7aef\u91cd\u590d\u3002\u5728cfDNA\u5206\u6790\u4e2d\u672a\u68c0\u6d4b\u523013q 13.3q 34\u4e2d70Mb\u7684\u7f3a\u5931\uff0c 7q 36.2q 36.3\u4e2d6 Mb\u7684\u672b\u7aef\u7f3a\u5931\uff0c 4q 34.3q 35.2\u4e2d9Mb\u7684\u672b\u7aef\u91cd\u53e0\uff0c 5q 33.1q 35.3\u4e2d30Mb\u7684\u672b\u7aef\u7f3a\u5931\u3002<\/p>\n\n\n\n<p>\u4e3a\u4e86\u89c2\u5bdfcfDNA\u5206\u6790\u548cPOC\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u4e4b\u95f4\u7684\u7ed3\u679c\u8c03\u7528\u662f\u5426\u53ef\u4ee5\u6539\u5584\uff0c\u4f7f\u7528\u4e0d\u540c\u7684\u6000\u5b55,\u03b2hCG\u503c\u548c\u80ce\u513f\u7ea7\u5206\u622a\u6b62\u5206\u4e3a\u4e09\u7c7b (\u88683) \u3002\u6000\u5b55\u671f\u95f4\u5206\u4e3a4\u7ec4,\u672a\u6ee17\u5468,7~8\u5468,8\u5468\u4ee5\u4e0a\u548c\u672a\u77e5\u6000\u5b55\u3002\u5728\u8fd9\u4e9b\u7ec4\u4e2d\uff0c\u901a\u8fc7cfDNA\u6d4b\u8bd5\u51c6\u786e\u9274\u5b9a\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u968f\u7740\u6000\u5b55\u65f6\u95f4\u7684\u5ef6\u957f\u800c\u589e\u52a0\u3002\u03b2hCG\u503c\u5206\u4e3a\u5c0f\u4e8e8000\u30018000~35000\u300135000 mIU\/mL\u4ee5\u4e0a3\u7ec4\u3002\u5f53\u8fd9\u4e9b\u7ec4\u7684\u03b2hCG\u6c34\u5e73\u589e\u52a0\u65f6\uff0c\u901a\u8fc7cfDNA\u6d4b\u8bd5\u6b63\u786e\u8bc6\u522b\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u4e5f\u589e\u52a0\u3002\u80ce\u513f\u5206\u7ea7\u7ec4\u5206\u4e3a3\u7ec4\u3002\u5c06\u5176\u5206\u4e3a\u5c0f\u4e8e5\u30015~8\u548c9\u4ee5\u4e0a3\u7ec4\u3002\u5728\u8fd9\u91cc,\u968f\u7740\u80ce\u513f\u5206\u7ea7\u7ec4\u7684\u589e\u52a0, cfDNA\u68c0\u6d4b\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u6b63\u786e\u7387\u4e5f\u968f\u4e4b\u589e\u52a0\u3002<\/p>\n\n\n\n<div class=\"table-sp-scroll\">\n<table>\n<caption><strong>\u88682.<\/strong> \u4f7f\u7528\u4fee\u6539\u540e\u7684Illumina VeriSeqTM\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>) \u89e3\u51b3\u65b9\u6848v2\u5de5\u4f5c\u6d41\u7a0b\u5206\u6790cfDNA\u5e76\u6bd4\u8f83POC\u9633\u6027\u7ed3\u679c\u7684\u5fae\u9635\u5217\u5206\u6790\u7684\u9057\u4f20\u7ed3\u679c<\/caption>\n<thead>\n<tr>\n<th>\u6837\u672c<br>ID<\/th><th>\u6000\u5b55(\u9031)<\/th><th>CRL(mm)<\/th><th>BhCG<br>(mIU\/mL)<\/th><th>\u6bcd\u4eb2\u5e74\u9f84<br>(\u5e74)<\/th><th>\u4e0a\u4e00\u6b21<br>\u6d41\u4ea7\u4eba\u6570<\/th><th>POC\u7ed3\u679c<\/th><th>POC<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a><\/th><th>CfDNA\u7ed3\u679c<\/th><th>CfDNA<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a><\/th><th>\u80ce\u513f\u7387<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n<th>4<\/th><td>7 + 2<\/td><td>2.8<\/td><td>19,247<\/td><td>40<\/td><td>2<\/td><td>22\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u5973\u6027<\/td><td>\u65e0\u5f02\u5e38<\/td><td>\u5973\u6027<\/td><td>4%<\/td>\n<\/tr>\n<tr>\n<th>51<\/th><td>5 + 4<\/td><td>2<\/td><td>12,725<\/td><td>34<\/td><td>6<\/td><td>4\u5d4c\u53f6\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u7537\u6027<\/td><td>\u68c0\u6d4b\u5230:\u7f3a\u5931  (10) (p15.3q21.1)<\/td><td>\u7537\u6027<\/td><td>4%<\/td>\n<\/tr>\n<tr>\n<th>99<\/th><td>6 + 0<\/td><td>\u5c1a\u672a\u8bb0\u5f55<\/td><td>5111<\/td><td>27<\/td><td>4<\/td><td>5\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u7537\u6027<\/td><td>\u65e0\u5f02\u5e38<\/td><td>\u7537\u6027<\/td><td>6%<\/td>\n<\/tr>\n<tr>\n<th>133<\/th><td>\u5c1a\u672a\u8bb0\u5f55<\/td><td>\u5c1a\u672a\u8bb0\u5f55<\/td><td>57,348<\/td><td>34<\/td><td>4<\/td><td>7q36.2q36.3\u7684\u672b\u7aef\u7f3a\u5931(6Mb)\u306819q13.12q13.43\u7684\u672b\u7aef\u91cd\u53e0 (21Mb)<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230: \u91cd\u590d (19) (q13.12q13.43)<\/td><td>\u5973\u6027<\/td><td>7%<\/td>\n<\/tr>\n<tr>\n<th>163<\/th><td>8 + 4<\/td><td>20.1<\/td><td>13,466<\/td><td>24<\/td><td>3<\/td><td>\u7279\u7eb3\u7efc\u5408\u75c7<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230: XO<\/td><td>\u5973\u6027<\/td><td>7%<\/td>\n<\/tr>\n<tr>\n<th>164<\/th><td>6 + 0<\/td><td>9<\/td><td>6774<\/td><td>42<\/td><td>2<\/td><td>15\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230: +15<\/td><td>\u5973\u6027<\/td><td>5%<\/td>\n<\/tr>\n<tr>\n<th>175<\/th><td>8 + 0<\/td><td>No FP seen<\/td><td>5323<\/td><td>34<\/td><td>6<\/td><td>\u7279\u7eb3\u7efc\u5408\u75c7<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230: XO<\/td><td>\u5973\u6027<\/td><td>5%<\/td>\n<\/tr>\n<tr>\n<th>176<\/th><td>7 + 0<\/td><td>14<\/td><td>491<\/td><td>43<\/td><td>2<\/td><td>15\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230: +15<\/td><td>\u5973\u6027<\/td><td>5%<\/td>\n<\/tr>\n<tr>\n<th>202<\/th><td>6 + 0<\/td><td>5<\/td><td>13,819<\/td><td>29<\/td><td>4<\/td><td>4q34.3q35.2\uff089Mb\uff09\u7684\u672b\u7aef\u91cd\u590d\u548c5q33.1q35.3\uff0830Mb\uff09\u7684\u672b\u7aef\u7f3a\u5931<\/td><td>\u5973\u6027<\/td><td>\u65e0\u5f02\u5e38<\/td><td>\u5973\u6027<\/td><td>4%<\/td>\n<\/tr>\n<tr>\n<th>228<\/th><td>7 + 0<\/td><td>12<\/td><td>6220<\/td><td>41<\/td><td>5<\/td><td>21\u53f7\u67d3\u8272\u4f53\u5355\u4f53\u7efc\u5408\u75c7<\/td><td>\u7537\u6027<\/td><td>\u68c0\u6d4b\u5230: \u91cd\u590d (15) (q21.3q23); \u91cd\u590d (20) (q11.21q13.12)<\/td><td>\u7537\u6027<\/td><td>3%<\/td>\n<\/tr>\n<tr>\n<th>245<\/th><td>\u5c1a\u672a\u8bb0\u5f55<\/td><td>6.5<\/td><td>14,762<\/td><td>33<\/td><td>3<\/td><td>22\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u7537\u6027<\/td><td>\u65e0\u5f02\u5e38<\/td><td>\u7537\u6027<\/td><td>4%<\/td>\n<\/tr>\n<tr>\n<th>260<\/th><td>7 + 0<\/td><td>\u5c1a\u672a\u8bb0\u5f55<\/td><td>5194<\/td><td>43<\/td><td>2<\/td><td>22\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u7537\u6027<\/td><td>\u65e0\u5f02\u5e38<\/td><td>\u7537\u6027<\/td><td>4%<\/td>\n<\/tr>\n<tr>\n<th>\u6837\u672c<br>ID<\/th><th>\u6000\u5b55 (\u5468)<\/th><th>CRL(mm)<\/th><th>BhCG<br>(mIU\/mL)<\/th><th>\u6bcd\u4eb2\u5e74\u9f84<br>(\u5e74)<\/th><th>\u4e0a\u4e00\u6b21<br>\u6d41\u4ea7\u4eba\u6570<\/th><th>POC\u7ed3\u679c<\/th><th>POC<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a><\/th><th>CfDNA\u7ed3\u679c<\/th><th>CfDNA<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a><\/th><th>\u80ce\u513f\u7387<\/th>\n<\/tr>\n<tr>\n<th>264<\/th><td>6 + 0<\/td><td>4<\/td><td>14,002<\/td><td>33<\/td><td>\u5c1a\u672a\u8bb0\u5f55<\/td><td>13\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230:  +13; +16<\/td><td>\u5973\u6027<\/td><td>4%<\/td>\n<\/tr>\n<tr>\n<th>279<\/th><td>6 + 0<\/td><td>6<\/td><td>8429<\/td><td>40<\/td><td>4<\/td><td>7\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230: +7<\/td><td>\u5973\u6027<\/td><td>12%<\/td>\n<\/tr>\n<tr>\n<th>287<\/th><td>\u5c1a\u672a\u8bb0\u5f55<\/td><td>4<\/td><td>\u5c1a\u672a\u8bb0\u5f55<\/td><td>42<\/td><td>0<\/td><td>12\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230: +12<\/td><td>\u5973\u6027<\/td><td>4%<\/td>\n<\/tr>\n<tr>\n<th>290<\/th><td>5 + 0<\/td><td>5.2<\/td><td>44,313<\/td><td>39<\/td><td>0<\/td><td>16\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230: +16<\/td><td>\u5973\u6027<\/td><td>7%<\/td>\n<\/tr>\n<tr>\n<th>303<\/th><td>6 + 0<\/td><td>1.9<\/td><td>34,087<\/td><td>35<\/td><td>3<\/td><td>13q13.3q34\u4e0a\u7684\u7f3a\u5931 (70 Mb)<\/td><td>\u5973\u6027<\/td><td>\u65e0\u5f02\u5e38<\/td><td>\u5973\u6027<\/td><td>5%<\/td>\n<\/tr>\n<tr>\n<th>319<\/th><td>7 + 0<\/td><td>9.3<\/td><td>13,642<\/td><td>40<\/td><td>6<\/td><td>\u91cd\u590d 7q22.1q36.3 (56 Mb)<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230: \u91cd\u590d (7) (q22.1q31.1)<\/td><td>\u5973\u6027<\/td><td>7%<\/td>\n<\/tr>\n<tr>\n<th>328<\/th><td>\u5c1a\u672a\u8bb0\u5f55<\/td><td>4.4<\/td><td>2983<\/td><td>42<\/td><td>3<\/td><td>11\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u5973\u6027<\/td><td>\u65e0\u5f02\u5e38<\/td><td>\u5973\u6027<\/td><td>4%<\/td>\n<\/tr>\n<tr>\n<th>400<\/th><td>5 + 6<\/td><td>4.6<\/td><td>29,052<\/td><td>42<\/td><td>5<\/td><td>22\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u7537\u6027<\/td><td>\u68c0\u6d4b\u5230: +22<\/td><td>\u7537\u6027<\/td><td>3%<\/td>\n<\/tr>\n<tr>\n<th>462<\/th><td>6 + 1<\/td><td>3<\/td><td>22,429<\/td><td>40<\/td><td>2<\/td><td>15\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u7537\u6027<\/td><td>\u68c0\u6d4b\u5230: +15<\/td><td>\u7537\u6027<\/td><td>5%<\/td>\n<\/tr>\n<tr>\n<th>519<\/th><td>9 + 3<\/td><td>26.31<\/td><td>100,638<\/td><td>28<\/td><td>6<\/td><td>21\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u7537\u6027<\/td><td>\u68c0\u6d4b\u5230: +21<\/td><td>\u7537\u6027<\/td><td>10%<\/td>\n<\/tr>\n<tr>\n<th>529<\/th><td>7 + 0<\/td><td>\u5c1a\u672a\u8bb0\u5f55<\/td><td>21,171<\/td><td>39<\/td><td>5<\/td><td>\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c721\u548c\u67d3\u8272\u4f53\u5355\u4f53\u7efc\u5408\u75c7X<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230:  +21<\/td><td>\u5973\u6027<\/td><td>5%<\/td>\n<\/tr>\n<tr>\n<th>541<\/th><td>7 + 3<\/td><td>12.02<\/td><td>42,333<\/td><td>33<\/td><td>2<\/td><td>15\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230: +15<\/td><td>\u5973\u6027<\/td><td>8%<\/td>\n<\/tr>\n<tr>\n<th>586<\/th><td>6 + 0<\/td><td>5.28<\/td><td>22,435<\/td><td>41<\/td><td>2<\/td><td>\u9576\u5d4c\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c717<\/td><td>\u5973\u6027<\/td><td>\u68c0\u6d4b\u5230: \u7f3a\u5931 (6) (p25.1p22.3); +18<\/td><td>\u5973\u6027<\/td><td>4%<\/td>\n<\/tr>\n<tr>\n<th>816<\/th><td>5 + 0<\/td><td>\u6ca1\u6709\u770b\u5230FP<\/td><td>5852<\/td><td>40<\/td><td>3<\/td><td>18\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u5973\u6027<\/td><td>\u65e0\u5f02\u5e38<\/td><td>\u5973\u6027<\/td><td>4%<\/td>\n<\/tr>\n<tr>\n<th>965<\/th><td>7 + 6<\/td><td>14.7<\/td><td>73,962<\/td><td>42<\/td><td>3<\/td><td>15\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7<\/td><td>\u7537\u6027<\/td><td>\u691c\u51fa\u6e08: +15<\/td><td>\u7537\u6027<\/td><td>\u65e0\u6548<\/td>\n<\/tr>\n<\/tbody>\n<tfoot>\n<tr><td colspan=\"11\">\u7eff\u8272\u8868\u793a\u7684CfDNA\u7ed3\u679c\u4e0ePOC\u7ed3\u679c\u4e00\u81f4\uff0c\u7ea2\u8272\u8868\u793a\u7684\u7ed3\u679c\u4e0ePOC\u7ed3\u679c\u4e0d\u4e00\u81f4\u3002<\/td>\n<\/tr><\/tfoot>\n<\/table>\n<\/div>\n\n\n\n<table>\n<caption><strong>Table 3.<\/strong> POC\u7684CfDNA\u5bf9\u6838\u578b<\/caption>\n<colgroup>\n<col style=\"width:25%;\">\n<col style=\"width:25%;\">\n<col style=\"width:25%;\">\n<col style=\"width:25%;\">\n<\/colgroup>\n<thead>\n<tr>\n<td colspan=\"2\"><\/td>\n<th colspan=\"2\">CfDNA\u7684\u7ed3\u679c<\/th>\n<\/tr>\n<tr>\n<td colspan=\"2\"><\/td>\n<th>\u6b63\u5e38\u8bc6\u522b (%)<\/th>\n<th>\u65e0\u6cd5\u8bc6\u522b (%)<\/th>\n<\/tr>\n<\/thead>\n<tbody>\n<tr>\n    <td><\/td>\n    <td>\u603b\u8ba1<\/td>\n    <td>43 (75.4)<\/td>\n    <td>14 (324.6)<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"4\">\u6000\u5b55\u671f\u95f4 (\u5468)<\/th>\n<td>\u4e0d\u6ee17\u5468<\/td>\n<td>14 (66.7)<\/td>\n<td>7 (33.3)<\/td>\n<\/tr>\n<tr>\n<td>7\uff5e8\u5468<\/td>\n<td>10 (76.9)<\/td>\n<td>3 (23.1)<\/td>\n<\/tr>\n<tr>\n<td>8\u4ee5\u4e0a<\/td>\n<td>11 (100.0)<\/td>\n<td>0 (0.0)<\/td>\n<\/tr>\n<tr>\n<td>\u672a\u77e5<\/td>\n<td>8 (53.3)<\/td>\n<td>7 (46.7)<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"3\">\u03b2hCG (mIU\/mL)<\/th>\n<td>\u4e0d\u6ee18000<\/td>\n<td>9 (60.0)<\/td>\n<td>6 (40.0)<\/td>\n<\/tr>\n<tr>\n<td>8000\uff5e35,000<\/td>\n<td>14 (66.7)<\/td>\n<td>7 (33.3)<\/td>\n<\/tr>\n<tr>\n<td>35,000\u4ee5\u4e0a<\/td>\n<td>19 (95.0)<\/td>\n<td>1 (5.0)<\/td>\n<\/tr>\n<tr>\n<th rowspan=\"3\">\u80ce\u513f\u767e\u5206\u6bd4(%)<\/th>\n<td>\u4e0d\u6ee15<\/td>\n<td>13 (59.1)<\/td>\n<td>9 (40.9)<\/td>\n<\/tr>\n<tr>\n<td>5\uff5e8<\/td>\n<td>19 (79.2)<\/td>\n<td>5 (20.8)<\/td>\n<\/tr>\n<tr>\n<td>9\u4ee5\u4e0a<\/td>\n<td>10 (100.0)<\/td>\n<td>0 (0.0)<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%AE%A8%E8%AE%BA\"><\/span>4. <strong>\u8ba8\u8bba<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6211\u4eec\u7684cfDNA\u7814\u7a76\u961f\u5217\u662f\u901a\u8fc7\u4f2f\u660e\u7ff0\u5987\u5973\u533b\u9662\u548c\u5927\u5b66\u533b\u9662\u8003\u6587\u5782\u548c\u6c83\u91cc\u514b\u90e1\u7684Tommy&#8217;sNational Center for Miscarriage Research\u62db\u52df\u7684\u3002\u4f7f\u7528\u4fee\u9970\u7684VeriSeqTM <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> V 2 (Illumina) \u8bc4\u4f30\u603b\u5171102\u4e2a\u6837\u54c1\uff0c\u5e76\u901a\u8fc7\u76f8\u5e94\u7684POC\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\u5206\u679057\u4e2a\u6837\u54c1\u3002<\/p>\n\n\n\n<p>cfDNA\u5206\u6790\u5206\u4e3a\u4e09\u7c7b (\u88683) \u3002\u5728\u80ce\u5206\u7387\u4f4e\u7684\u60c5\u51b5\u4e0b,\u4f4e\u4e8e5%\u7684\u80ce\u5206\u7387\u53ea\u670960%\u7684\u6837\u672c\u8bc1\u5b9e\u67d3\u8272\u4f53\u5f02\u5e38,\u5176\u4e2d\u5927\u591a\u6570\u662f\u5f02\u5375\u6000\u5b55\u3002\u53e6\u4e00\u65b9\u9762\uff0c\u5982\u679c\u80ce\u513f\u7387\u4e3a9%\u6216\u66f4\u9ad8\uff0c\u5219100%\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u7ed3\u679c\u88ab\u6b63\u786e\u8bc6\u522b\u3002\u5728\u6211\u4eec\u7684\u7814\u7a76\u4e2d\uff0c\u6211\u4eec\u6ce8\u610f\u5230\u5982\u679c\u80ce\u513f\u7387\u8d85\u8fc75%\uff0c\u5219\u53ef\u4ee5\u68c0\u6d4b\u5230\u5927\u591a\u6570\u5f02\u5e38\u3002\u7136\u800c\uff0c\u7531\u4e8e\u6837\u672c\u6570\u91cf\u5c11\uff0c\u4e14\u5b58\u5728\u751f\u7269\u53d8\u5316,\u56e0\u6b64\u5f88\u96be\u5b9a\u4e49\u51c6\u786e\u7684\u622a\u65ad\u70b9\u3002<\/p>\n\n\n\n<p>POC\u57fa\u56e0\u68c0\u6d4b\u7ed3\u679c\u4e0ecfDNA\u68c0\u6d4b\u7ed3\u679c\u4e4b\u95f4\u7684\u5dee\u5f02\u53ef\u80fd\u7531\u80ce\u76d8\u5d4c\u5408\u4f53\u5f15\u8d77\u3002CfDNA\u5206\u6790\u4ec5\u68c0\u6d4b\u6765\u81ea\u80ce\u76d8\/\u7ec6\u80de\u6bcd\u7ec6\u80de\u7684DNA,\u800cPOC\u68c0\u67e5\u53ef\u80fd\u5305\u542b\u80ce\u513f\u7ec4\u7ec7\u548c\u6574\u4e2a\u80ce\u76d8\u7ec4\u7ec7\u3002\u8fd9\u53ef\u80fd\u5bfc\u81f4\u7ed3\u679c\u4e0d\u4e00\u81f4\u3002\u5728\u4e24\u79cd\u60c5\u51b5\u4e0b\uff0c\u901a\u8fc7POC\u5206\u6790\u9274\u5b9a\u4e86\u65e0\u6cd5\u901a\u8fc7cfDNA\u68c0\u6d4b\u9274\u5b9a\u7684\u5d4c\u5408\u4f53\u57fa\u56e0\u5f02\u5e38\u3002\u8fd9\u4e9b\u7ed3\u679c\u53ef\u80fd\u662f\u7531\u4e8e\u80ce\u76d8\u5d4c\u5408\u4f53\u5c40\u9650\u4e8e\u817a\u4f53\u7ec6\u80de,\u4e5f\u53ef\u80fd\u662f\u7531\u4e8e\u76ee\u524d\u65b9\u6cd5\u7684\u5c40\u9650\u6027\u3002\u9576\u5d4c\u4f53\u5f88\u96be\u901a\u8fc7\u4efb\u4f55\u65b9\u6cd5\u8fdb\u884c\u8bca\u65ad,\u5e76\u4e14cfDNA\u5206\u6790\u53ef\u80fd\u5728\u76ee\u524d\u7684POC\u68c0\u6d4b\u4e2d\u8d77\u5230\u8f85\u52a9\u4f5c\u7528,\u4ee5\u68c0\u6d4b\u4e0e\u751f\u7269\u5b66\u76f8\u5173\u7684\u5f02\u5e38\u7ec6\u80de\u7cfb\u3002<\/p>\n\n\n\n<p>\u6258\u7c73\u7684\u6d41\u4ea7\u7814\u7a76\u56fd\u5bb6\u4e2d\u5fc3\u4e13\u95e8\u7167\u987e\u53cd\u590d\u6d41\u4ea7\u7684\u5bb6\u5ead\u3002\u8fd9\u4e9b\u5bb6\u5ead\u975e\u5e38\u4e86\u89e3\u81ea\u5df1\u4f55\u65f6\u6000\u5b55,\u5e76\u901a\u8fc7\u5728\u7b2c\u4e00\u6b21\u6000\u5b55\u671f\u95f4\u5bc6\u5207\u76d1\u6d4b\u6765\u83b7\u76ca\u3002\u56e0\u6b64\uff0c\u6211\u4eec\u7814\u7a76\u5c0f\u7ec4\u7684\u6d41\u4ea7\u8bca\u65ad\u6bd4\u5176\u4ed6\u7814\u7a76\u66f4\u65e9\u3002Clark-Ganheart\u7b49\u4eba [6] \u8bb0\u5f55\u4e8616.9\u5468 (6.1 -37.2) \uff0c Yaron\u7b49\u4eba [7] \u8bb0\u5f55\u4e869.6\u5468 (5.1 -13.6) (\u56fe2) \u3002<\/p>\n\n\n\n<p>\u8fd9\u9879\u7814\u7a76\u548c\u5176\u4ed6\u7814\u7a76\u8868\u660e\uff0c\u5728\u5927\u591a\u6570\u6000\u5b55\u7ec4\u7ec7\u4ecd\u5728\u539f\u4f4d\u7684\u5931\u5b55\u75c5\u4f8b\u4e2d,\u53ef\u4ee5\u4f7f\u7528cfDNA\u68c0\u6d4b\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u5728\u8fd9\u9879\u7814\u7a76\u4e2d\uff0c 59%\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u88ab\u51c6\u786e\u8bc6\u522b,\u4e0ePOC\u7ed3\u679c\u7684\u7b26\u5408\u7387\u4e3a75%\u3002\u5bf9\u6b64\uff0cClark-Ganheart\u7b49 [6] \u5728\u6709\u53ef\u5229\u7528\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u7ed3\u679c\u7684\u60c5\u51b5\u4e0b\uff0c\u663e\u793a\u4e8687.5%\u7684\u4e00\u81f4\u7387\uff0c Yaron\u7b49 [7] \u5728\u4f7f\u7528\u6000\u5b55\u635f\u5931\u7279\u5f02\u6027\u7684LLR\u9608\u503c\u7684\u60c5\u51b5\u4e0b,\u663e\u793a\u4e8682%\u7684\u5339\u914d\u7387\u3002Yaron\u7b49 [7] \u4f7f\u752850\u4f8b\u4f5c\u4e3a\u8bad\u7ec3\u7ec4,\u8bbe\u5b9a\u6000\u5b55\u635f\u5931\u7279\u5f02\u6027LLR\u9608\u503c\u3002\u975e\u5d4c\u5408\u4f53\u75c5\u4f8b86\u4f8b,\u603b\u4f53\u68c0\u51fa\u7387\u4e3a82%\u3002\u8fd9\u662f\u5728\u57fa\u4e8e\u8bad\u7ec3\u7ec4\u8bc6\u522b\u6000\u5b55\u635f\u5931\u7279\u5f02\u6027LLR\u4e4b\u540e\u5b9e\u73b0\u7684\u3002\u8be5\u4e8b\u5b9e\u8868\u660e,\u8be5\u961f\u5217\u6240\u9700\u7684LLR\u5fc5\u987b\u4e0d\u540c\u4e8e\u5355\u80ce\u6000\u5b55\u3002\u4e3a\u4e86\u8fdb\u884c\u6bd4\u8f83\uff0c\u672c\u7814\u7a76\u4f7f\u7528\u6807\u51c6\u7684NIPT LLR\u622a\u65ad\u6cd5\u5206\u6790cfDNA,\u5177\u6709\u6000\u5b55\u635f\u5931\u7279\u5f02\u6027\u7684LLR\u53ef\u80fd\u4f1a\u63d0\u9ad8\u68c0\u51fa\u7387\u3002\u8be5\u7814\u7a76\u7684\u4e0b\u4e00\u6b65\u662f\u4f7f\u7528\u4e0eYaron\u7b49\u4eba [7] \u63d0\u51fa\u7684\u7b97\u6cd5\u76f8\u540c\u7684\u7b97\u6cd5\uff0c\u4f7f\u7528\u4fee\u6539\u8fc7\u7684LLR\u8fdb\u884c\u7ba1\u9053\u6d4b\u8bd5\uff0c\u4ee5\u4f18\u5316\u8be5\u961f\u5217\u4e2d\u6240\u6709\u5e38\u67d3\u8272\u4f53\u4e09\u4f53\u6027\u7684\u68c0\u51fa\u7387\u3002<\/p>\n\n\n\n<figure class=\"fig_svg2\">\n<svg xmlns=\"http:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 424.02 395.52\">\n\t<defs>\n\t\t<style>.fig_svg2 svg .a,.fig_svg2 svg .b,.fig_svg2 svg .r,.fig_svg2 svg .fig_svg2 svg .s{fill:none;stroke-miterlimit:10;}\n.fig_svg2 svg .a{stroke:#61adff;}\n.fig_svg2 svg .b,\n.fig_svg2 svg .r,\n.fig_svg2 svg .s{stroke:#000;}\n.fig_svg2 svg .b{stroke-width:0.5px;}\n.fig_svg2 svg .c{font-size:12px;}\n.fig_svg2 svg .c,\n.fig_svg2 svg .k{}\n.fig_svg2 svg .d{font-size:18.24px;}\n.fig_svg2 svg .e{letter-spacing:0.06em;}\n.fig_svg2 svg .f{letter-spacing:0.15em;}\n.fig_svg2 svg .g{letter-spacing:0.06em;}\n.fig_svg2 svg .h{letter-spacing:0.04em;}\n.fig_svg2 svg .i{letter-spacing:-0.02em;}\n.fig_svg2 svg .j{letter-spacing:0.04em;}\n.fig_svg2 svg .k{writing-mode:tb;text-orientation:upright;glyph-orientation-vertical:0deg;font-size:13.68px;}\n.fig_svg2 svg .l{letter-spacing:0.12em;}\n.fig_svg2 svg .m{letter-spacing:0.23em;}\n.fig_svg2 svg .n{letter-spacing:0.25em;}\n.fig_svg2 svg .o{fill:red;}\n.fig_svg2 svg .p{fill:#29ce3d;}\n.fig_svg2 svg .q{fill:#2511ed;}\n.fig_svg2 svg .r{stroke-width:0.75px;}\n.fig_svg2 svg .s{stroke-width:2px;}\ntext[writing-mode=\"tb\"] {\n  letter-spacing: -4px;\n}\n<\/style>\n\t<\/defs>\n\t<line class=\"a\" x1=\"55.51\" y1=\"41.59\" x2=\"424.02\" y2=\"41.59\"><\/line>\n\t<line class=\"a\" x1=\"55.51\" y1=\"81.22\" x2=\"424.02\" y2=\"81.22\"><\/line>\n\t<line class=\"a\" x1=\"55.51\" y1=\"120.84\" x2=\"424.02\" y2=\"120.84\"><\/line>\n\t<line class=\"a\" x1=\"55.51\" y1=\"160.47\" x2=\"424.02\" y2=\"160.47\"><\/line>\n\t<line class=\"a\" x1=\"55.51\" y1=\"200.09\" x2=\"424.02\" y2=\"200.09\"><\/line>\n\t<line class=\"a\" x1=\"55.51\" y1=\"239.72\" x2=\"424.02\" y2=\"239.72\"><\/line>\n\t<line class=\"a\" x1=\"55.51\" y1=\"279.34\" x2=\"424.02\" y2=\"279.34\"><\/line>\n\t<line class=\"a\" x1=\"55.51\" y1=\"318.97\" x2=\"424.02\" y2=\"318.97\"><\/line>\n\t<line class=\"a\" x1=\"55.51\" y1=\"358.59\" x2=\"424.02\" y2=\"358.59\"><\/line>\n\t<line class=\"b\" x1=\"62.51\" y1=\"41.59\" x2=\"62.51\" y2=\"358.59\"><\/line>\n\t<text class=\"c\" transform=\"translate(35.27 45.39)\">40<\/text>\n\t<text class=\"c\" transform=\"translate(35.27 85.39)\">35<\/text>\n\t<text class=\"c\" transform=\"translate(35.27 124.39)\">30<\/text>\n\t<text class=\"c\" transform=\"translate(35.27 164.39)\">25<\/text>\n\t<text class=\"c\" transform=\"translate(35.27 203.39)\">20<\/text>\n\t<text class=\"c\" transform=\"translate(35.27 243.39)\">15<\/text>\n\t<text class=\"c\" transform=\"translate(35.27 282.39)\">10<\/text>\n\t<text class=\"c\" transform=\"translate(39.27 322.39)\">5<\/text>\n\t<text class=\"c\" transform=\"translate(39.27 362.39)\">0<\/text>\n\t<text class=\"d\" transform=\"translate(70.01 16.05)\">\n\t\t<tspan class=\"e\">\u901a\u8fc7cffDNA\u89e3\u6790\u7684\u6d41\u4ea7\u7684\u6000\u5b55\u5e74\u9f84\u4e2d\u95f4\u503c<\/tspan>\n\t<\/text>\n\t<text class=\"k\" transform=\"translate(6.84 160.09)\" glyph-orientation-vertical=\"0\" writing-mode=\"tb\">\n\t\t<tspan class=\"l\">\u6000\u5b55 (\u5468) <\/tspan>\n\t<\/text>\n\t<circle class=\"o\" cx=\"169.01\" cy=\"283.09\" r=\"3.5\"><\/circle>\n\t<rect class=\"p\" x=\"240.01\" y=\"220.09\" width=\"7\" height=\"7\"><\/rect>\n\t<polygon class=\"q\" points=\"326.75 299.09 322.71 306.09 330.79 306.09 326.75 299.09\"><\/polygon>\n\t<line class=\"r\" x1=\"169.01\" y1=\"298.59\" x2=\"169.01\" y2=\"267.09\"><\/line>\n\t<line class=\"s\" x1=\"165.51\" y1=\"266.59\" x2=\"172.6\" y2=\"266.59\"><\/line>\n\t<line class=\"s\" x1=\"165.51\" y1=\"297.59\" x2=\"172.6\" y2=\"297.59\"><\/line>\n\t<line class=\"r\" x1=\"243.97\" y1=\"316.59\" x2=\"243.97\" y2=\"57.26\"><\/line>\n\t<line class=\"s\" x1=\"240.47\" y1=\"56.76\" x2=\"247.56\" y2=\"56.76\"><\/line>\n\t<line class=\"s\" x1=\"240.47\" y1=\"315.76\" x2=\"247.56\" y2=\"315.76\"><\/line>\n\t<line class=\"r\" x1=\"326.97\" y1=\"318.59\" x2=\"326.97\" y2=\"268.59\"><\/line>\n\t<line class=\"s\" x1=\"323.47\" y1=\"317.76\" x2=\"330.56\" y2=\"317.76\"><\/line>\n\t<line class=\"s\" x1=\"323.47\" y1=\"268.76\" x2=\"330.56\" y2=\"268.76\"><\/line>\n\t<text class=\"c\" transform=\"translate(254.01 227.5)\">16.9<\/text>\n\t<text class=\"c\" transform=\"translate(179.39 291.5)\">9.6<\/text>\n\t<text class=\"c\" transform=\"translate(336.7 308.5)\">7.1<\/text>\n\t<circle class=\"o\" cx=\"97.35\" cy=\"387.76\" r=\"3.5\"><\/circle>\n\t<rect class=\"p\" x=\"193.01\" y=\"384.09\" width=\"7\" height=\"7\"><\/rect>\n\t<polygon class=\"q\" points=\"339.75 384.09 335.71 391.09 343.79 391.09 339.75 384.09\"><\/polygon>\n\t<text class=\"c\" transform=\"translate(108.48 391.45)\">Yaron et al.<\/text>\n\t<text class=\"c\" transform=\"translate(207.48 391.45)\">Clark-Ganheart et al.<\/text>\n\t<text class=\"c\" transform=\"translate(348.48 391.45)\">This study<\/text>\n<\/svg>\n<figcaption>\n<strong>\u56fe2.<\/strong> \u8d85\u58f0\u6ce2\u626b\u63cf\u7684\u6000\u5b55\u635f\u5931\u7684\u6000\u5b55\u6570 [6,7]\n<\/figcaption>\n<\/figure>\n\n\n\n<p>\u672c\u7814\u7a76\u548c\u5176\u4ed6\u7814\u7a76 [6,7] \u8868\u660e\uff0c cfDNA\u53ef\u7528\u4e8e\u8bc4\u4f30\u6d41\u4ea7\u7684\u9057\u4f20\u8d21\u732e\u3002\u7136\u800c\uff0c\u4ecd\u6709\u4e00\u4e9b\u9057\u4f20\u5f02\u5e38\u53ef\u80fd\u4f1a\u88ab\u9057\u6f0f\uff0c\u8fd9\u53d6\u51b3\u4e8e\u6240\u7528\u7684\u68c0\u6d4b\u65b9\u6cd5 (\u4f8b\u5982,\u4e09\u500d\u4f53\u6216\u5d4c\u5408\u4f53\u6837\u672c,\u4f4e\u80ce\u513f\u7387\/\u4f4e\u598a\u5a20\u671f\u5e38\u67d3\u8272\u4f53\u4e09\u4f53) \u3002\u4e09\u500d\u4f53\u7684\u75c5\u4f8b\uff0c\u7531\u4e8e\u4fee\u6b63\u540e\u7684Illumina VeriSeqTM <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> solutionv2\u5de5\u4f5c\u6d41\u65e0\u6cd5\u68c0\u6d4b\u51fa\u6765,\u56e0\u6b64\u5728\u672c\u7814\u7a76\u548cYaron\u7b49\u4eba [7] \u4e2d\u90fd\u88ab\u6392\u9664\u3002\u7136\u800c\uff0c\u57fa\u4e8e\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\u7684cfDNA\u5206\u6790\u5e73\u53f0\u5e94\u8be5\u80fd\u591f\u9274\u5b9a\u4e09\u500d\u4f53\u75c5\u4f8b\u3002<\/p>\n\n\n\n<p>cfDNA\u4e0d\u80fd\u5b8c\u5168\u53d6\u4ee3\u76ee\u524d\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u68c0\u67e5\u3002Yaron\u7b49\u4eba [7] \u63d0\u51fa\u4e86\u4e00\u79cd\u590d\u53d1\u6027\u6000\u5b55\u635f\u5931\u7b97\u6cd5,\u5229\u7528cfDNA\u68c0\u6d4b\u590d\u53d1\u6027\u6000\u5b55\u635f\u5931\u3002<\/p>\n\n\n\n<p>\u5982\u679c\u8bca\u65ad\u4e3a\u7b2c\u4e09\u6b21\u6216\u7b2c\u4e09\u6b21\u6d41\u4ea7,\u6839\u636e\u7687\u5bb6\u9ad8\u7b49\u533b\u5b66\u79d1\u5b66\u9662 (RCOG) \u7eff\u8272\u9876\u90e8\u6307\u5357\u7b2c17\u53f7 [4] \u7684\u73b0\u884c\u6307\u5357,\u5e94\u68c0\u67e5\u6000\u5b55\u7ec4\u7ec7\u4e2d\u662f\u5426\u5b58\u5728\u80ce\u513f\u975e\u6574\u500d\u4f53\u3002\u5728\u6b64\u5e38\u89c4\u68c0\u67e5\u7684\u540c\u65f6\uff0c\u53ef\u91c7\u96c6\u6bcd\u4eb2\u7684\u8840\u6837\u4ee5\u5b8c\u6210cfDNA\u68c0\u6d4b\u3002\u5982\u679ccfDNA\u68c0\u6d4b\u5230\u5f02\u6570\u5e76\u89e3\u91ca\u4e86\u6d41\u4ea7\u7684\u539f\u56e0\uff0c\u5219\u4e0d\u9700\u8981\u8fdb\u4e00\u6b65\u7684\u64cd\u4f5c\uff0c\u56e0\u4e3a\u6570\u5b57\u8bef\u5dee\u901a\u5e38\u662f\u96f6\u661f\u53d1\u751f\u7684,\u540e\u7eed\u6210\u529f\u6000\u5b55\u7684\u53ef\u80fd\u6027\u4e0d\u4f1a\u53d7\u5230\u8d1f\u9762\u5f71\u54cd\u3002\u7531\u4e8ecfDNA\u53ea\u68c0\u6d4b\u4e0d\u5e73\u8861\u7684\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u5982\u679ccfDNA\u672a\u68c0\u6d4b\u5230\u67d3\u8272\u4f53\u5f02\u5e38\uff0c\u5e94\u8fdb\u884cPOC\u7684\u7ec6\u80de\u9057\u4f20\u5b66\u5206\u6790\uff0c\u4ee5\u786e\u5b9a\u662f\u5426\u5b58\u5728cfDNA\u68c0\u6d4b\u4e0d\u5230\u7684\u67d3\u8272\u4f53\u5f02\u5e38(CNV\u3001\u4e09\u500d\u4f53\u3001\u5d4c\u5408\u4f53\u6837\u54c1\u7b49) \u3002\u8fd9\u53ef\u4ee5\u51cf\u5c11\u6240\u9700POC\u6d4b\u8bd5\u7684\u6570\u91cf\uff0c\u5e76\u53ef\u80fd\u4e3a\u8bb8\u591a\u65e0\u6cd5\u4f7f\u7528POC\u7684\u60a3\u8005\u63d0\u4f9b\u7ed3\u679c\u3002\u5373\u4f7fPOC\u4e0d\u53ef\u7528\uff0c\u4e5f\u8981\u6ce8\u610f\u5ffd\u7565\u67d0\u4e9b\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u5982\u679c\u53d1\u73b0\u4e0d\u5e73\u8861\u6613\u4f4d\uff0c\u5e94\u63a8\u8350\u7236\u6bcd\u8fdb\u884c\u6838\u578b\u68c0\u67e5,\u4ee5\u8bc4\u4f30\u7236\u6bcd\u4e2d\u7684\u4e00\u65b9 (\u6216\u53cc\u65b9) \u662f\u5426\u662f\u8be5\u6613\u4f4d\u7684\u643a\u5e26\u8005\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E7%BB%93%E8%AE%BA\"><\/span>5. <strong>\u7ed3\u8bba<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<p>\u4e86\u89e3\u6000\u5b55\u635f\u5931\u7684\u9057\u4f20\u7ed3\u679c\u53ef\u4ee5\u7528\u4e8e\u54a8\u8be2\u60a3\u8005\u4ee5\u4e86\u89e3\u672a\u6765\u6000\u5b55\u7684\u9884\u540e\u3002\u4e5f\u53ef\u4ee5\u5e2e\u52a9\u4eba\u4eec\u6446\u8131\u5931\u5b55\u7684\u7f6a\u6076\u611f,\u63d0\u4f9b\u5fc3\u7406\u4e0a\u7684\u652f\u63f4\u3002<\/p>\n\n\n\n<p>\u4f7f\u7528cfDNA\u6765\u786e\u5b9a\u6d41\u4ea7\u7684\u539f\u56e0\u662f\u5426\u662f\u7531\u4e8e\u67d3\u8272\u4f53\u5f02\u5e38\u5bfc\u81f4\u7684\uff0c\u8fd9\u5c06\u5bf9\u65e0\u6cd5\u8fdb\u884c\u6d4b\u8bd5\u7684\u6000\u5b55\u7ec4\u7ec7\u6216\u4e0d\u80fd\u8fdb\u884c\u5e38\u89c4\u7ec6\u80de\u9057\u4f20\u5b66\u6d4b\u8bd5\u7684\u60a3\u8005\u4ea7\u751f\u91cd\u5927\u7684\u4e34\u5e8a\u5f71\u54cd\u3002\u4f46\u662f\uff0c\u53ea\u6709\u5728\u8bca\u65ad\u6d41\u4ea7\u65f6\u4ecd\u7136\u6000\u5b55\u7684\u60c5\u51b5\u4e0b,\u624d\u80fd\u8fdb\u884ccfDNA\u68c0\u67e5\u3002<\/p>\n\n\n\n<p>\u5f53\u6000\u5b55\u7ec4\u7ec7\u4ecd\u5728\u539f\u4f4d\u65f6,\u5c31\u91c7\u96c6\u6bcd\u4f53\u8840\u6d46\u6837\u672c,\u5e76\u8bc1\u660e\u5728\u67d0\u4e9b\u60c5\u51b5\u4e0b,\u5982\u679c\u80ce\u513f\u90e8\u5206\u5145\u8db3, cfDNA\u53ef\u7528\u4e8e\u68c0\u6d4b\u6d41\u4ea7\u7684\u9057\u4f20\u5f02\u5e38\u3002\u9700\u8981\u8fdb\u4e00\u6b65\u7684\u5de5\u4f5c\u6765\u6539\u8fdb\u8be5\u6d4b\u8bd5\uff0c\u5e76\u786e\u5b9a\u53ef\u80fd\u5f71\u54cd\u603b\u4f53\u7ed3\u679c\u7684\u53d8\u91cf\uff0c\u4ee5\u4fbf\u5176\u53ef\u7528\u4e8e\u4e34\u5e8a\u3002<\/p>\n\n\n\n<h4 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><\/h4>\n\n\n\n<p>E.C.\u2013\u6570\u636e\u5206\u6790\u548c\u5199\u4f5c;A.J.D.-\u7814\u7a76\u8bbe\u8ba1\u548c\u4f26\u7406\u8ba4\u53ef;H.W.\u2013\u7814\u7a76\u8bbe\u8ba1\u3001\u9053\u5fb7\u8ba4\u53ef\u3001\u8d44\u52a9\u7ba1\u7406\u548c\u7f16\u8f91;S.H.\u2013\u6570\u636e\u5206\u6790\u548c\u5173\u952e\u8bc4\u4f30;P.S.-\u7814\u7a76\u8bbe\u8ba1\u548c\u6279\u8bc4\u8bc4\u4ef7;N.V.M.-\u76d1\u7763\u548c\u6279\u5224\u6027\u8bc4\u4ef7;S.Q.\u2013\u6279\u5224\u6027\u8bc4\u4f30;A.C.-\u7814\u7a76\u8bbe\u8ba1\u3001\u76d1\u7763\u548c\u6279\u5224\u8bc4\u4ef7;S.A.-\u7814\u7a76\u8bbe\u8ba1\uff0c\u76d1\u7763\uff0c\u6279\u5224\u6027\u8bc4\u4f30\uff0c\u6570\u636e\u5206\u6790\uff0c\u5199\u4f5c\u548c\u7f16\u8f91\u3002\u6240\u6709\u4f5c\u8005\u9605\u8bfb\u624b\u7a3f\u5e76\u540c\u610f\u53d1\u5e03\u7248\u672c\u7684\u624b\u7a3f\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%8F%90%E4%BE%9B%E8%B5%84%E9%87%91\"><\/span><strong>\u63d0\u4f9b\u8d44\u91d1<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>\u8fd9\u9879\u7814\u7a76\u7531\u6258\u7c73\u7684\u6148\u5584\u673a\u6784\u8d44\u52a9,\u8be5\u673a\u6784\u5411\u6258\u7c73\u7684\u56fd\u5bb6\u6d41\u4ea7\u7814\u7a76\u4e2d\u5fc3\u63d0\u4f9b\u8d44\u91d1\u3002<\/p>\n\n\n\n<h4 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><\/h4>\n\n\n\n<p>\u4f5c\u8005\u611f\u8c22LievePage-Christians, Philippa Burns, Patrizia Di Pietro, Cosmin Deciu, Sarah Kinnings, Eoin Brown, Victoria Corey, Kathryn Robinson, Sven Schaffer, Sucheta Bhatt, Barbara Baggiany, Matt Smith, Marion Burdin, Jasmin Dehnhardt\u3002\u4f5c\u8005\u611f\u8c22\u4f2f\u660e\u7ff0\u5987\u5973\u513f\u7ae5\u533b\u9662\u6258\u7c73\u56fd\u5bb6\u6d41\u4ea7\u7814\u7a76\u4e2d\u5fc3\u548c\u5927\u5b66\u533b\u9662\u8003\u6587\u5782\u4e0e\u6c83\u91cc\u514b\u90e1\u7684\u7814\u7a76\u56e2\u961f\u62db\u52df\u60a3\u8005\u5e76\u6536\u96c6\u6837\u672c\u3002<\/p>\n\n\n\n<h4 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><\/h4>\n\n\n\n<p>\u4f5c\u8005\u6ca1\u6709\u5ba3\u5e03\u5229\u76ca\u51b2\u7a81\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E8%B5%84%E6%96%99\"><\/span><strong>\u53c2\u8003\u8d44\u6599<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading hidden-heading\"><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Roberts, C.; Lowe, C. Where have all the conceptions gone? Lancet 1975, 305, 498-499. [CrossRef] <\/li>\n\n\n\n<li>Macklon, N.S.; Geraedts, J.P.M.; Fauser, B.C.J.M. Conception to ongoing pregnancy: The \u2018black box\u2019 of early pregnancy loss. Hum. Reprod. Updat. 2002, 8, 333-343. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Choi, T.Y.; Lee, H.M.; Park, W.K.; Jeong, S.Y.; Moon, H.S. Spontaneous abortion and recurrent miscarriage: A comparison of cytogenetic diagnosis in 250 cases. Obstet. Gynecol. Sci. 2014, 57, 518-525. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Regan, L.; Backos, M.; Rai, R. The Investigation and Treatment of Couples with Recurrent First-Trimester and Second-Trimester Miscarriage; RCOG Green-top Guideline No.17; Royal College of Obstetricians and Gynaecologists: London, UK, 2011. <\/li>\n\n\n\n<li>Lo, Y.M.D.; Corbetta, N.; Chamberlain, P.F.; Rai, V.; Sargent, I.L.; Redman, C.W.; Wainscoat, J.S. Presence of fetal DNA in maternal plasma and serum. Lancet 1997, 350, 485-487. [CrossRef] <\/li>\n\n\n\n<li>Clark-Ganheart, C.A.; Fries, M.H.; Leifheit, K.M.; Jensen, T.J.; Moreno-Ruiz, N.L.; Ye, P.P.; Jennings, J.M.; Driggers, R.W. Use of Cell-Free DNA in the Investigation of Intrauterine Fetal Demise and Miscarriage. Obstet. Gynecol. 2015, 125, 1321-1329. [CrossRef] <\/li>\n\n\n\n<li>Yaron, Y.; Pauta, M.; Badenas, C.; Soler, A.; Borobio, V.; Illanes, C.; Paz-Y-Mi, F.; Martinez-Portilla, R.; Borrell, A. Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup. Hum. Reprod. 2020, 35, 1222-1229. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Pertile, M.; Flowers, N.; Vavrek, D. P1-86. Performance of a genome-wide PCR-free, paired-end sequencing-based noninvasive prenatal screening test, VeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2, in the detection of fetal chromosomal anomalies. 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[CrossRef] [PubMed] <\/li>\n<\/ol>\n\n\n\n<h4 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%89%88%E8%80%85%E6%B3%A8%E9%87%8A\"><\/span><strong>\u51fa\u7248\u8005\u6ce8\u91ca<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h4>\n\n\n\n<p>MDPI\u5bf9\u516c\u5171\u5730\u56fe\u548c\u673a\u6784\u6240\u5c5e\u673a\u6784\u7684\u7ba1\u8f96\u6743\u58f0\u660e\u4fdd\u6301\u4e2d\u7acb\u3002<\/p>\n\n\n\n<div class=\"cc\">\n    <figure><img decoding=\"async\" src=\"\/nipt\/wp-content\/themes\/hiro_nipt\/img\/cc_by.png\" alt=\"CC By\"><\/figure>\n    <p>\u00a9 2020 by the authors. Licensee MDPI, Basel, Switzerland. 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