{"id":46219,"date":"2020-12-08T14:09:53","date_gmt":"2020-12-08T05:09:53","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/"},"modified":"2025-08-11T11:56:23","modified_gmt":"2025-08-11T02:56:23","slug":"strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?lang=zh-hans","title":{"rendered":"\u5173\u4e8e\u4f7f\u7528\u5168\u57fa\u56e0\u7ec4\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5\u6cbb\u7597\u7f55\u89c1\u5e38\u67d3\u8272\u4f53\u5f02\u5e38\u548c\u4e0d\u5e73\u8861\u7ed3\u6784\u67d3\u8272\u4f53\u5f02\u5e38\u7684\u62a5\u544a"},"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>Pascale Kleinfinger<sup>1,* <\/sup>, Laurence Lohmann<sup>1<\/sup>, Armelle Luscan<sup>1<\/sup>, Detlef Trost<sup>1<\/sup>, Laurent Bidat<sup>2<\/sup>, V\u00e9ronique Debarge<sup>3<\/sup>, Vanina Castaigne<sup>4<\/sup>, Marie-Victoire Senat<sup>5,6<\/sup>, Marie-Pierre Brechard<sup>7<\/sup>, Lucie Guilbaud<sup>8<\/sup>, Gwena\u00ebl Le Guyader<sup>9<\/sup>, V\u00e9ronique Satre<sup>10,11<\/sup>, H\u00e9l\u00e8ne Laurichesse Delmas<sup>12<\/sup>, Hakima Lallaoui<sup>13<\/sup>, Marie-Christine Manca-Pellissier<sup>14<\/sup>, Aicha Boughalem<sup>1<\/sup>,  ylene Valduga<sup>1<\/sup>, Farah Hodeib<sup>1<\/sup>, Alexandra Benachi<sup>5,15<\/sup> and Jean Marc Costa<sup>1<\/sup><\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u5b9e\u9a8c\u5ba4 CERBA, 7\/11 Rue de l\u2019Equerre, 95310 Saint-Ouen-l\u2019Aumone, France;&#8217;Aumone, France;<\/li>\n\n\n\n<li>llohmann@lab-cerba.com (L.L.); armelle.luscan@lab-cerba.com (A.L.); dtrost@lab-cerba.com (D.T.); Aicha.Boughalem@lab-cerba.com (A.B.); Mylene.Valduga@lab-cerba.com (M.V.); Farah.Hodeib@lab-cerba.com (F.H.); jmcosta@lab-cerba.com (J.M.C.)       <\/li>\n\n\n\n<li>\u5987\u79d1\uff0c\u6cd5\u56fd\u675c\u6c83\u65af\u4e2d\u5fc3\u533b\u9662\uff0c\u6cd5\u56fd\u6234\u5c1495300\u5e9e\u6258\u65af\uff0c\u6cd5\u56fdlbidat@wanadoo.fr\u5987\u79d1\uff0c CHU\u91cc\u52d2\uff0c 2\u963f\u5e03\u5965\u65af\u5361\u62c9\u5e03\u96f7\u7279\uff0c 59000\u91cc\u52d2\uff0c\u6cd5\u56fd\uff0c veronique.debarge@chru-lille.fr\u6cd5\u56fd\u514b\u96f7\u8482\u5c14\u5e02(\u7b2c40\u6761\u3001\u7b2c0940\u6761)\u548cVanina.Castaigne@chicreteil.fr\u5df4\u9ece\u5927\u5b66\u533b\u5b66\u9662\uff0c 63 Rue Gabriel Peri, 94270 LeKremlin-Bicetre, France;marie-victoire.senat@aphp.fr (M.-V.S.);alexandra.benachi@aphp.fr (A.B.)\u5987\u79d1-Obstetrique, Hopital Bicetre, 78 Rue du General Leclerc, 94270 LeKremlin-Bicetre, France <\/li>\n\n\n\n<li>\u7ec6\u80de\u9057\u4f20\u5b66\uff0c\u5723\u7ea6\u745f\u592b\u533b\u9662\uff0c\u5e03\u5c14\u5df4\u5fb7\u00b7\u9c81\u6587\uff0c 13008\u5e74\u9a6c\u8d5b\uff0c\u6cd5\u56fd\uff0c 26\u5c81\uff0c mbrechard@hopital-saint-joseph.fr       <\/li>\n\n\n\n<li>\u7f8e\u5fb7\u4fe1\u80ce\u513f\u670d\u52a1\u516c\u53f8\uff0c\u5723\u66fc\u5fb7\u6258\u7d22\u533b\u9662,\u7d22\u90a6\u5927\u5b66\u6258\u7d22\u533b\u9662,\u6cd5\u56fd\u5df4\u9ece,75012\u5df4\u9ece,\u963f\u8bfa\u5fb7\u535a\u58eb,26\u8857,lucie.guilbaud@gmail.com       <\/li>\n\n\n\n<li>\u901a\u7528\u533b\u7597\uff0c CHU de Poitiers, 2 rue de la Miletrie, CEDEX, CS 90577, 86021 Poitiers, France;gwenael.leguyader@chu-poitiers.fr      <\/li>\n\n\n\n<li>\u9057\u4f20\u67d3\u8272\u4f53\uff0c\u53e4\u8bfa\u6bd4\u6c0f\uff0c\u963f\u7ef4\u52aa\u00b7\u9a6c\u594e\u65af\uff0c 38700\u5e74\u6cd5\u56fd;vsatre@chu-grenoble.fr       <\/li>\n\n\n\n<li>INSERM U 1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Univ.\u6cd5\u56fd\uff0c 38700 La Tronsh, Greenoble Alpes, Avenue McCis de Gresiboudan, Greenoble Alpes       <\/li>\n\n\n\n<li>\u5987\u4ea7\u79d1\u533b\u751f\uff0c CHU Clermont Ferrand, and Place Lucie et Raymond Aubrac, 63003 Clermont Ferrand, France;helaurichesse@chu-clermontferrand.fr       <\/li>\n\n\n\n<li>Cylab, 6 Rue des sports BP 60348, CEDEX 1, 17001 La Rochelle, France; hlallaoui@cylab.fr       <\/li>\n\n\n\n<li>\u4ea7\u524d\u8bca\u65ad\u4e2d\u5fc3\uff0c Timone\u533b\u9662\uff0c 264 RueSaint-Pierre, 13005 Marseille, France;manca-pellissier@ap-hm.fr      <\/li>\n\n\n\n<li>\u5987\u4ea7\u79d1-Obstetrique, Hopital Antoine Beclere,AP-HP,157Ruede la Porte de Trivaux, 92140 Clamart, France       <\/li>\n<\/ol>\n\n\n\n<p>* Correspondence: PKleinfnger@lab-cerba.com; Tel.: +33-1-34-40-20-78 <\/p>\n\n\n\n<p>Received: 8 July 2020; Accepted: 28 July 2020; Published: 1 August 2020 <\/p>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .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\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?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\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?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\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?lang=zh-hans\/#1_%E7%AE%80%E4%BB%8B\" >1. \u7b80\u4ecb<\/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\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?lang=zh-hans\/#2_%E5%AE%9E%E9%AA%8C%E9%83%A8\" >2. \u5b9e\u9a8c\u90e8<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?lang=zh-hans\/#3%E7%BB%93%E6%9E%9C\" >3.\u7ed3\u679c<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?lang=zh-hans\/#4_%E8%80%83%E5%AF%9F\" >4. \u8003\u5bdf<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?lang=zh-hans\/#5_%E7%BB%93%E8%AE%BA\" >5. \u7ed3\u8bba<\/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\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?lang=zh-hans\/#%E8%A1%A5%E5%85%85%E8%B5%84%E6%96%99\" >\u8865\u5145\u8d44\u6599<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?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-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?lang=zh-hans\/#%E7%AD%B9%E9%9B%86%E8%B5%84%E9%87%91\" >\u7b79\u96c6\u8d44\u91d1:<\/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\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?lang=zh-hans\/#%E8%87%B4%E8%B0%A2\" >\u81f4\u8c22:<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?lang=zh-hans\/#%E7%A1%AE%E8%AE%A4%E5%88%A9%E7%9B%8A%E5%85%B3%E7%B3%BB\" >\u786e\u8ba4\u5229\u76ca\u5173\u7cfb:<\/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\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?lang=zh-hans\/#%E5%8F%82%E8%80%83%E8%B5%84%E6%96%99\" >\u53c2\u8003\u8d44\u6599<\/a><\/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>\u975e\u5178\u578b\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\u6bd4\u4ee5\u524d\u6240\u77e5\u66f4\u5e38\u89c1,\u53ef\u4ee5\u53d1\u80b2\u76f4\u80a0\u80ce\u513f\u3002\u4e3a\u4e86\u68c0\u6d4b\u8fd9\u4e9b\u975e\u5178\u578b\u67d3\u8272\u4f53\u5f02\u5e38 (ACA) ,\u672c\u6587\u63d0\u51fa\u4e86\u5168\u57fa\u56e0\u7ec4\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>) \u7684\u7b5b\u9009\u7b56\u7565\u3002\u5bf9\u4e24\u4e2a\u6837\u672c\u8fdb\u884c\u4e86\u68c0\u67e5\u3002\u901a\u8fc7\u4f7f\u7528\u5177\u6709ACA\u7684192\u4e2a\u751f\u7269\u5e93\u8840\u6d46\u6837\u54c1\u3001\u5177\u6709ACA\u768442\u548c\u4e0d\u5177\u6709ACA\u7684150\u7ec4\u6210\u7684\u7fa4\u7ec4A\u6765\u6d4b\u91cf\u5206\u6790\u6027\u80fd\u3002\u4f7f\u7528\u5e38\u89c4NIPT\u63a8\u8350\u76843097\u540d\u5b55\u5987\u7ec4\u6210\u5c0f\u7ec4B\u786e\u5b9a\u9644\u52a0\u4fb5\u5165\u6027\u8bca\u65ad\u7a0b\u5e8f\u7684\u6bd4\u4f8b\u3002\u5728A\u7ec4\u7684192\u4e2a\u6837\u672c\u4e2d\uff0c\u67094\u4e2a\u521d\u59cb\u6d4b\u8bd5\u5931\u8d25\u548c6\u4e2a\u4e0d\u5339\u914d\u8c03\u7528,\u603b\u4f53\u7075\u654f\u5ea6\u4e3a88.1% (37\/42);CI 75.00~94.81) \uff0c\u7279\u5f02\u602799.3% (145\/146);CI 96.22~99.88) \u3002\u5728B\u7ec4\u4e2d\uff0c\u89c2\u5bdf\u523090\u4e2a\u7a81\u53d1\u6545\u969c (2.9%) \u3002\u5f53\u663e\u7740\u4e0d\u5e73\u8861\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u548c\u4e09\u4f53\u60278\u30019\u300112\u300114\u300115\u300116\u548c22\u65f6,\u663e\u793a\u5f02\u5e38\u9633\u6027\u7ed3\u679c\u7684\u6bd4\u4f8b\u4e3a1.2% (36\/3007) \u548c0.57% (17\/3007) \u3002\u8fd9\u4e9b\u7ed3\u679c\u8868\u660e\uff0c\u5168\u57fa\u56e0\u7ec4NIPT\u53ef\u901a\u8fc7\u5c06\u7b5b\u9009\u9650\u5236\u5728\u7ed3\u6784\u5f02\u5e38\u548c\u6700\u6709\u4e34\u5e8a\u610f\u4e49\u7684\u4e09\u4f53\u4e0a\u800c\u7b5b\u9009ACA,\u8fd9\u662f\u7531\u4e8e\u53ef\u63a5\u53d7\u7684\u654f\u611f\u6027\u548c\u4fb5\u5165\u6027\u6d4b\u8bd5\u7684\u8f7b\u5fae\u589e\u52a0\uff0c\u5c24\u5176\u662f\u5728\u6bcd\u4f53\u8840\u6e05\u7b5b\u9009\u4e4b\u540e\uff0c\u98ce\u9669\u589e\u52a0\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>\u65e0\u521b\u4ea7\u524d\u68c0\u67e5;\u5168\u57fa\u56e0\u7ec4\u7b5b\u9009\u7b56\u7565;\u975e\u5178\u578b\u67d3\u8272\u4f53\u5f02\u5e38;\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027;\u7ed3\u6784\u6027\u5931\u8861;\u7f3a\u5931;\u91cd\u590d;\u7075\u654f\u5ea6;\u7279\u5f02\u6027;\u9633\u6027\u9884\u6d4b\u503c;VeriSeqTM NIPT\u89e3\u51b3\u65b9\u6848v2<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E7%AE%80%E4%BB%8B\"><\/span>1. <strong>\u7b80\u4ecb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6709\u4e9b\u6d4b\u8bd5\u53ef\u7528\u4e8e\u7b5b\u67e5\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u6700\u5e38\u89c1\u7684\u662f\u4f20\u7edf\u7684\u7b2c\u4e00\u9636\u6bb5\u6216\u7b2c\u4e8c\u9636\u6bb5\u6bcd\u4f53\u8840\u6e05\u7b5b\u67e5 (MSS) \uff0c\u8be5\u7b5b\u67e5\u901a\u5e38\u7528\u4e8e\u7b5b\u67e5\u5e38\u89c1\u7684\u80ce\u513f\u975e\u6574\u500d\u4f53\u5f02\u5e38 (\u4e09\u4f53\u602721\u300118\u300113) ,\u5e76\u63d0\u4f9b\u98ce\u9669\u8bc4\u5206\u4ee5\u786e\u5b9a\u662f\u5426\u9700\u8981\u8fdb\u4e00\u6b65\u68c0\u67e5\u3002\u975e\u5178\u578b\u67d3\u8272\u4f53\u5f02\u5e38 (ACA) \u6216\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u5f02\u5e38 (RAA) \u548c\u7ed3\u6784\u5931\u8861 (SUA) \u7684\u98ce\u9669\u6839\u636eMSS\u98ce\u9669\u8bc4\u5206\u800c\u589e\u52a0 [1 -3] \u3002\u5728\u6000\u5b5511\u5468\u81f313\u5468\u671f\u95f4\u8fdb\u884c\u7684\u5305\u62ec\u7ecf\u5c3f\u9053\u900f\u660e\u5ea6\u7684\u8d85\u58f0\u6ce2\u68c0\u67e5\u53ef\u4ee5\u53d1\u73b0\u4e00\u4e9b\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u6700\u8fd1\uff0c\u65e0\u521b\u4ea7\u524d\u68c0\u67e5 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>) \u5df2\u7ecf\u4e0a\u5e02\u3002NIPT\u901a\u5e38\u53ef\u4ee5\u5728\u6000\u5b5510\u5468\u540e\u7684\u4efb\u4f55\u9636\u6bb5\u8fdb\u884c,\u4ee5\u786e\u4fdd\u6bcd\u4f53\u8840\u6db2\u6837\u54c1\u4e2d\u6709\u8db3\u591f\u7684\u80ce\u513f\u6210\u5206 (FF) [4] \u3002NIPT\u901a\u5e38\u7528\u4e8e\u7b5b\u67e5\u5e38\u89c1\u7684\u4e09\u4f53\u6027\u3002\u4f7f\u7528\u5168\u57fa\u56e0\u7ec4\u6d4b\u5e8f (WGS) \u548c\u5206\u6790\u7684NIPT\u6d4b\u5b9a\u4e5f\u53ef\u4ee5\u8fdb\u884cACA\u7684\u5168\u57fa\u56e0\u7ec4\u7b5b\u9009 [5,6] \u3002\u4fb5\u5165\u6027\u64cd\u4f5c\uff0c\u5982\u7ed2\u6bdb\u819c\u7ed2\u6bdb\u819c\u53d6\u6837 (CVS) \u548c\u7f8a\u819c\u7a7f\u523a\u672f\uff0c\u7528\u4e8e\u80ce\u513f\u6838\u578b\u548c\u5fae\u9635\u5217\uff0c\u88ab\u8ba4\u4e3a\u5177\u6709\u8bca\u65ad\u610f\u4e49\uff0c\u4f46\u6d41\u4ea7\u7684\u98ce\u9669\u5f88\u5c0f [7,8] \uff0c\u53ef\u80fd\u5b58\u5728\u819c\u8fc7\u65e9\u7834\u88c2\u548c\u7ed2\u6bdb\u819c\u7f8a\u819c\u708e\u7684\u98ce\u9669 [9, 10] \u3002<\/p>\n\n\n\n<p>\u4e34\u5e8a\u7814\u7a76\u8868\u660e\uff0c NIPT\u7684\u6027\u80fd\u4f18\u4e8e\u4f20\u7edf\u7684MSS\u65b9\u6cd5 [11] \u3002NIPT\u5206\u6790\u901a\u5e38\u4f7f\u7528\u51e0\u79cd\u4e0d\u540c\u7684\u6280\u672f\uff0c\u4e3b\u8981\u662f\u5927\u89c4\u6a21\u5e76\u884cWGS [12 -14] \u3001\u6709\u9488\u5bf9\u6027\u7684\u5fae\u9635\u5217\u6df7\u5408 [15] \u548c\u57fa\u4e8eSNP\u7684\u6d4b\u5e8f [16,17] \u3002\u5927\u89c4\u6a21\u5e76\u884c\u6d4b\u5e8f\u6280\u672f\u4f7f\u7528\u5355\u7aef\u6216\u5bf9\u7aef\u6d4b\u5e8f\uff0c\u800c\u5bf9\u7aef\u6d4b\u5e8f\u53ef\u4ee5\u786e\u5b9a\u7247\u6bb5\u5927\u5c0f\u548c\u4f4d\u7f6e\u3002NIPT\u7684\u6027\u80fd\u53ef\u80fd\u56e0\u65b9\u6cd5\u800c\u5f02\uff0c\u6700\u8fd1\u7684Meta\u5206\u6790 [20] \u62a5\u544aNIPT\u7684\u5931\u8d25\u7387\u57280.1%~6.3%\u4e4b\u95f4 [21-23] \u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u6765\uff0c\u68c0\u67e5\u9009\u9879\u5305\u62ec\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53 [24,25] \u3001\u9009\u62e9\u6027\u5fae\u7f3a\u5931\/\u91cd\u590d [26,27] \u548cACA [5,6,28] \u3002\u867d\u7136ACA\u66f4\u4e3a\u7f55\u89c1\uff0c\u4f46NIPT\u7684\u7814\u7a76\u663e\u793aSUA\u7684\u7b5b\u9633\u6027\u7387\u4e3a0.1%, RAA\u7684\u7b5b\u9633\u6027\u7387\u4e3a0.34% [29] \u3002\u5728Fiorentino\u7b49\u4eba2017\u5e74\u7684\u7814\u7a76\u4e2d [5] \uff0c\u5bf9\u5927\u89c4\u6a21\u5b55\u5987\u961f\u5217\u8fdb\u884c\u5168\u57fa\u56e0\u7ec4\u65e0\u7ec6\u80deDNA\u5206\u6790,\u786e\u5b9a\u4e86\u4f20\u7edfNIPT\u65e0\u6cd5\u68c0\u6d4b\u5230\u7684\u4e34\u5e8a\u76f8\u5173\u5931\u8861,\u540c\u65f6\u4fdd\u6301\u9ad8\u7279\u5f02\u6027\u3002\u5728Pescia\u7b49\u4eba\u7684\u7814\u7a76 [30] \u4e2d\uff0c\u5168\u57fa\u56e0\u7ec4NIPT\u7b5b\u67e5\u7684\u4f7f\u7528\u5bfc\u81f4\u80ce\u513f\u5f02\u5e38\u68c0\u51fa\u589e\u52a0,\u5e76\u4e14\u8be5\u7b5b\u67e5\u4e2d\u9274\u5b9a\u7684\u7f55\u89c1\u5e38\u67d3\u8272\u4f53\u4e09\u4f53\u6027\u548cCNV\u4e5f\u662f\u80ce\u513f\u75c5\u7406\u7684\u91cd\u8981\u539f\u56e0\u3002\u5728\u6cd5\u56fd\uff0c\u8fd9\u4e9bACA\u5360\u6240\u6709\u4ea7\u524d\u4e0d\u5e73\u8861\u67d3\u8272\u4f53\u5f02\u5e38\u768412.25%\u548c\u6240\u6709\u4ea7\u524d\u6838\u578b\u76842.5% [31] \u3002\u8fd9\u4e9bACA\u5df2\u88ab\u8bc1\u660e\u4e0e\u9884\u540e\u4e0d\u826f\u6709\u5173\uff0c\u4f8b\u5982\u6d41\u4ea7\uff0c\u80ce\u513f\u5bab\u5185\u6b7b\u4ea1,\u667a\u529b\u53d1\u80b2\u969c\u788d,\u7578\u5f62\u7efc\u5408\u75c7 [29,32-35] \u3002<\/p>\n\n\n\n<p>\u5728\u6cd5\u56fd\uff0c NIPT\u4ec5\u7528\u4e8e\u4e09\u4f53\u602721\u7b5b\u67e5\u3002NIPT\u662fMSS\u4e4b\u540e\u7684\u7b2c\u4e8c\u5c42\u7b5b\u67e5\uff0c\u5176\u4e2dMSS\u98ce\u9669\u8bc4\u5206\u57281\/51~1\/1000\u4e4b\u95f4,\u4e5f\u662f\u591a\u80ce\u598a\u5a20\u5987\u5973\u7684\u7b2c\u4e00\u5c42\u7b5b\u67e5,\u5148\u524d\u6709\u8fc7\u6000\u5b55\u53f2,\u66fe\u7ecf\u53d7\u8fc721\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c7\u7684\u5f71\u54cd,\u6216\u8005\u5df2\u77e5\u6709\u7f57\u4f2f\u900a\u6613\u4f4d\u643a\u5e26\u8005\u7684\u7236\u6bcd\u4e4b\u4e00\u6d89\u53ca21\u53f7\u67d3\u8272\u4f53\u3002\u5982\u679c\u8d85\u58f0\u6ce2\u68c0\u67e5\u5f02\u5e38\u6216MSS\u98ce\u9669\u8bc4\u5206\u9ad8\u4e8e1\/50,\u5219\u5efa\u8bae\u8fdb\u884c\u8bca\u65ad\u6027\u68c0\u67e5\u3002<\/p>\n\n\n\n<p>\u672c\u7814\u7a76\u7684\u76ee\u7684\u662f: (1) \u901a\u8fc7VeriSeqTM NIPT\u89e3\u51b3\u65b9\u6848v2\u68c0\u6d4bACA\u6765\u786e\u5b9a\u5168\u57fa\u56e0\u7ec4\u65e0\u7ec6\u80deDNA\u5206\u6790\u7684\u6027\u80fd\uff0c\u4ee5\u53ca (2) \u786e\u5b9aACA\u5168\u57fa\u56e0\u7ec4NIPT\u7b5b\u9009\u7684\u7b56\u7565\u3002\u672c\u7814\u7a76\u53d1\u73b0,\u8be5\u5168\u57fa\u56e0\u7ec4NIPT\u6d4b\u5b9a\u5728\u68c0\u6d4b\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u548c\u5927\u4e8e7Mb\u7684\u7247\u6bb5\u975e\u6574\u500d\u4f53\u65b9\u9762\u5177\u6709\u5f88\u9ad8\u7684\u51c6\u786e\u6027,\u5e76\u53ef\u6700\u5927\u9650\u5ea6\u5730\u51cf\u5c11\u989d\u5916\u660e\u786e\u4fb5\u5165\u6027\u6d4b\u8bd5\u7684\u589e\u52a0\u3002\u8fd8\u63d0\u51fa\u4e86\u5c06\u5168\u57fa\u56e0\u7ec4\u7b5b\u9009\u9650\u5236\u5728\u6700\u91cd\u8981\u7684\u67d3\u8272\u4f53\u4e09\u4f53\u548cSUA,\u5e76\u5728\u6bcd\u4f53\u8840\u6e05\u7b5b\u9009\u540e\u5411\u9ad8\u98ce\u9669\u5973\u6027\u63d0\u4f9b\u7684\u65b9\u6848\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E5%AE%9E%E9%AA%8C%E9%83%A8\"><\/span>2. <strong>\u5b9e\u9a8c\u90e8<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8be5\u7814\u7a76\u5305\u62ec\u4e24\u4e2a\u7814\u7a76\u961f\u5217\u3002A\u7ec4\u7531\u6536\u96c6\u7684\u8840\u6db2\u6837\u54c1\u7684\u751f\u7269\u5e93\u7ec4\u6210,\u4ee5\u786e\u5b9a\u5168\u57fa\u56e0\u7ec4NIPT\u6d4b\u5b9a\u7684\u7075\u654f\u5ea6\u548c\u7279\u5f02\u6027\u3002\u57282014\u5e74\u81f32019\u5e74\u671f\u95f4\uff0c\u4ece\u63a5\u53d7\u4fb5\u5165\u6027\u624b\u672f\u7684\u60a3\u8005\u4e2d\u6536\u96c6\u5f02\u5e38\u6837\u672c\uff0c\u8be5\u60a3\u8005\u901a\u8fc7\u6838\u578b\u6216\u5fae\u9635\u5217 (CMA) \u663e\u793a\u9664\u4e00\u822c\u7684\u4e09\u4f53\u6027 (\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c721\u300118\u300113) \u6216\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u4e4b\u5916\u7684\u5f02\u5e38 (\u8865\u5145\u8868S1) \u3002\u6240\u6709\u67d3\u8272\u4f53\/\u5fae\u9635\u5217\u5f02\u5e38\u7684\u60a3\u8005\u5728\u4e0d\u9009\u62e9\u5f02\u5e38\u7c7b\u578b\u3001\u4fb5\u5165\u6027\u6cbb\u7597\u7684\u9002\u5e94\u75c7\u6216\u57fa\u4e8e\u6000\u5b55\u5e74\u9f84\u7684\u60c5\u51b5\u4e0b\u63d0\u51fa\u53c2\u4e0e\u7814\u7a76\u3002\u8be5\u7ec4\u4ee3\u8868\u672a\u4ece\u6211\u4eec\u5728\u7ec6\u80de\u9057\u4f20\u5b66\u5b9e\u9a8c\u5ba4\u9047\u5230\u7684\u67d3\u8272\u4f53\u5f02\u5e38\u4e2d\u9009\u62e9\u7684\u7ec4\u3002A\u7ec4\u7684\u5bf9\u7167NIPT\u6837\u54c1\u7531\u57282019\u5e744\u6708\u81f37\u6708\u6536\u96c6\u7684\u7b2c\u4e00\u4e2a\u975e\u9009\u62e9\u6027148\u4e2a\u6837\u54c1\u7ec4\u6210,\u5176\u5177\u6709\u9664\u4e86\u5e38\u89c1\u4e09\u4f53\u6027\u6216\u6027\u67d3\u8272\u4f53\u975e\u6574\u500d\u6027\u4e4b\u5916\u6ca1\u6709\u5f02\u5e38\u7684\u6838\u578b\/\u5fae\u9635\u5217\u7ed3\u679c\u3002\u5728\u4fb5\u5165\u6027\u624b\u672f\u7684\u540c\u65f6\u6536\u96c6NIPT\u6837\u54c1\u3002\u5728\u6838\u578b\u7ed3\u679c\u540e\u6536\u96c6\u4e24\u4e2a\u8865\u5145\u7684NIPT\u6837\u54c1\uff0c\u56e0\u4e3a\u7f8a\u6c34\u7684\u6838\u578b\u6b63\u5e38\u5e76\u4e14\u88ab\u8bca\u65ad\u4e3a\u80ce\u76d8 (\u7ed2\u6bdb\u82bd\u7ec6\u80de) \u5c40\u90e8\u5d4c\u5408\u4f53\u3002<\/p>\n\n\n\n<p>\u961f\u5217B\u4e5f\u79f0\u4e3a\u300c\u4ecb\u7ecd\u4eba\u7fa4\u4f53\u300d ,\u5176\u76ee\u7684\u662f\u786e\u5b9a\u4f7f\u7528\u5168\u57fa\u56e0\u7ec4NIPT\u540e\u53ef\u80fd\u8fdb\u884c\u989d\u5916\u4fb5\u5165\u6027\u8bca\u65ad\u64cd\u4f5c\u7684\u767e\u5206\u6bd4\u3002\u8fd9\u4e9b\u6837\u672c\u6765\u81ea\u63a5\u53d7\u5e38\u89c4NIPT\u68c0\u67e5\u7684\u60a3\u8005,\u4f5c\u4e3a\u5b9e\u9a8c\u5ba4\u68c0\u67e5\u7684\u4e00\u90e8\u5206\u3002\u7136\u540e\u5bf9\u8be5\u7814\u7a76\u8fdb\u884c\u4e86\u5168\u57fa\u56e0\u7ec4NIPT\u5206\u6790\u3002\u7531\u4e8e\u60a3\u8005\u53ea\u540c\u610f\u8fdb\u884c\u975e\u5e72\u9884\u7814\u7a76\uff0c\u56e0\u6b64\u6ca1\u6709\u62a5\u544a\u5168\u57fa\u56e0\u7ec4\u5206\u6790\u7ed3\u679c\uff0c\u5e76\u4e14\u6ca1\u6709\u4e0e\u60a3\u8005\u8054\u7cfb\u4ee5\u83b7\u5f97\u6709\u5173\u80ce\u513f\u6838\u578b\u548c\u4e34\u5e8a\u7ed3\u679c\u7684\u8fdb\u4e00\u6b65\u8ffd\u8e2a\u4fe1\u606f\u3002\u8fd9\u4e9b\u6837\u54c1\u662f\u57282019\u5e743\u6708\u81f38\u6708\u95f4\u6536\u96c6\u7684\u3002\u4e24\u4e2a\u961f\u5217\u4e2d\u7684\u6240\u6709\u6837\u672c\u5747\u4e3a\u5355\u80ce\u6000\u5b55\u3002<\/p>\n\n\n\n<p>\u5bf9\u4e8eA\u7ec4\uff0c\u4f7f\u7528\u6807\u51c6\u6280\u672f\u8fdb\u884c\u6838\u578b:\u539f\u4f4d\u57f9\u517b (Amniomax \u00ae) \u6216\u80f0\u86cb\u767d\u9176\u57f9\u517b(\u5982\u679c\u662f\u7f8a\u6c34\uff0c\u5219\u4e3aAmniomedium2 \u00ae;\u5982\u679c\u662ftrophoblastic\u57f9\u517b\uff0c\u5219\u4e3aAmniomax \u00ae)\uff0c\u4f4e\u6e17\u4f11\u514b (Hanks \u00ae\u548cMgCl 2) \uff0c\u4e59\u9178\/\u7532\u9187\u56fa\u5b9a\u548cRHG\u6761\u5e26\u3002\u5206\u6790\u4e862\u79cd\u57f9\u517b\u7269\u4e2d\u7684\u81f3\u5c1115\u4e2a\u95f4\u8d28\u9762\u3002\u5fae\u9635\u5217\u6839\u636eAffymetrix\u7684\u534f\u8bae\u4f7f\u7528\u5168\u57fa\u56e0\u7ec4\u9635\u5217Cytoscan \u00ae 750 K (SNP Affymetrix, 750 K\u6807\u8bb0\u7269)\u8fdb\u884c\u3002<\/p>\n\n\n\n<p>\u5bf9\u6240\u6709\u6837\u54c1\u8fdb\u884c\u5e26\u6709CE-IVD\u6807\u8bb0\u7684VeriSeqTM <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solutionv2\u6d4b\u5b9a (Illumina, Inc.) \u8be5\u6d4b\u5b9a\u4f7f\u7528\u65e0PCR\u7684\u914d\u5bf9\u672b\u7aefWGS\u65b9\u6cd5\u6765\u68c0\u6d4b\u6574\u4e2a\u57fa\u56e0\u7ec4\u7684\u5f02\u5e38\u3002\u7b80\u800c\u8a00\u4e4b\uff0c\u5728\u51b7\u51bb\u6765\u81ea\u751f\u7269\u5e93\u548c\u8f6c\u4ecb\u7fa4\u4f53\u7684\u8840\u6d46\u6837\u54c1\u540e\uff0c\u89e3\u51bb\u8840\u6d46\u5e76\u8fdb\u884c\u65e0\u7ec6\u80de (cf) DNA\u63d0\u53d6\u6b65\u9aa4\u3002\u7eaf\u5316\u7684cfDNA\u7247\u6bb5\u4f7f\u7528VeriSeqTM <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Microlab STAR\u7cfb\u7edf(\u745e\u58eb\uff0c\u6c49\u5bc6\u5c14\u987f)\u8fdb\u884c\u81ea\u52a8\u5316\u6587\u5e93\u5236\u5907\uff0c\u7136\u540e\u8fdb\u884c\u5b9a\u91cf\u548c\u6587\u5e93\u6536\u96c6\u3002\u6c60\u5e93\u7531NextSeq 550 Dx\u6d4b\u5e8f\u4eea (Illumina) \u6d4b\u5e8f\u3002\u5728\u4ecb\u7ecd\u4eba\u7fa4\u4f53\u6837\u672c\u4e2d\u4f7f\u7528\u7684\u540c\u4e00\u6d41\u5f0f\u7ec6\u80de\u4e0a\u6d4b\u8bd5\u751f\u7269\u94f6\u884c\u6837\u672c,\u6bcf\u4e2a\u6d41\u52a8\u5f0f\u7ec6\u80de\u6700\u591a\u4f7f\u75284\u4e2a\u751f\u7269\u94f6\u884c\u6837\u672c\u3002\u4f7f\u7528VeriSeqTM NIPT\u89e3\u51b3\u65b9\u6848v2\u7cfb\u7edf\u670d\u52a1\u5668\u8fdb\u884c\u751f\u7269\u4fe1\u606f\u5b66\u5206\u6790\uff0c\u5e76\u4e14\u5c06\u6837\u672c\u5206\u7c7b\u4e3aRAA\u6216SUAs\u22657Mb\u5b58\u5728\u7684\u5f02\u5e38\u68c0\u6d4b\u6216\u672a\u5f02\u5e38\u68c0\u6d4b\u3002\u5206\u6790\u8f6f\u4ef6\u4f7f\u7528\u52a8\u6001\u9608\u503c\u5ea6\u91cf\uff0c\u79f0\u4e3a\u4e2a\u6027\u5316\u80ce\u513f\u52aa\u529b\u53ef\u9760\u6027\u6d4b\u9a8c (iFACT) \uff0c\u8003\u8651\u80ce\u513f\u5206\u6570\u548c\u8986\u76d6\u4fe1\u606f\u4ee5\u786e\u5b9a\u662f\u5426\u53ef\u4ee5\u8fdb\u884c\u8c03\u7528,\u5e76\u5141\u8bb8\u5728\u4f4e\u80ce\u513f\u5206\u6570\u4e0a\u8fdb\u884c\u7cbe\u786e\u8c03\u7528\u3002<\/p>\n\n\n\n<p>\u4f7f\u7528t\u68c0\u9a8c\u6bd4\u8f83\u4e0d\u540c\u60a3\u8005\u7fa4\u4f53\u4e4b\u95f4\u7684\u80ce\u513f\u5206\u6570\u548c\u6000\u5b55\u5e74\u9f84;p\u503c&lt;0.05\u88ab\u8ba4\u4e3a\u662f\u6709\u6548\u7684\u3002\u8ba1\u7b97\u4e8c\u987995%\u7f6e\u4fe1\u533a\u95f4 (CI) \u7528\u4e8e\u6027\u80fd\u4f30\u7b97\u3002<\/p>\n\n\n\n<p>\u8be5\u7814\u7a76\u5df2\u83b7\u5f97\u201c\u4eba\u7c7b\u4fdd\u62a4\u59d4\u5458\u4f1a (\u7b2cN\u25e6PP 14\u2013007) \u201d\u7684\u6279\u51c6\u3002\u8be5\u5987\u5973\u4e66\u9762\u540c\u610f\u5176\u6837\u672c\u53ef\u80fd\u7528\u4e8e\u7814\u7a76\uff0c\u5e76\u4e14\u4e0d\u4f20\u8fbe\u8be5\u7814\u7a76\u7684\u7ed3\u679c\u3002<\/p>\n\n\n\n<h2 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><\/h2>\n\n\n\n<p>\u4f5c\u4e3a\u751f\u7269\u94f6\u884c\u6837\u54c1\u7684\u961f\u5217A\u7531\u603b\u5171192\u4e2a\u6837\u54c1\u7ec4\u6210 (\u56fe1) \u3002\u572842\u4f8b\u6000\u5b55\u4e2d,\u4fb5\u5165\u6027\u68c0\u67e5\u68c0\u6d4b\u5230RAA\u6216SUA\u22657Mb (\u8865\u5145\u8868S1) :4\u4f8bRAA (\u4f4d\u4e8e\u80ce\u76d8\u76843\u4f8b\u4e09\u4f5316 (III\u578b,\u5373\u7ec6\u80de\u6ecb\u517b\u7ec6\u80de\u548c\u95f4\u5145\u8d28\u7cfb\u7edf\u4e2d\u5747\u68c0\u6d4b\u5230) \u548c22\u4f8b\u975e\u82b1\u53f6\u67d3\u8272\u4f53\u4e09\u4f5316 (\u4f4d\u4e8e\u80ce\u76d8\u7684III\u578b,\u5373\u7ec6\u80de\u6ecb\u517b\u7ec6\u80de\u548c\u95f4\u5145\u8d28\u7cfb\u7edf\u4e2d\u5747\u53d1\u73b0III\u578b) \u548c22\u4f8b\u975e\u82b1\u53f6\u67d3\u8272\u4f53\u4e09\u4f5322) \u300132\u4f8bSUA (\u91cd\u590d\u3001\u7f3a\u5931\u3001\u6613\u4f4d\u8bf1\u5bfc\u67d3\u8272\u4f53) \u30015\u4e2a\u6807\u8bb0\u7269 (3\u4e2ai (12) (p10) \u30011\u4e2ai (18) (p10) \u548c1\u4e2a\u75c5\u7406\u8bf1\u5bfc\u67d3\u8272\u4f5315) \u548c1\u4e2aChromoanagenesis (\u4e00\u4e2a\u6216\u591a\u4e2a\u67d3\u8272\u4f53\u4f4d\u70b9\u4e0a\u7684\u591a\u4e2a\u590d\u6742\u91cd\u7ec4) [36] \u3002 \u901a\u8fc7CMA\u548c\u6838\u578b\u68c0\u67e5\u8bca\u65ad13\u4eba\uff0c\u4ec5\u901a\u8fc7CMA\u8bca\u65ad2\u4eba\uff0c\u4ec5\u901a\u8fc7\u6838\u578b\u68c0\u67e5\u8bca\u65ad27\u4eba\u3002\u6839\u636e\u7f8a\u6c34 (AF) \u8bca\u65ad19\u4f8b\uff0c\u6839\u636eCVS\u8bca\u65ad18\u4f8b\uff0c\u67095\u4f8b\u5177\u67092\u79cd\u6216\u66f4\u591a\u79cd\u53ef\u7528\u4e8e\u8bca\u65ad\u7684\u7ec4\u7ec7\u7c7b\u578b\u3002\u5176\u4ed6148\u4e2a\u6837\u672c\u88ab\u5f52\u7c7b\u4e3a\u65e0\u5f71\u54cd(\u5373RAA\u6216SUA\u22657Mb) 39\u4e2a\u6837\u672c\u5177\u6709\u5fae\u9635\u5217109\u4e2a\u6837\u672c\u5177\u6709\u6838\u578b\u3002\u5176\u4f59\u4e24\u4e2a\u6837\u672c\u663e\u793a\u5f02\u5e38\u6210\u7ec6\u80de\u7ec6\u80de\u548c\u6b63\u5e38\u80ce\u513f\u80ce\u76d8\u4e0d\u5339\u914d\u3002\u5e73\u5747\u6000\u5b55\u5e74\u9f84\u4e3a17.7\u5468 (11.0\u81f336.3\u5468) \u3002<\/p>\n\n\n\n<figure class=\"cohoto_a\">\n<svg xmlns=\"http:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 518.45 391.67\">\n\t<defs>\n\t\t<style>.cohoto_a .a{fill:#ffe79c;}\n.cohoto_a .a,\n.cohoto_a .aa,\n.cohoto_a .b,\n.cohoto_a .c{stroke:#231815;stroke-miterlimit:10;}\n.cohoto_a .a,\n.cohoto_a .b,\n.cohoto_a .c{stroke-width:0.5px;}\n.cohoto_a .b{fill:#bfefc9;}\n.cohoto_a .c{fill:#bddbff;}\n.cohoto_a .d,\n.cohoto_a .p{font-size:12px;}\n.cohoto_a .d,\n.cohoto_a .j{letter-spacing:0.02em;}\n.cohoto_a .e{letter-spacing:0.27em;}\n.cohoto_a .f{letter-spacing:0.06em;}\n.cohoto_a .g{letter-spacing:0.02em;}\n.cohoto_a .h{letter-spacing:-0.04em;}\n.cohoto_a .i{letter-spacing:0.13em;}\n.cohoto_a .k{letter-spacing:0.1em;}\n.cohoto_a .l{letter-spacing:0.07em;}\n.cohoto_a .m{letter-spacing:0.12em;}\n.cohoto_a .n{letter-spacing:-0.18em;}\n.cohoto_a .o{letter-spacing:-0.16em;}\n.cohoto_a .q{letter-spacing:0.19em;}\n.cohoto_a .v{letter-spacing:0.08em;}\n.cohoto_a .aa{fill:none;stroke-width:1.5px;}\n.cohoto_a .ab{fill:#231815;}\n<\/style>\n\t<\/defs>\n\t<rect class=\"a\" x=\"227.66\" y=\"19.13\" width=\"170.08\" height=\"48.19\" rx=\"14.17\"><\/rect>\n\t<rect class=\"a\" x=\"227.66\" y=\"115.13\" width=\"170.08\" height=\"48.19\" rx=\"14.17\"><\/rect>\n\t<rect class=\"a\" x=\"227.66\" y=\"211.13\" width=\"170.08\" height=\"48.19\" rx=\"14.17\"><\/rect>\n\t<rect class=\"a\" x=\"227.35\" y=\"306.38\" width=\"170.08\" height=\"85.04\" rx=\"14.17\"><\/rect>\n\t<rect class=\"b\" x=\"407.49\" y=\"62.43\" width=\"110.71\" height=\"44.17\" rx=\"8.87\"><\/rect>\n\t<rect class=\"c\" x=\"0.25\" y=\"0.25\" width=\"170.08\" height=\"85.04\" rx=\"14.17\"><\/rect>\n\t<text class=\"d\" transform=\"translate(16 23.72)\">\u6838\u578b:\n\t\t<tspan class=\"f\">\n\t\t\t<tspan x=\"0\" y=\"15\">-148 \u4e0d\u4f7f\u7528ACA\u7684<\/tspan>\n\t\t<\/tspan>\n\t\t<tspan class=\"k\">\n\t\t\t<tspan x=\"0\" y=\"30\">-2 \u548cCPM+<\/tspan>\n\t\t<\/tspan>\n\t\t<tspan class=\"m\">\n\t\t\t<tspan x=\"0\" y=\"45\">-42\u548c ACA<\/tspan>\n\t\t<\/tspan>\n\t<\/text>\n\t<text class=\"d\" transform=\"translate(276.26 40.13)\">\u7814\u7a76\u4eba\u7fa4\n\t\t<tspan x=\"18.57\" y=\"15\">n=192<\/tspan>\n\t<\/text>\n\t<text class=\"p\" transform=\"translate(416 81.76)\">\n\t\t<tspan class=\"q\">4\u5931\u8d25\u7684<\/tspan>\n\t\t<tspan class=\"j\">\n\t\t\t<tspan x=\"8\" y=\"15\">NIPT\u6837\u672c<\/tspan>\n\t\t<\/tspan>\n\t<\/text>\n\t<text class=\"p\" transform=\"translate(262.6 137.13)\">\n\t\t<tspan class=\"v\">\u6700\u7ec8NIPT\u961f\u5217<\/tspan>\n\t\t<tspan class=\"j\">\n\t\t\t<tspan x=\"32.26\" y=\"15\">n=188<\/tspan>\n\t\t<\/tspan>\n\t<\/text>\n\t<text class=\"d\" transform=\"translate(252.86 232.13)\">150\u4f4e\u98ce\u9669\u8c03\u7528\n\t\t<tspan x=\"-2.45\" y=\"15\">38\u9ad8\u98ce\u9669\u8c03\u7528<\/tspan>\n\t<\/text>\n\t<text class=\"d\" transform=\"translate(275.24 331.13)\">\u771f\u9634\u6027145\u4f8b\n\t\t<tspan x=\"3.43\" y=\"15\">\u771f\u9633\u602737\u4f8b<\/tspan>\n\t\t<tspan x=\"-2.61\" y=\"30\">Fales\u9634\u60275\u4f8b<\/tspan>\n\t\t<tspan x=\"6.85\" y=\"45\">\u5047\u9633\u60271\u4f8b<\/tspan>\n\t<\/text>\n\t<line class=\"aa\" x1=\"170.7\" y1=\"42.72\" x2=\"215.75\" y2=\"42.72\"><\/line>\n\t<polygon class=\"ab\" points=\"211.53 48.28 213.89 42.72 211.53 37.17 224.7 42.72 211.53 48.28\"><\/polygon>\n\t<line class=\"aa\" x1=\"312.7\" y1=\"67.72\" x2=\"312.7\" y2=\"103.77\"><\/line>\n\t<polygon class=\"ab\" points=\"307.15 99.55 312.7 101.91 318.26 99.55 312.7 112.72 307.15 99.55\"><\/polygon>\n\t<line class=\"aa\" x1=\"312.7\" y1=\"163.72\" x2=\"312.7\" y2=\"199.77\"><\/line>\n\t<polygon class=\"ab\" points=\"307.15 195.55 312.7 197.91 318.26 195.55 312.7 208.72 307.15 195.55\"><\/polygon>\n\t<line class=\"aa\" x1=\"312.7\" y1=\"259.72\" x2=\"312.7\" y2=\"295.77\"><\/line>\n\t<polygon class=\"ab\" points=\"307.15 291.55 312.7 293.91 318.26 291.55 312.7 304.72 307.15 291.55\"><\/polygon>\n\t<line class=\"aa\" x1=\"312.7\" y1=\"84.72\" x2=\"397.75\" y2=\"84.72\"><\/line>\n\t<polygon class=\"ab\" points=\"393.54 90.28 395.89 84.72 393.54 79.17 406.7 84.72 393.54 90.28\"><\/polygon>\n<\/svg>\n      <figcaption><strong>\u56fe1.<\/strong>\u751f\u7269\u94f6\u884c\u6837\u672c\u6982\u8ff0\u3002\u6d4b\u8bd5\u4eba\u7fa4,\u4e0d\u5408\u683c\u6837\u672c\u548c\u6700\u7ec8NIPT\u961f\u5217\u6982\u8ff0\u3002\u20202\u4f8b\u60a3\u8005\u6709\u5f02\u5e38\u6210\u7ec6\u80de\u7ec6\u80de\u548c\u6b63\u5e38\u80ce\u513f\u80ce\u76d8\u4e0d\u5339\u914d\u30021\u4f8b\u4e3a\u76f4\u63a5\u6210\u7ec6\u80de\u6838\u578b\u7684\u5d4c\u5408\u4f5346,XY, del (5) (p15) (7) \/46,XY (12) ,\u957f\u671f\u57f9\u517b\u548c\u7f8a\u6c34\u57f9\u517b\u7684\u5d4c\u5408\u4f5346,XY\u30022\u4f8b\u4e3a\u76f4\u63a5\u6210\u7ec6\u80de\u6838\u578b47 XY,+der (13) t (11);13) (q 12);q 34) \/46, XY, t (11;13) \u548c\u957f\u671f\u57f9\u517b\u548c\u7f8a\u6c34\u57f9\u517b46 XY, t (11);13) (q 12);q 34) <\/figcaption>\n         <\/figure>\n\n\n\n<p>\u7531\u4e8e\u6837\u672c\u7684\u9650\u5236\uff0c\u8be5\u6837\u672c\u53ea\u80fd\u8fdb\u884c\u4e00\u6b21,\u6545\u969c\u7387\u4e3a2.08%.\u3002\u8fd94\u4e2a\u5931\u8d25\u7684\u6837\u672c\u90fd\u662f\u6000\u5b55\u671f\u95f4\u80ce\u513f\u7ec6\u80de\u9057\u4f20\u5b66\u7ed3\u679c\u6b63\u5e38\u7684\u6837\u672c\u3002\u5728188\u4f8b\u4e2d\uff0c\u4f4e\u98ce\u9669\u4e3a150\u4f8b\uff0c\u9ad8\u98ce\u9669NIPT\u8c03\u7528\u4e3a38\u4f8b\u3002\u5e73\u5747FF\u4e3a11.76%\u3002\u751f\u7269\u94f6\u884c\u7fa4\u4f53\u4e2d\u6b63\u5e38\u6837\u672c\u4e0e\u5f02\u5e38\u6837\u672c\u4e4b\u95f4\u65e0\u7edf\u8ba1\u5b66\u5dee\u5f02 (p=0.52) \u3002<\/p>\n\n\n\n<p>1\u4f8b\u5047\u9633\u6027\u548c5\u4f8b\u5047\u9634\u6027\u3002\u68c0\u6d4bRAA\u548cSUAs\u22657 Mb\u7684\u7075\u654f\u5ea6\u4e3a88.1% (37\/42);CI 75.00~94.81) \uff0c\u7279\u5f02\u602799.32% (145\/146);CI 96.22~99.88) \u3002\u4e00\u4e2a\u5047\u9633\u6027\u4fe1\u53f7\u88ab\u53d1\u73b0\u662f\u7531\u4e8e\u5c40\u90e8\u80ce\u76d8\u5d4c\u5408\u4f531\u578b (CPM1,\u5373\u4ec5\u7ec6\u80de\u6ecb\u517b\u7ec6\u80de) \u3002\u6b64\u793a\u4f8b\u901a\u8fc7NIPT\u663e\u793a\u4e3adup (11) (p 11.12 q 25);\u62a5\u544a\u4e3a+13\u3002\u7ec6\u80de\u8425\u517b\u7ec6\u80de\u76f4\u63a5\u5206\u6790\u7684\u676f\u578b\u4e3a47 XY,+der (13) t (11);13) (q 12);q 34) \uff0c t (11);13) \uff0c\u800c\u95f4\u53f6\u7cfb\u957f\u671f\u57f9\u517b\u7684\u676f\u578b\u4e3a46 XY, t (11) .;13) (q 12);q 34) \u3002<\/p>\n\n\n\n<p>5\u4e2a\u5047\u9634\u6027\u7ed3\u679c\u7684\u6982\u8981\u5982\u88681\u6240\u793a;\u8fd9\u4e9b\u6837\u54c1\u7684FF\u4e3a3~15%\u3002\u6837\u54c11\u7684\u91cd\u65b0\u6392\u5217\u7f3a\u5c11\u9891\u5e264p16.3\u7684\u4e00\u90e8\u5206,\u5e76\u4e14\u5728\u9635\u5217\u4e2d\u672a\u68c0\u67e5\u5176\u5c3a\u5bf8\u3002\u8fd9\u5728550RHGBandingcalio\u7c7b\u578b (5-10Mb\u5206\u8fa8\u7387) \u662f\u53ef\u89c1\u7684,\u4f46\u662f,\u7531\u4e8e\u7f3a\u5931\u7684\u5927\u5c0f\u4f4e\u4e8e\u6b64NIPT\u5206\u6790\u68c0\u6d4b\u7684\u6700\u5c0f\u5c3a\u5bf8\u9608\u503c,\u8fd9\u53ef\u80fd\u662f\u5047\u9634\u6027NIPT\u7ed3\u679c\u7684\u4e00\u79cd\u53ef\u80fd\u89e3\u91ca\u57285\u52307Mb\u4e4b\u95f4\u3002\u5728\u6837\u672c2\u4e2d\uff0c\u5047\u9634\u6027\u7ed3\u679c\u662f\u7531\u4e8e\u6000\u7591\u7531\u7b49\u8272\u4f5312p (OMIM 601803) \u5f15\u8d77\u7684\u5d4c\u5408\u4f53,\u8fd9\u5728Pallister-Killian\u7efc\u5408\u75c7\u4e2d\u7ecf\u5e38\u51fa\u73b0\u3002\u5bf9\u4e8e\u6837\u672c3,\u67d3\u8272\u4f53\u5408\u6210\u662f\u4ea7\u751f\u5047\u9634\u6027\u7ed3\u679c\u7684\u4e3b\u8981\u539f\u56e0\u3002\u867d\u7136\u65e0\u6cd5\u5bf9\u6837\u672c4\u8fdb\u884c\u5047\u9634\u6027\u751f\u7269\u5b66\u4e0a\u7684\u89e3\u91ca,\u4f46\u7531\u4e8eFF\u8f83\u4f4e,\u53ef\u4ee5\u89e3\u91ca\u4e3a\u4e0d\u5339\u914d\u3002\u5bf9\u4e8e\u6837\u54c15,FF\u7684\u4f4e\u503c\u548c\u5d4c\u5408\u4f53\u7684\u53ef\u80fd\u6027 (\u67d3\u8272\u4f53\u88ab\u63cf\u8ff0\u4e3a\u540e\u7f00\u4f53) \u7684\u7ec4\u5408\u53ef\u80fd\u89e3\u91ca\u4e86\u5047\u9634\u6027\u3002<\/p>\n\n\n\n<table>\n      <caption><strong>\u88681.<\/strong> A\u7ec4\u5047\u9634\u6027\u6837\u672c\u6982\u8ff0<\/caption>\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>\u6837\u672c<\/th>\n            <th>\u80ce\u513f\u767e\u5206\u6bd4<\/th>\n            <th>\u6838\u578b<\/th>\n            <th>\u5927\u5c0f(Mb)<\/th>\n            <th>\u6ce8\u91ca<\/th>\n         <\/tr>\n      <\/thead>\n      <tbody>\n         <tr>\n            <td>1<\/td>\n            <td>10%<\/td>\n            <td>46,XX,del(4)(p16.3).ish del(4)(WHS-,D4S3359-)<\/td>\n            <td>\u57fa\u4e8e\u6838\u578b\u76845-8<\/td>\n            <td>\u53ef\u80fd\u7684\u5927\u5c0f&lt;7 Mb<\/td>\n         <\/tr>\n         <tr>\n            <td>2<\/td>\n            <td>15%<\/td>\n            <td>arr[GRCh37] 12p13.33q11(173786_37876500)x3<\/td>\n            <td>37.7<\/td>\n            <td>\u7591\u4f3c\u9576\u5d4c\u73b0\u8c61<\/td>\n         <\/tr>\n         <tr>\n            <td>3<\/td>\n            <td>9%<\/td>\n           <td>46,XX,der(8)?add(8)(p?)?dup(8)(q22q23)dn.ish der(8)(qter-&gt;?::?-&gt;qter)(D8S504, VIJyRM2053+,wcp8+,VIJyRM2053+).arr[GRCh38] 8p23.3p23.1(158048_6935930)x1,8p23.1p11.23(12585435_ 38267493)x3, 8p11.22(38314367_39246760)x3, 8p11.22(39247087_39386852)x1,8p11.22(39389765_40264413)x3, 8q22.3q23.2(104688373_111952230)x3, 8q24.3(144972747_146295771)x3<\/td>\n            <td>\u5b8c\u5168\u7f3a\u5931=6.9<br>\n\u91cd\u590d\u5408\u8ba1=36.2<\/td>\n            <td>\u6c2f\u5355\u80de\u83cc<\/td>\n         <\/tr>\n         <tr>\n            <td>4<\/td>\n            <td>3%<\/td>\n            <td>46,XX,add(4)(qter).ish add(4)(wcp4-).arr[GRCh37] 5q31.2q35.3(138522878_180715096)x3<\/td>\n            <td>41.2<\/td>\n            <td><\/td>\n         <\/tr>\n         <tr>\n            <td>5<\/td>\n            <td>4%<\/td>\n            <td>46,XY,i(18)(q10)<\/td>\n            <td><\/td>\n            <td><\/td>\n         <\/tr>\n      <\/tbody>\n   <\/table>\n\n\n\n<p>\u5728\u5177\u6709\u5fae\u9635\u5217\u7ed3\u679c (15\u6b21\u91cd\u6d4b\u5e8f) \u7684\u6837\u672c\u4e2d,\u89c2\u5bdf\u5230\u7531NIPT\u68c0\u6d4b\u5230\u7684\u90e8\u5206\u4e0d\u5e73\u8861\u91cd\u6d4b\u5e8f\u7684\u7247\u6bb5\u5927\u5c0f\u4e0e\u7531\u5fae\u9635\u5217\u68c0\u6d4b\u5230\u7684\u90e8\u5206\u4e0d\u5e73\u8861\u91cd\u6d4b\u5e8f\u7684\u7247\u6bb5\u5927\u5c0f\u4e4b\u95f4\u7684\u826f\u597d\u76f8\u5173\u6027,\u4f46\u662f\u6709\u4e00\u4e2a\u4f8b\u5916 (\u88682\u7684\u6837\u672c5) \u3002NIPT\u79f0\u4e3a\u6837\u672c\u67d3\u8272\u4f53\u4e09\u4f5311,\u800c\u6838\u578b\u548c\u9635\u5217\u662f\u6613\u4f4dt (11);\u62a5\u9053\u4e86\u6765\u81ea12) \u7684\u884d\u751f\u67d3\u8272\u4f5311,\u67d3\u8272\u4f5311\u7684\u90e8\u5206\u672b\u7aef\u7f3a\u5931\u4e3a2.7 Mb, 12\u53f7\u67d3\u8272\u4f53\u4e09\u4f53\u6027\u7684\u90e8\u5206\u672b\u7aef\u91cd\u53e0\u4e3a11.7 Mb\u3002<\/p>\n\n\n\n<table>\n      <caption><strong>\u88682.<\/strong> \u9635\u5217\u548cNIPT\u4e4b\u95f4CNV\u5927\u5c0f (Mb) \u7684\u76f8\u5173\u6027\u3002<\/caption>\n      <colgroup>\n         <col style=\"width:calc(100% \/ 3);\">\n         <col style=\"width:calc(100% \/ 3);\">\n         <col style=\"width:calc(100% \/ 3);\">\n      <\/colgroup>\n      <thead>\n         <tr>\n            <th>\u6837\u672c<\/th>\n            <th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a><\/th>\n            <th>\u6392\u5217<\/th>\n         <\/tr>\n      <\/thead>\n      <tbody>\n         <tr>\n            <td>1<\/td>\n            <td>18.2<\/td>\n            <td>12.8<\/td>\n         <\/tr>\n         <tr>\n            <td>2<\/td>\n            <td>9.7<\/td>\n            <td>9.8<\/td>\n         <\/tr>\n         <tr>\n            <td>3<\/td>\n            <td>11.5<\/td>\n            <td>11.1<\/td>\n         <\/tr>\n         <tr>\n            <td>4<\/td>\n            <td>28.8<\/td>\n            <td>29.9<\/td>\n         <\/tr>\n         <tr>\n            <td>5<\/td>\n            <td>11\u53f7\u67d3\u8272\u4f53\u4e09\u4f53<\/td>\n            <td>2.7<\/td>\n         <\/tr>\n         <tr>\n            <td>6<\/td>\n            <td>8.1<\/td>\n            <td>6.7<\/td>\n         <\/tr>\n         <tr>\n            <td>7<\/td>\n            <td>10.7<\/td>\n            <td>11.5<\/td>\n         <\/tr>\n         <tr>\n            <td>8<\/td>\n            <td>11.3<\/td>\n            <td>17.4<\/td>\n         <\/tr>\n         <tr>\n            <td>9<\/td>\n            <td>26<\/td>\n            <td>26.6<\/td>\n         <\/tr>\n         <tr>\n            <td>10<\/td>\n            <td>17.2<\/td>\n            <td>7.9<\/td>\n         <\/tr>\n         <tr>\n            <td>11<\/td>\n            <td>18.3<\/td>\n            <td>18.3<\/td>\n         <\/tr>\n         <tr>\n            <td>12<\/td>\n            <td>9<\/td>\n            <td>8.8<\/td>\n         <\/tr>\n         <tr>\n            <td>13<\/td>\n            <td>12.5<\/td>\n            <td>12.5<\/td>\n         <\/tr>\n         <tr>\n            <td>14<\/td>\n            <td>13.7<\/td>\n            <td>11.8<\/td>\n         <\/tr>\n         <tr>\n            <td>15<\/td>\n            <td>60.1<\/td>\n            <td>59.9<\/td>\n         <\/tr>\n      <\/tbody>\n      <tfoot>\n         <tr><td colspan=\"3\">CNV,\u590d\u5236\u6570\u7684\u53d8\u52a8;\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5\u3002<\/td>\n      <\/tr><\/tfoot>\n   <\/table>\n\n\n\n<p>\u5bf9\u5177\u6709\u90e8\u5206\u4e0d\u5e73\u8861\u91cd\u7ec4\u768435\u4e2a\u80ce\u513f\u4e2d\u768441\u4e2a\u7f3a\u5931\/\u91cd\u590d\u7247\u6bb5\u22657Mb\u7684\u5206\u6790\u8868\u660e\u68c0\u6d4b\u7387\u4e0e\u7f3a\u5931\u548c\u91cd\u590d\u76f8\u5f53\u3002\u76f8\u53cd\uff0c\u4e0e\u672b\u7aef\u4f4d\u9519\u76f8\u6bd4\uff0c\u95f4\u8d28\u4f4d\u9519\u53ef\u80fd\u66f4\u654f\u611f (\u88683) \uff0c\u5e76\u4e14\u9700\u8981\u66f4\u5927\u7684\u6837\u672c\u5927\u5c0f\u6765\u786e\u5b9a\u8fd9\u79cd\u8d8b\u52bf\u3002<\/p>\n\n\n\n<table>\n      <caption><strong>\u88683. <\/strong> \u5728\u8bd5\u9a8c\u6837\u672c\u4e2d\u89c2\u5bdf\u5230\u7684\u4e0d\u5e73\u8861\u7ed3\u6784\u91cd\u65b0\u6392\u5217\u3002<\/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>\u4f4d\u79fb\u7684\u7c7b\u578b<\/th>\n            <th>\u6838\u578bn\u7684\u89c2\u5bdf<\/th>\n            <th>\u901a\u8fc7NIPT, n\u68c0\u6d4b<\/th>\n            <th>\u68c0\u6d4b\u7387\uff0c% (95%\u7f6e\u4fe1\u533a\u95f4)<\/th>\n         <\/tr>\n      <\/thead>\n      <tbody>\n         <tr>\n            <td>\u5220\u9664<\/td>\n            <td>13<\/td>\n            <td>11<\/td>\n            <td>84.6 (54.6-98.1)<\/td>\n         <\/tr>\n         <tr>\n            <td>\u590d\u5236<\/td>\n            <td>28<\/td>\n            <td>24<\/td>\n            <td>85.7 (67.3-96.0)<\/td>\n         <\/tr>\n         <tr>\n            <td>\u95f4\u8d28\u6027<\/td>\n            <td>5<\/td>\n            <td>5<\/td>\n            <td>100 (47.8-100)<\/td>\n         <\/tr>\n         <tr>\n            <td>\u7aef\u5b50<\/td>\n            <td>36<\/td>\n            <td>28<\/td>\n            <td>77.8 (60.9-89.9)<\/td>\n         <\/tr>\n      <\/tbody>\n      <tfoot>\n         <tr><td colspan=\"4\">CI,\u7f6e\u4fe1\u533a\u95f4<\/td>\n      <\/tr><\/tfoot>\n   <\/table>\n\n\n\n<p>\u57fa\u4e8eMSS\u98ce\u9669\u8bc4\u5206,\u4e5f\u5e0c\u671b\u786e\u5b9a\u7b5b\u9009\u7b56\u7565\u4ee5\u9009\u62e9\u5177\u6709\u6700\u9ad8\u4e0d\u826f\u540e\u679c\u98ce\u9669\u7684\u60a3\u8005\u3002Lindquist\u7b49\u4eba [3] \u6839\u636eMSS\u98ce\u9669\u8bc4\u5206\u786e\u5b9a\u4e86\u60a3\u75c5\u7387\u3002\u4f7f\u7528\u8fd9\u4e9b\u60a3\u75c5\u7387\u503c,\u6839\u636e\u672c\u7814\u7a76\u89c4\u830399.32%\u548c\u7075\u654f\u5ea688.1%\u7684MSS\u98ce\u9669\u8bc4\u5206\u5dee\u5f02\u8ba1\u7b97\u6b63\u9884\u6d4b\u503c (PPV) (\u88684) \u3002\u4e00\u822c\u4eba\u7fa4\u548cMSS\u98ce\u9669\u8bc4\u5206&gt;1\/300\u7ec4\u7684\u7406\u8bbaPPV\u4e3a11~64%\u3002<\/p>\n\n\n\n<table>\n      <caption><strong>\u88684.<\/strong> \u57fa\u4e8eACA\u60a3\u75c5\u7387\u548cMSS\u98ce\u9669\u8bc4\u5206\u7684PPV\u3002<\/caption>\n      <colgroup>\n         <col style=\"width:calc(100% \/ 6);\">\n         <col style=\"width:calc(100% \/ 6);\">\n         <col style=\"width:calc(100% \/ 6);\">\n         <col style=\"width:calc(100% \/ 6);\">\n         <col style=\"width:calc(100% \/ 6);\">\n         <col style=\"width:calc(100% \/ 6);\">\n      <\/colgroup>\n      <thead>\n         <tr>\n            <th>\u6d4b\u91cf<\/th>\n            <th>\u4e00\u822c\u4eba\u7fa4<\/th>\n            <th>MSS\u8bc4\u5206<br>1\/51-1\/1000<\/th>\n            <th>MSS\u8bc4\u5206<br>&gt;1\/1000<\/th>\n            <th>MSS\u8bc4\u5206<br>1\/51-1\/300<\/th>\n            <th>MSS\u8bc4\u5206<br>&gt;1\/300<\/th>\n         <\/tr>\n      <\/thead>\n      <tbody>\n         <tr>\n            <td>\u60a3\u75c5\u7387<sup>1<\/sup><\/td>\n            <td>0.10%<\/td>\n            <td>0.37%<\/td>\n            <td>0.61%<\/td>\n            <td>1.01%<\/td>\n            <td>1.40%<\/td>\n         <\/tr>\n         <tr>\n            <td>PPV<\/td>\n            <td>11%<\/td>\n            <td>32%<\/td>\n            <td>44%<\/td>\n            <td>56%<\/td>\n            <td>64%<\/td>\n         <\/tr>\n      <\/tbody>\n      <tfoot>\n         <tr><td colspan=\"6\"><sup>1<\/sup>\u503c\u57fa\u4e8eLindquist\u7b49\u4eba\u7684\u7814\u7a76\u3002 [3]. .PPV,\u9633\u6027\u9884\u6d4b\u503c;ACA,\u975e\u5178\u578b\u67d3\u8272\u4f53\u5f02\u5e38;MSS,\u6bcd\u4f53\u8840\u6e05\u7b5b\u67e5\u3002<\/td>\n      <\/tr><\/tfoot>\n   <\/table>\n\n\n\n<p>\u961f\u5217B,\u5373\u67e5\u8be2\u4eba\u7fa4\u961f\u5217 (\u56fe2) \uff0c\u5305\u62ec3097\u4e2a\u6837\u672c\uff0c\u8fd9\u4e9b\u6837\u672c\u6765\u81ea\u63a5\u53d7\u5e38\u89c4NIPT\u7684\u5973\u6027\uff0c\u7528\u4e8e\u5e38\u89c1\u7684\u975e\u6574\u500d\u6027\uff0c\u5176\u4e2d88%\u7684MSS\u98ce\u9669\u22651\/1000 (\u88685) \u3002\u5e73\u5747\u6000\u5b55\u5468\u9f84\u4e3a16.8\u5468 (10.1.37.0\u5468) \u3002\u54a8\u8be2\u7fa4 (\u961f\u5217B) \u662f\u751f\u7269\u94f6\u884c (\u961f\u5217A) \u6837\u672c (\u5206\u522b\u4e3a16.8\u5468\u548c17.7\u5468);p=0.003) \u7684\u5e73\u5747\u80ce\u9f84\u7a0d\u4f4e\u3002Bio bank\u961f\u5217\u7684\u6000\u5b55\u5e74\u9f84\u4e3a11.0~36.3\u5468\u3002A\u7ec4\u548cB\u7ec4\u80ce\u513f\u5206\u7ea7\u6bd4\u8f83 (\u88686) \uff0c\u5dee\u5f02\u6709\u7edf\u8ba1\u5b66\u610f\u4e49 (p&lt;0.001) \u3002<\/p>\n\n\n\n<figure class=\"cohoto_b\">\n<svg xmlns=\"http:\/\/www.w3.org\/2000\/svg\" viewBox=\"0 0 652.23 481.05\">\n\t<defs>\n\t\t<style>.cohoto_b .a{fill:#ffe79c;}\n.cohoto_b .a,\n.cohoto_b .b,\n.cohoto_b .c,\n.cohoto_b .d,\n.cohoto_b 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<figcaption><strong>\u56fe2.<\/strong>\u4ecb\u7ecd\u4eba\u7fa4\u4f53\u3001\u5931\u8d25\u6837\u672c\u548c\u4ecb\u7ecd\u4eba\u961f\u5217\u7684\u6982\u8981\u3002\u67d3\u8272\u4f53\u4e09\u4f53\u3002ACA,\u975e\u5178\u578b\u67d3\u8272\u4f53\u5f02\u5e38;\u7ed3\u6784\u5931\u8861\u5f02\u5e38\u3002RAT,\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u4e09\u4f53\u3002<\/figcaption>\n   <\/figure>\n\n\n\n<table>\n      <caption><strong>\u88685.<\/strong> NIPT\u5bf9\u8f6c\u8bca\u4eba\u7fa4\u7684\u9002\u5e94\u3002<\/caption>\n      <colgroup>\n         <col style=\"width:calc(100% \/ 6);\">\n         <col style=\"width:calc(100% \/ 6);\">\n         <col style=\"width:calc(100% \/ 6);\">\n         <col style=\"width:calc(100% \/ 6);\">\n         <col style=\"width:calc(100% \/ 6);\">\n         <col style=\"width:calc(100% \/ 6);\">\n      <\/colgroup>\n      <thead>\n         <tr>\n            <th>\u603b\u4f53\u7c7b\u578b<\/th>\n            <th>\u5931\u8d25<\/th>\n            <th>\u65e0\u5f02\u5e38<\/th>\n 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  <td>0<\/td>\n            <td>1<\/td>\n            <td>54 (2)<\/td>\n         <\/tr>\n         <tr>\n            <th>\u521d\u6b65\u5ba1\u67e5<\/th>\n            <td>8<\/td>\n            <td>147<\/td>\n            <td>1<\/td>\n            <td>5<\/td>\n            <td>161 (5)<\/td>\n         <\/tr>\n         <tr>\n            <th>\u603b\u8ba1<\/th>\n            <td>90<\/td>\n            <td>2935<\/td>\n            <td>36<\/td>\n            <td>36<\/td>\n            <td>3097<\/td>\n         <\/tr>\n      <\/tbody>\n      <tfoot>\n         <tr><td colspan=\"7\">ACA,\u975e\u5178\u578b\u67d3\u8272\u4f53\u5f02\u5e38;MSS,\u6bcd\u4f53\u8840\u6e05\u7b5b\u67e5\u3002<\/td>\n      <\/tr><\/tfoot>\n   <\/table>\n\n\n\n<table>\n      <caption><strong>\u88686.<\/strong> \u751f\u7269\u5e93\u548c\u8f6c\u4ecb\u4eba\u53e3\u7684\u80ce\u513f\u5206\u7ec4\u3002<\/caption>\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>\u6d4b\u91cf<\/th>\n            <th>\u751f\u7269\u5e93\u6837\u672c (A\u7ec4)(n = 189)<\/th>\n            <th>\u6765\u81eaA\u7ec4 (n=147) \u7684\u6b63\u5e38\u751f\u7269\u5e93\u6837\u54c1<\/th>\n            <th>\u6765\u81eaA\u7ec4\u7684\u751f\u7269\u5e93\u6837\u54c1\u7684\u5f02\u5e38 (n=42)<\/th>\n            <th>\u67e5\u8be2\u6837\u672c (\u961f\u5217B) (n=3007)<\/th>\n         <\/tr>\n      <\/thead>\n      <tbody>\n         <tr>\n            <td>\u5e73\u5747<\/td>\n            <td>12.27%<\/td>\n            <td>12.40%<\/td>\n            <td>11.76%<\/td>\n            <td>11%<\/td>\n         <\/tr>\n         <tr>\n            <td>\u4e2d\u95f4\u503c<\/td>\n            <td>11%<\/td>\n            <td>11%<\/td>\n            <td>10.5%<\/td>\n            <td>10%<\/td>\n         <\/tr>\n         <tr>\n            <td>\u8303\u56f4<\/td>\n            <td>3-35%<\/td>\n            <td>4-35%<\/td>\n            <td>3-24%<\/td>\n            <td>2-35%<\/td>\n         <\/tr>\n      <\/tbody>\n   <\/table>\n\n\n\n<p>\u5bf93097\u4e2a\u6837\u672c (\u961f\u5217B) \u7684NIPT\u5206\u6790\u5bfc\u81f490\u4e2a (2.9%) \u7684\u521d\u59cb\u5931\u8d25;\u6700\u7ec8\u5931\u8d25\u7387\u662f\u672a\u77e5\u7684,\u56e0\u4e3a\u6837\u672c\u6ca1\u6709\u901a\u8fc7\u7b2c\u4e8c\u6b21\u6d4b\u8bd5\u3002\u5728\u6536\u5230\u7ed3\u679c\u76843007\u4e2a\u6837\u672c\u4e2d (\u56fe2) \uff0c\u670936\u4e2a\u6837\u672c (1.2%) \u663e\u793a\u67d3\u8272\u4f53\u4e09\u4f5313\u300118\u548c21\u7684\u9633\u6027\u7ed3\u679c\uff0c\u670936\u4e2a\u6837\u672c (1.2%) \u663e\u793aACA\u9633\u6027\u7ed3\u679c\u3002\u9ad8\u98ce\u9669\u4eba\u7fa4 (MSS\u98ce\u9669\u22651\/1000) ACA\u9633\u6027\u53601.09%,\u521d\u7b5b\u4eba\u7fa4ACA\u9633\u6027\u53603.27% (\u88687) \u300236\u4e2aACA\u5305\u62ec10\u4e2aSUA\u300125\u4e2aRAT\u548c1\u4e2a\u5177\u6709\u591a\u79cd\u5f02\u5e38\u7684\u75c5\u4f8b\u3002 \u4e5f\u5c31\u662f\u8bf4, (1) \u5bf9\u5e94\u4e8e\u7ecf\u5178\u67d3\u8272\u4f53\u91cd\u6392\u7684SUA,\u4f8b\u5982\u7f3a\u5931\u3001\u91cd\u590d\u3001\u6613\u4f4d\u884d\u751f\u7269\u67d3\u8272\u4f53\u3001\u5012\u4f4d\u6216\u6807\u8bb0\u67d3\u8272\u4f53\u7684\u91cd\u7ec4\u4f53;\u548c (2) \u5bf9\u5e94\u4e8e\u7ecf\u5178\u67d3\u8272\u4f53\u91cd\u6392\u7684SUA,\u4f8b\u5982\u67d3\u8272\u4f53\u4e09\u4f538\u30019\u548c22\u3002;\u67d3\u8272\u4f53\u4e09\u4f5314\u548c15\u5355\u4eb2\u6027\u4e8c\u4f53\u7684\u98ce\u9669;\u6000\u5b55\u7ed3\u679c\u4e0d\u826f\u98ce\u9669\u7684\u67d3\u8272\u4f53\u4e09\u4f5316;\u67d3\u8272\u4f53\u4e09\u4f5312\u6709\u540c\u67d3\u8272\u4f5312p\u98ce\u9669(Pallister.Killian\u7efc\u5408\u5f81);\u4ec517\u4e2a\u6837\u672c\u4e3a\u9633\u6027:\u6240\u6709\u7814\u7a76\u7ec4\u4ec5\u4e3a0.57%\uff0c MSS\u98ce\u9669\u22651\/1000\u7684\u9ad8\u98ce\u9669\u4eba\u7fa4\u4e3a0.53%,\u63a5\u53d7\u8fdb\u4e00\u6b65NIPT\u7b5b\u67e5\u7684\u4eba\u7fa4\u4e3a0.65% (\u88687) \u3002<\/p>\n\n\n\n<table>\n      <caption><strong>\u88687.<\/strong>\u6839\u636eNIPT\u7684\u9002\u5e94\uff0c\u4ecb\u7ecd\u4eba\u7fa4\u4e2d\u7684ACAS<\/caption>\n      <colgroup>\n         <col style=\"width:calc(100% \/ 7);\">\n         <col style=\"width:calc(100% \/ 7);\">\n         <col style=\"width:calc(100% \/ 7);\">\n         <col style=\"width:calc(100% \/ 7);\">\n         <col style=\"width:calc(100% \/ 7);\">\n         <col style=\"width:calc(100% \/ 7);\">\n         <col style=\"width:calc(100% \/ 7);\">\n      <\/colgroup>\n      <thead>\n         <tr>\n            <th>\u603b\u4f53\u7c7b\u578b<\/th>\n            <th>\u6392\u9664\u969c\u788d\u7684\u603b\u8ba1<\/th>\n            <th>\u7ec41+SUA<\/th>\n            <th>\u7ec42<\/th>\n            <th>\u7ec43<\/th>\n            <th>\u5168ACA\u7684\u60a3\u75c5\u7387<\/th>\n            <th>\u7ec41+SUA\u7684\u60a3\u75c5\u7387<\/th>\n         <\/tr>\n      <\/thead>\n      <tbody>\n         <tr>\n            <th>MSS\u22671\/1000<\/th>\n            <td>2660<\/td>\n            <td>14<\/td>\n            <td>10<\/td>\n            <td>5<\/td>\n            <td>1.09%<\/td>\n            <td>0.53%<\/td>\n         <\/tr>\n         <tr>\n            <th>MSS &lt; 1\/1000<\/th>\n            <td>140<\/td>\n            <td>1<\/td>\n            <td>0<\/td>\n            <td>0<\/td>\n            <td>0.71%<\/td>\n            <td>0.71%<\/td>\n         <\/tr>\n         <tr>\n            <th>\u521d\u6b65\u5ba1\u67e5<\/th>\n            <td>153<\/td>\n            <td>1<\/td>\n            <td>3<\/td>\n            <td>1<\/td>\n            <td>3.27%<\/td>\n            <td>0.65%<\/td>\n         <\/tr>\n         <tr>\n            <th>\u80ce\u513f\u67d3\u8272\u4f53\u4e09\u4f53\u6216\u7236\u6bcd\u7684\u7f57\u4f2f\u900a\u6613\u4f4d\u75c5\u53f2<\/th>\n            <td>54<\/td>\n            <td>1<\/td>\n            <td>0<\/td>\n            <td>0<\/td>\n            <td>1.85%<\/td>\n            <td>1.85%<\/td>\n         <\/tr>\n      <\/tbody>\n   <\/table>\n\n\n\n<p>ACAS,\u975e\u5178\u578b\u67d3\u8272\u4f53\u5f02\u5e38;MSS,\u6bcd\u4f53\u8840\u6e05\u7b5b\u67e5\u3002\u7b2c\u4e00\u7ec4\u5305\u62ec\u4ee5\u4e0b\u67d3\u8272\u4f53\u4e09\u4f53:\u67d3\u8272\u4f53\u4e09\u4f538\u30019\u548c22\u56e0\u4e3a\u67d3\u8272\u4f53\u4e09\u4f53\u7ecf\u5e38\u6d89\u53ca\u5230\u80ce\u513f\u3002\u7531\u4e8e\u5355\u4eb2\u6027\u4e8c\u4f53\u7efc\u5408\u75c7\u7684\u98ce\u9669\uff0c\u67d3\u8272\u4f53\u4e09\u4f53\u7efc\u5408\u75c714\u548c15;\u56e0\u4e3a\u591a\u79cd\u4e0d\u826f\u6000\u5b55\u7ed3\u679c\u7684\u98ce\u9669,\u67d3\u8272\u4f53\u4e09\u4f5316;\u548c\u540c\u79cd\u67d3\u8272\u4f5312p\u5f15\u8d77Pallister.Killian\u7efc\u5408\u75c7,\u5bfc\u81f4\u67d3\u8272\u4f53\u4e09\u4f5312\u3002\u7ec42\u5305\u62ec\u67d3\u8272\u4f53\u4e09\u4f533\u548c7,\u5df2\u77e5\u5176\u901a\u5e38\u4e0e\u6ecb\u517b\u5c42\u7ec6\u80de\u76f8\u5173 [37] \u3002\u7ec43\u5305\u62ec\u6240\u6709\u5176\u4ed6RAA (\u67d3\u8272\u4f53\u4e09\u4f531\u30012\u30014\u30015\u30016\u300110\u300111\u300117\u300119\u548c20)\uff0c\u5305\u62ec\u5bf9\u80ce\u513f\u975e\u81f4\u75c5\u6027\u6216\u901a\u5e38\u9644\u7740\u4e8e\u80ce\u76d8\u7684\u4e09\u4f53\uff0c\u4f8b\u5982\u82b1\u53f6\u67d3\u8272\u4f53\u4e09\u4f5320\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%80%83%E5%AF%9F\"><\/span>4. <strong>\u8003\u5bdf<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u6587\u8bc4\u4ef7\u4e86\u5168\u57fa\u56e0\u7ec4NIPT\u6d4b\u5b9a\u68c0\u6d4b\u975e\u5178\u578b\u67d3\u8272\u4f53\u5f02\u5e38\u5b58\u5728\u7684\u80fd\u529b\u3002\u5df2\u53d1\u73b0NIPT\u5bf9\u5176\u68c0\u6d4b\u5177\u6709\u9ad8\u5ea6\u7279\u5f02\u6027,\u5e76\u4e14CPM\u88ab\u786e\u8ba4\u4e3a\u5355\u4e00\u5047\u9633\u6027\u8c03\u7528\u7684\u751f\u7269\u8bf4\u660e\u3002\u5168\u57fa\u56e0\u7ec4NIPT\u7b5b\u9009\u4ee588.1% (CI 75.00.94.81) \u7684\u7075\u654f\u5ea6\u68c0\u6d4b\u4e86\u751f\u7269\u5e93\u7fa4\u4f53\u4e2d\u7684\u5927\u591a\u6570\u4e0d\u5e73\u8861\u91cd\u65b0\u6392\u5217,\u5e76\u663e\u793a\u51fa\u4e0e\u6240\u68c0\u6d4b\u7684CNV\u5927\u5c0f\u7684\u9635\u5217\u7684\u826f\u597d\u76f8\u5173\u6027\u3002\u867d\u7136\u5176\u7075\u654f\u5ea6\u4f4e\u4e8e\u7528\u666e\u901a\u67d3\u8272\u4f53\u4e09\u4f53 [38] \u89c2\u5bdf\u5230\u7684\u7075\u654f\u5ea6,\u4f46\u5bf9\u5176\u4e2d3\u4e2a\u5047\u9634\u6027\u7ed3\u679c (\u7f3a\u5931\u7684\u5927\u5c0f,\u6000\u7591\u9576\u5d4c\u548c\u8272\u7d20\u9f3b\u54bd\u75be\u75c5) \u7684\u751f\u7269\u5b66\u89e3\u91ca\u88ab\u8d28\u7591\u3002\u7531\u4e8e\u7279\u5f02\u6027\u9ad8\uff0c\u63a5\u53d7ACA\u5b58\u5728\u9633\u6027\u7ed3\u679c\u7684\u8f6c\u8bca\u4eba\u7fa4\u6837\u672c\u6570\u91cf\u8f83\u5c11 (1.2%) \u3002\u4e34\u5e8a\u5b9e\u8df5\u4e2d\u7684\u5931\u8d25\u7387\u9884\u8ba1\u4f4e\u4e8e\u672c\u7814\u7a76\u4e2d\u89c2\u5bdf\u5230\u7684\u5931\u8d25\u7387\uff0c\u8fd9\u662f\u56e0\u4e3a\u5f53\u7b2c\u4e00\u4e2a\u6837\u54c1\u5931\u8d25\u65f6\uff0c\u80fd\u591f\u8fdb\u884c\u989d\u5916\u7684\u8840\u6db2\u6837\u54c1\u3002\u6d4b\u8bd5 (\u751f\u7269\u5e93) \u6837\u672c\u7684\u80ce\u9f84\u7a0d\u957f\u4e8e\u5f15\u5165\u7ec4,\u5e73\u5747\u80ce\u513f\u5206\u6570\u7a0d\u9ad8\u4e8e\u9884\u671f\u3002\u7136\u800c\uff0c\u4e24\u4e2a\u7fa4\u4f53\u4e4b\u95f4\u7684di.erence\u5728\u4e34\u5e8a\u4e0a\u6ca1\u6709\u610f\u4e49,\u56e0\u6b64\u7814\u7a76\u7fa4\u4f53\u4e2d\u7684\u8868\u73b0\u53ef\u80fd\u4e0e\u5728\u4e00\u822c\u6000\u5b55\u7fa4\u4f53\u4e2d\u89c2\u5bdf\u5230\u7684\u76f8\u4f3c\u3002<\/p>\n\n\n\n<p>\u5c3d\u7ba1\u5bf9\u5e38\u89c1\u80ce\u513f\u975e\u6574\u500d\u6027\u7b5b\u67e5\u7684\u4ef7\u503c\u5df2\u8fbe\u6210\u5171\u8bc6\uff0c\u4f46\u5bf9\u975e\u5178\u578b\u80ce\u513f\u7578\u5f62\u7b5b\u67e5\u7684\u6709\u6548\u6027\u4ecd\u5b58\u5728\u6fc0\u70c8\u4e89\u8bba [39] \uff0c\u5e76\u4e14\u5728\u4e34\u5e8a\u7fa4\u4f53\u4e2d\u4ecd\u5b58\u5728\u4e89\u8bae [40] \u3002\u5373\u4f7f\u8fd9\u4e9bACA\u7684\u4e0d\u826f\u9884\u540e\u548c\u8bca\u65ad\u6548\u7528\u88ab\u8ba4\u4e3a\u662f\u76f8\u5173\u7684\uff0c\u4f46\u662f\u901a\u5e38\u8ba4\u4e3a\u8fd9\u4e9bACA\u5f88\u5c11\u6210\u4e3a\u7b5b\u9009\u7b56\u7565\u7684\u4e00\u90e8\u5206\u3002\u4e8b\u5b9e\u4e0a\uff0c\u8fd9\u4e9b\u75be\u75c5\u5728\u4eba\u7fa4\u4e2d\u7684\u786e\u5207\u60a3\u75c5\u7387\u4ecd\u7136\u672a\u77e5\u5e76\u4e14\u53ef\u80fd\u88ab\u4f4e\u4f30\u3002\u539f\u56e0\u5728\u4e8e,\u4fb5\u5165\u6027\u68c0\u67e5\u5728\u672a\u88ab\u9009\u62e9\u7684\u5927\u578b\u6000\u5b55\u4eba\u7fa4\u4e2d\u5e76\u672a\u5f97\u5230\u5e7f\u6cdb\u5e94\u7528,\u800c\u4e14\u4e5f\u6ca1\u6709\u9488\u5bf9\u8fd9\u4e9b\u5f02\u5e38\u5bf9\u6240\u6709\u65b0\u751f\u513f\u8fdb\u884c\u5e38\u89c4\u68c0\u67e5\u7684\u7814\u7a76\u3002\u5728\u6cd5\u56fd\u7ec6\u80de\u9057\u4f20\u5b66\u7814\u7a76\u6240\u6700\u8fd1\u7684\u4e00\u4efd\u62a5\u544a [31] \u4e2d\uff0c ACA\u5360\u4ea7\u524d\u4e0d\u5e73\u8861\u67d3\u8272\u4f53\u5f02\u5e38\u768412.25%\u3002Lindquist\u7b49 [3] \u8ba4\u4e3a\uff0c\u4e0d\u8003\u8651\u51fa\u751f\u540e\u53ef\u80fd\u53d1\u73b0\u7684\u75c5\u4f8b\uff0c\u603b\u60a3\u75c5\u7387\u4f30\u8ba1\u4e3a1\/1000\u3002\u6b64\u5916\uff0c\u7531\u4e8eACA\u7684\u98ce\u9669\u968f\u7740MSS\u98ce\u9669\u8bc4\u5206 [1.3] \u800c\u589e\u52a0\uff0c\u56e0\u6b64\u5c06\u5176\u7528\u4f5c\u4e8c\u7ea7\u6d4b\u8bd5\u66f4\u4e3a\u91cd\u8981\u3002<\/p>\n\n\n\n<p>\u672c\u7814\u7a76\u8868\u660e,\u5168\u57fa\u56e0\u7ec4NIPT\u662f\u7b5b\u9009\u975e\u5178\u578b\u80ce\u513f\u5f02\u5e38 (\u5982\u7f55\u89c1\u7684\u4e09\u4f53\u548c\u5206\u6bb5\u4e0d\u5e73\u8861\u91cd\u7ec4) \u7684\u6709\u6548\u65b9\u6cd5,\u53ef\u4ee5\u5728\u65e0\u9700\u5927\u91cf\u4e0d\u5fc5\u8981\u7684\u4fb5\u5165\u6027\u6cbb\u7597\u7684\u60c5\u51b5\u4e0b\u68c0\u6d4b\u51fa\u66f4\u591a\u80ce\u513f\u5f02\u5e38\u3002\u8fd92\u79cd\u7b56\u7565\u53ef\u80fd\u6709\u52a9\u4e8e\u9009\u62e9\u4e0d\u826f\u540e\u679c\u98ce\u9669\u6700\u9ad8\u7684\u4eba\u7fa4\u3002(1) \u5982\u4e0a\u8ff0\u7ed3\u679c\u90e8\u5206\u6240\u8ff0\uff0c\u57fa\u4e8eMSS\u7ed3\u679c\u5411\u9ad8\u98ce\u9669\u5b55\u5987\u63a8\u8350\u5168\u57fa\u56e0\u7ec4NIPT,\u4ee5\u53ca (2) \u7b5b\u9009\u5df2\u77e5\u5177\u6709\u9ad8\u4e0d\u826f\u7ed3\u5c40\u98ce\u9669\u7684\u6709\u9650\u6570\u91cf\u7684ACA\u3002\u5173\u4e8e\u7b2c2\u4e2a\u7b56\u7565,\u867d\u7136\u53ef\u4ee5\u5728\u4e00\u822c\u6000\u5b55\u4eba\u7fa4\u4e2d\u4f7f\u7528\u5168\u57fa\u56e0\u7ec4NIPT\u8fdb\u884cACA\u7b5b\u9009,\u4f46\u5bf9\u4e8eMSS\u98ce\u9669\u8bc4\u5206\u8d85\u8fc71\/1000 (\u7406\u8bbaPPV\u4e3a32%\u81f364%) \u7684\u5b55\u5987,\u5efa\u8bae\u9650\u5236\u5168\u57fa\u56e0\u7ec4NIPT\u7684\u5b9e\u65bd\u3002\u5728\u6cd5\u56fd\uff0c\u8fd9\u79cd\u63a8\u8350\u662f\u53ef\u884c\u7684,\u56e0\u4e3aNIPT\u662f\u57fa\u4e8eMSS\u98ce\u9669\u8bc4\u5206\u7684\u7b2c2\u5c42\u7b5b\u67e5,\u5bf9\u4e8e\u6ca1\u6709\u67d3\u8272\u4f53\u91cd\u6392\u75c5\u53f2\u7684\u5355\u6b21\u6000\u5b55\u3002\u5c06\u5168\u57fa\u56e0\u7ec4NIPT\u9650\u5236\u5728\u5177\u6709\u9ad8\u98ce\u9669MSS\u8bc4\u5206\u7684\u5b55\u5987\uff0c\u5728\u6b27\u6d32\u7684\u5317\u6b27\u56fd\u5bb6\uff0c\u6ce2\u5170\uff0c\u7f57\u9a6c\u5c3c\u4e9a\uff0c\u610f\u5927\u5229\u548c\u6fb3\u5927\u5229\u4e9a\u7b49\u5176\u4ed6\u56fd\u5bb6\u4e5f\u662f\u53ef\u884c\u7684 [41] \u3002\u5728\u5176\u4ed6\u56fd\u5bb6\uff0c\u53ef\u4ee5\u9009\u62e9\u5728\u672a\u7ecf\u9009\u62e9\u7684\u4eba\u7fa4\u4e2d\u4f7f\u7528\u5168\u57fa\u56e0\u7ec4cfDNA\u5206\u6790\u3002\u4e0d\u540c\u56fd\u5bb6\/\u5730\u533a\u7684NIPT\u65b9\u6cd5\u5b58\u5728\u5f88\u5927\u5dee\u5f02\uff0c\u4e00\u4e9b\u56fd\u5bb6\/\u5730\u533a\u63a8\u8350NIPT\u4f5c\u4e3a\u7b2c\u4e00\u9636\u6bb5\u7684\u9009\u62e9,\u53e6\u4e00\u4e9b\u56fd\u5bb6\/\u5730\u533a\u63a8\u8350NIPT\u4f5c\u4e3a\u5076\u53d1\u6a21\u5f0f\u7684\u4e00\u90e8\u5206\u3002Benachi\u7b49\u4eba [42] \u62a5\u544a\u4e86\u4e00\u9879\u9488\u5bf9\u6b27\u6d32\u533b\u52a1\u4eba\u5458\u7684\u8c03\u67e5\u7ed3\u679c\uff0c\u5e76\u5f3a\u8c03\u5404\u56fd\u533b\u52a1\u4eba\u5458\u5728\u6269\u5927NIPT\u9009\u62e9\u65b9\u9762\u5b58\u5728\u5f88\u5927\u5dee\u5f02\uff0c\u4f8b\u5982\u7b5b\u9009\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u4e09\u4f53\u548c\u590d\u5236\u6570\u53d8\u5316\u3002\u5c3d\u7ba1\u56fd\u5bb6\/\u5730\u533aNIPT\u62a5\u9500\u5c06\u662f\u4ea7\u524d\u7b5b\u67e5\u7684\u91cd\u8981\u7ec4\u6210\u90e8\u5206\uff0c\u4f46\u9700\u8981\u6ce8\u610f\u7684\u662f\uff0c\u76ee\u524d\u4ec5\u5728\u67d0\u4e9b\u56fd\u5bb6\/\u5730\u533a (\u4f8b\u5982\uff0c\u4e3aNIPT\u63d0\u4f9b\u8d44\u91d1\u7684\u56fd\u5bb6\/\u5730\u533a) \u63d0\u4f9b\u8865\u507f\u8ba1\u5212\u3002\u5728\u5176\u4ed6\u56fd\u5bb6\uff0c\u60a3\u8005\u53ef\u80fd\u9700\u8981\u652f\u4ed8NIPT\u8d39\u7528\uff0c\u6216\u8005\u8fd9\u53ef\u80fd\u7531\u60a3\u8005\u7684\u5065\u5eb7\u4fdd\u9669\u6db5\u76d6\u3002<\/p>\n\n\n\n<p>\u5bf9\u4e8e\u7b2c2\u79cd\u7b56\u7565,\u6211\u4eec\u53ef\u4ee5\u5c06\u7f55\u89c1\u7684\u5e38\u67d3\u8272\u4f53\u975e\u6574\u500d\u4f53\u5206\u4e3a\u4e09\u7ec4\u3002\u5728\u7ec41\u4e2d\uff0c\u67d3\u8272\u4f53\u4e09\u4f53\u662f\u5305\u62ec\u4e09\u4f5312\u7684\u67d3\u8272\u4f53\u4e09\u4f53\uff0c\u56e0\u4e3a\u4e0e\u80ce\u513f\u6700\u76f8\u5173\u7684\u67d3\u8272\u4f53\u4e09\u4f538\u30019\u300122\u548c\u67d3\u8272\u4f53\u4e09\u4f5314\u300115\u5177\u6709\u5355\u4eb2\u4e0d\u548c\u7684\u98ce\u9669\uff0c\u800c\u67d3\u8272\u4f53\u4e09\u4f5316\u5177\u6709\u591a\u4e2a\u4e0d\u826f\u598a\u5a20\u7ed3\u5c40\u7684\u98ce\u9669\uff0c\u800c\u67d3\u8272\u4f53\u4e09\u4f5312\u662f\u7531\u4e8e\u540c\u79cd\u5f02\u4f5312p\u5f15\u8d77Pallister-Killian\u7efc\u5408\u75c7\u3002\u7ec42\u5305\u62ec\u5df2\u77e5\u4e0e\u7ec6\u80de\u8425\u517b\u7ec6\u80de\u6700\u5e38\u7ed3\u5408\u7684\u67d3\u8272\u4f53\u4e09\u4f53,\u5373\u67d3\u8272\u4f53\u4e09\u4f533\u548c7 [37] \u3002\u7ec43\u7531\u6240\u6709\u5176\u4ed6RAA\u7ec4\u6210\uff0c\u5305\u62ec\u5bf9\u80ce\u513f\u975e\u81f4\u75c5\u6027\u7684\u67d3\u8272\u4f53\u4e09\u4f53\uff0c\u4f8b\u5982\u5d4c\u5408\u4f53\u67d3\u8272\u4f5320\u6216\u901a\u5e38\u4e0e\u80ce\u76d8\u7ed3\u5408\u7684\u67d3\u8272\u4f53\u4e09\u4f53\u3002\u5efa\u8bae\u4f7f\u7528\u5168\u57fa\u56e0\u7ec4NIPT\u7b5b\u67e5\u4ec51\u7ec4RAA,\u56e0\u4e3a\u7b5b\u67e5\u8bd5\u9a8c\u5fc5\u987b\u68c0\u6d4b\u7279\u5b9a\u7684\u60a3\u75c5\u7387\u5f02\u5e38\u3002\u5728\u4f4e\u98ce\u9669\u4eba\u7fa4 (\u7b2c1\u5c42\u7b5b\u9009) \u4e2d,\u8fd9\u79cd\u7b56\u7565\u7279\u522b\u6709\u8da3,\u56e0\u4e3a\u5728\u672c\u961f\u5217\u91cc,5\u79cd\u5f02\u5e38\u4e2d\u67094\u79cd\u5c5e\u4e8e\u7b2c2\u7ec4\u548c\u7b2c3\u7ec4,\u5373\u4f7f\u6570\u91cf\u592a\u5c11\u800c\u65e0\u6cd5\u5f97\u51fa\u660e\u786e\u7684\u7ed3\u8bba\u3002\u91cd\u65b0\u5206\u6790\u8377\u5170NIPT\u8054\u76df [28] \u6700\u8fd1\u7684\u4e00\u9879\u7814\u7a76\u4e2d\u53d1\u8868\u7684\u961f\u5217\uff0c\u53ea\u670947\u540d\u5987\u5973\uff0c\u800c\u4e0d\u662f101\u540d\u5987\u5973\u60a3\u6709RAAs NIPT\u9633\u6027\u53cd\u5e94,\u6240\u6709\u80ce\u513fRAAs\u7684\u75c5\u4f8b\u90fd\u5c06\u88ab\u8bca\u65ad\u51fa\u6765\u3002\u5728\u672c\u7814\u7a76\u4e2d,\u4ec5\u9488\u5bf9SUA\u548c\u67d3\u8272\u4f53\u4e09\u4f538\u30019\u300112\u300114\u300115\u300116\u300122\u7684\u9633\u6027NIPT\u8c03\u7528\u7387\u4e3a0.57% (17\/3007) \u3002<\/p>\n\n\n\n<p>\u5168\u57fa\u56e0\u7ec4NIPT\u7684\u7075\u654f\u5ea6\u4e0d\u5982\u63a8\u8350NIPT\u6765\u7b5b\u67e5\u5b58\u5728\u8d85\u58f0\u6ce2\u5f02\u5e38\u7684\u80ce\u513f,\u7279\u522b\u662f\u8003\u8651\u5230\u7ecf\u5e38\u6d89\u53ca\u5fae\u7f3a\u5931\/\u91cd\u590d\u7684\u4e8b\u5b9e\u3002\u56e0\u6b64\uff0c\u5bf9\u4e8e\u901a\u8fc7\u8d85\u58f0\u68c0\u67e5\u53d1\u73b0\u80ce\u513f\u7ed3\u6784\u5f02\u5e38\u7684\u60a3\u8005,\u5efa\u8bae\u901a\u8fc7\u5fae\u9635\u5217\u5206\u6790\u8fdb\u884c\u8bca\u65ad\u6027\u4fb5\u5165\u6027\u68c0\u67e5\u3002<\/p>\n\n\n\n<p>\u8be5\u7814\u7a76\u7684\u4e3b\u8981\u4f18\u52bf\u4e4b\u4e00\u662f\u53ef\u4ee5\u4f7f\u7528\u53d7\u666e\u901a\u67d3\u8272\u4f53\u4e09\u4f53\u4ee5\u5916\u67d3\u8272\u4f53\u5f02\u5e38\u5f71\u54cd\u7684\u6837\u672c,\u5e76\u4e14\u5df2\u77e5\u6240\u6709\u751f\u7269\u5e93\u6837\u672c\u7684\u80ce\u513f\u6838\u578b\u3002\u8fd9\u4f7f\u5f97\u771f\u6b63\u7814\u7a76\u7684\u7279\u5f02\u6027\u548c\u654f\u611f\u6027\u5f97\u4ee5\u786e\u5b9a\u3002\u901a\u8fc7\u89c2\u5bdf99.32% (CI96.22-99.88) \u7684\u9ad8\u7279\u5f02\u5ea6, NIPT\u7684\u5047\u9633\u6027\u7ed3\u679c\u53ea\u67091\u4f8b,\u5224\u65ad\u4e3aCPM\u7684\u539f\u56e0;CPM\u88ab\u79f0\u4e3a\u5f71\u54cdNIPT\u4e34\u5e8a\u7279\u5f02\u6027\u7684\u751f\u7269\u56e0\u7d20\u3002\u80fd\u591f\u4f7f\u7528\u4ecb\u7ecd\u65e5\u5e38\u6000\u5b55\u6837\u672c\u7684\u56e2\u4f53\u4e5f\u662f\u4f18\u52bf\u3002\u8be5\u603b\u4f53\u548c\u96c6\u5408\u7b56\u7565\u8868\u660e\uff0c\u4f7f\u7528\u5168\u57fa\u56e0\u7ec4NIPT\u4e0d\u4f1a\u5bfc\u81f4\u4e0d\u5fc5\u8981\u7684\u4fb5\u5165\u6027\u8bca\u65ad\u7a0b\u5e8f\u7684\u5927\u91cf\u589e\u52a0\uff0c\u8fd9\u662f\u5bf9\u5168\u57fa\u56e0\u7ec4NIPT\u7b5b\u9009\u7684\u5178\u578b\u8ba8\u8bba\u3002\u6b64\u5904\uff0c ACA\u5b58\u5728\u7684NIPT\u9633\u6027\u8c03\u7528\u4e0d\u8d85\u8fc71.2%,\u4e0e\u5176\u4ed6\u7814\u7a76 [33] \u76f8\u5f53\u3002\u6b64\u5916\uff0c\u901a\u8fc7\u9009\u62e9\u6700\u91cd\u8981\u7684ACA,\u6211\u4eec\u80fd\u591f\u5c06\u9633\u6027\u8c03\u7528\u901f\u7387\u964d\u4f4e\u52300.57%\u3002<\/p>\n\n\n\n<p>\u4e3b\u8981\u7814\u7a76\u7684\u5c40\u9650\u6027\u4e4b\u4e00\u662f,\u7531\u4e8e\u8fd9\u662f\u4e00\u7ec4\u9009\u5b9a\u7684\u6000\u5b55\u6837\u672c,\u56e0\u6b64\u53ef\u80fd\u65e0\u6cd5\u771f\u6b63\u4ee3\u8868\u8f83\u5927\u7684\u4e00\u822c\u6000\u5b55\u7fa4\u4f53\u3002\u5728\u6700\u8fd1\u7684\u5176\u4ed6\u51fa\u7248\u7269\u4e2d\uff0c\u7814\u7a76\u4e86\u81f3\u5c1110,000\u591a\u4e2a\u60a3\u8005\u7fa4\u4f53\u7684\u5168\u57fa\u56e0\u7ec4NIPT [5,6,34,43] ,\u4f46\u4e5f\u6709\u4e00\u4e9b\u51fa\u7248\u7269\u62a5\u9053\u4e86\u8d85\u8fc750,000\u4e2a\u60a3\u8005\u7fa4\u4f53\u7684\u7ed3\u679c [28,44,45] \u3002\u7136\u800c\uff0c\u5728\u672c\u7814\u7a76\u5c0f\u7ec4\u4e2d\u89c2\u5bdf\u5230\u7684\u6d4b\u5b9a\u4e0d\u6210\u529f\u7387\u548cFF\u5206\u5e03\u4e0e\u5f15\u5165\u7ec4\u4e2d\u89c2\u5bdf\u5230\u7684\u4e00\u81f4,\u8868\u660e\u6570\u636e\u5177\u6709\u4ee3\u8868\u6027\u3002\u672c\u7814\u7a76\u7684\u53e6\u4e00\u4e2a\u5c40\u9650\u6027\u662f\u6ca1\u6709\u4ecb\u7ecd\u4eba\u7fa4\u7684\u6838\u578b\u548c\u4e34\u5e8a\u8ffd\u8e2a\u4fe1\u606f\u3002\u5c3d\u7ba1\u4ecb\u7ecd\u4eba\u7fa4\u7684\u76ee\u7684\u53ea\u662f\u8ba1\u7b97\u4fb5\u5165\u6027\u64cd\u4f5c\u7684\u6f5c\u5728\u589e\u52a0\uff0c\u4f46\u62e5\u6709\u8fd9\u4e9b\u4fe1\u606f\u6765\u786e\u5b9a\u8be5\u5168\u57fa\u56e0\u7ec4NIPT\u6d4b\u5b9a\u7684\u6b63\u8d1f\u9884\u6d4b\u503c\u5e76\u8c03\u67e5\u5168\u57fa\u56e0\u7ec4NIPT\u662f\u5426\u5177\u6709\u6210\u672c\u6548\u76ca\u53ef\u80fd\u662f\u5f88\u6709\u8da3\u7684\u3002\u9488\u5bf9\u5404\u79cd\u6000\u5b55\u5e76\u53d1\u75c7\u7684\u5927\u91cf\u7814\u7a76\u53ef\u80fd\u4f1a\u63d0\u4f9b\u6709\u5173\u54ea\u4e9bRAA\u5e94\u5728NIPT\u4e2d\u8fdb\u884c\u7b5b\u67e5\u7684\u66f4\u591a\u4fe1\u606f\u3002\u6b64\u5916\uff0c\u8fd8\u9700\u8981\u8fdb\u4e00\u6b65\u7684\u7814\u7a76\u6765\u786e\u5b9a\u5168\u57fa\u56e0\u7ec4NIPT\u662f\u5426\u662f\u4e00\u79cd\u6709\u6548\u7684\u4ea7\u524d\u7b5b\u67e5\u9009\u62e9\uff0c\u4ee5\u68c0\u6d4b\u591a\u80ce\u6000\u5b55\u4e2d\u7f55\u89c1\u7684\u80ce\u513f\u5f02\u5e38\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><strong>5. \u7ed3\u8bba<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u603b\u800c\u8a00\u4e4b,\u672c\u7814\u7a76\u8868\u660e,\u5168\u57fa\u56e0\u7ec4NIPT\u68c0\u6d4b\u662f\u7b5b\u9009\u5b55\u5987ACA\u5b58\u5728\u7684\u6709\u6548\u975e\u4fb5\u5165\u6027\u65b9\u6cd5\u3002\u672c\u7814\u7a76\u5efa\u8bae\u4ec5\u7b5b\u9009\u6700\u663e\u8457\u7684\u67d3\u8272\u4f53\u4e09\u4f53\u548cSUA\u3002\u5728\u6cd5\u56fd\uff0c\u5efa\u8bae\u5728\u9ad8\u98ce\u9669MSS\u7ed3\u679c\u540e\uff0c\u5bf9\u6240\u6709\u5177\u6709\u6b63\u5e38\u8d85\u58f0\u6ce2\u68c0\u67e5\u7ed3\u679c\u7684\u5b55\u5987\u8fdb\u884c\u5168\u57fa\u56e0\u7ec4NIPT\u7b5b\u67e5\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A1%A5%E5%85%85%E8%B5%84%E6%96%99\"><\/span><strong>\u8865\u5145\u8d44\u6599<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>http:\/\/www.mdpi.com\/2077-0383\/9\/8\/2466\/s1,Table S 1:\u5728\u7ebf\u67e5\u770bA\u7ec4\u4e2d42\u4e2a\u5f02\u5e38\u6837\u672c\u7684\u6982\u8ff0\u3002<\/p>\n\n\n\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>\u6982\u5ff5\u5316\uff0cP.K.,L.L.\u3002\u548cJ.M.C\u3002;\u65b9\u6cd5\u5b66,P.K.,L.L.,A.B.\u3002(\u4e9a\u5386\u5c71\u5927\u00b7\u5fb7\u62c9\u8d1d\u7eb3\u5947) \u548cJ.M.C.\u3002;\u9a8c\u8bc1\uff0cP.K.,L.L.,A.B\u3002(\u4e9a\u5386\u5c71\u5927\u00b7\u5fb7\u62c9\u8d1d\u7eb3\u5947) \u548cJ.M.C.\u3002;\u8c03\u67e5\u3001P.K.\u3001L.L.\u3001A.L.\u3001D.T.\u3001L.B.\u3001V.D.\u3001V.C.\u3001M.-V.S.\u3001M.-P.B.\u3001L.G.\u3001G.L.G.\u3001V.S.\u3001H.L.D.\u3001H.L.\u3001M.-C.M.-P.\u3001A.B.\u3002(Aicha Boughalem) \uff0cM.V.,F.H.,A.B\u3002(\u4e9a\u5386\u5c71\u5927\u00b7\u5fb7\u62c9\u8d1d\u7eb3\u63d0) \u548cJ.M.C\u3002;Resource,P.K.,L.L.,A.L.,D.T.,A.B.\u3002(Aicha Boughalem) \uff0cM.V\u3002\u548cJ.M.C.;\u4f5c\u8005\u8349\u7a3f\u7684\u51c6\u5907\u5de5\u4f5c\u3002(\u4e9a\u5386\u5c71\u5927\u00b7\u5fb7\u62c9\u8d1d\u7eb3\u5947);\u5199\u4f5c\uff0c\u8bc4\u8bba\uff0c\u7f16\u8f91\uff0cP.K.,A.B.\u3002(\u4e9a\u5386\u5c71\u5927\u00b7\u5fb7\u62c9\u8d1d\u7eb3\u63d0) \u548cJ.M.C\u3002;\u76d1\u7763:P.K.,A.B\u3002(\u4e9a\u5386\u5c71\u5927\u00b7\u5fb7\u62c9\u8d1d\u7eb3\u5947) \u548cJ.M.C.\u3002;\u9879\u76ee\u7ba1\u7406\uff0cP.K.\u548cF.H.\u6240\u6709\u4f5c\u8005\u90fd\u5df2\u9605\u8bfb\u5e76\u540c\u610f\u53d1\u5e03\u7684\u624b\u7a3f\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AD%B9%E9%9B%86%E8%B5%84%E9%87%91\"><\/span><strong>\u7b79\u96c6\u8d44\u91d1:<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8fd9\u9879\u7814\u7a76\u6ca1\u6709\u5916\u90e8\u8d44\u52a9\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%87%B4%E8%B0%A2\"><\/span><strong>\u81f4\u8c22:<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f5c\u8005\u611f\u8c22Kristine Jinnett (Ilumina, Inc.)\u4e0eNicole Joye (Hopital Trousseau, Paris)\u548cElisabeth Simom (Fofation Lenval, Nice)\u5408\u4f5c\u6536\u96c6\u751f\u7269\u6837\u672c\uff0c\u4ee5\u521b\u5efa\u672c\u6587\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%A1%AE%E8%AE%A4%E5%88%A9%E7%9B%8A%E5%85%B3%E7%B3%BB\"><\/span><strong>\u786e\u8ba4\u5229\u76ca\u5173\u7cfb:<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4f5c\u8005\u58f0\u660e\u4e0d\u4f1a\u786e\u8ba4\u4efb\u4f55\u611f\u5174\u8da3\u7684\u5185\u5bb9\u3002<\/p>\n\n\n\n<h3 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><\/h3>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Huang, S.;Chang, C.;Cheng, P.;Hsiao, C.;Soong, Y.;Duan, T.First-trimestercombined screening\u53ef\u6709\u6548\u68c0\u6d4b\u6000\u5b5511~12\u5468\u65f6\u67d3\u8272\u4f53\u4e0d\u5e73\u8861\u6613\u4f4d\u3002\u611f\u5230\u540e\u6094\u3002Sci.2014\u300121\u3001594 -600. [CrossRef]<\/li>\n\n\n\n<li>Toring, N\u3002;Petersen,O.B.;Becher, N.;Vogel, I.;Uldbjerg, N.21, 18\u548c13\u9664\u67d3\u8272\u4f53\u4e09\u4f53\u5916\u7684\u67d3\u8272\u4f53\u4e09\u4f53\u6000\u5b55\u65e9\u671f\u7b5b\u67e5\u3002\u4ea7\u524d\u3002Diagn.2015\u300135\u3001612 -619. [CrossRef]<\/li>\n\n\n\n<li>Lindquist, A.;Poulton, A.;Halliday, J.;Hui, L\u3002\u4ea7\u524d\u8bca\u65ad\u68c0\u67e5\u548c\u65e9\u671f\u6000\u5b55\u7b5b\u67e5\u7ec4\u5408\u540e\u7684\u975e\u5178\u578b\u67d3\u8272\u4f53\u5f02\u5e38:\u5bf9\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u68c0\u67e5\u7684\u610f\u5916\u7c7b\u578b\u7684\u5f71\u54cd\u3002\u8d85\u58f0\u6ce2\u68c0\u67e5\u3002Gynecol.2018\u300151\u3001487 -492. [CrossRef]<\/li>\n\n\n\n<li>Bianchi,D.W.;Chiu,R.W.K.\u6000\u5b55\u671f\u95f4\u5faa\u73af\u65e0\u7ec6\u80deDNA\u7684\u6d4b\u5e8fN.Engl.J.Med.2018,379,464-473. [CrossRef] [PubMed]<\/li>\n\n\n\n<li>Fiorentino, F.;Bono, S.;Pizzuti, F.;Duca, S.;Polverari, A.;Faieta, M.;Baldi, M.;Diano, L.;Spinella, F.;\u5168\u57fa\u56e0\u7ec4\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u7b5b\u67e5\u7684\u4e34\u5e8a\u5e94\u7528\u3002\u4ea7\u524d\u3002Diagn.2017\u300137\u3001593 -601. [CrossRef] [PubMed]<\/li>\n\n\n\n<li>Liang, D., Lin, Y., Qiao, F., Li, H., Wang, Y., Zhang, J., Liu, A., Ji, X., Ma, D., Jiang, T.,\u5bf932,000\u591a\u540d\u5973\u6027\u8fdb\u884c\u65e0\u7ec6\u80deDNA\u7b5b\u67e5\u540e\u7684\u5468\u671f\u7ed3\u679c:\u6765\u81ea\u5355\u4e00\u7b2c\u4e09\u673a\u6784\u7684\u4e34\u5e8a\u8ffd\u8e2a\u6570\u636e\u3002Diagn.2018\u300138\u3001755 -764. [CrossRef]<\/li>\n\n\n\n<li>Akolekar, R.;Beta, J.;Picciarelli, G.;Ogilvie, C.;D\u2019Antonio, F\u3002\u7f8a\u819c\u7a7f\u523a\u672f\u548c\u7ed2\u6bdb\u53d6\u6837\u540e\u6d41\u4ea7\u76f8\u5173\u98ce\u9669:\u7cfb\u7edf\u8bc4\u4ef7\u548cMeta\u5206\u6790\u3002\u8d85\u58f0\u6ce2\u68c0\u67e5\u3002Gynecol.2015\u300145\u300116 -26. [CrossRef] [PubMed]<\/li>\n\n\n\n<li>Solomon,L.J.;Sotiriadis, A.;Wul.,C.B.;Odibo, A.;Akolekar, R.\u7f8a\u819c\u7a7f\u523a\u672f\u6216\u7ed2\u6bdb\u53d6\u6837\u540e\u6d41\u4ea7\u7684\u98ce\u9669:\u6587\u732e\u7684\u7cfb\u7edf\u56de\u987e\u548c\u6700\u65b0\u7684Meta\u5206\u6790\u3002\u8d85\u58f0\u6ce2\u68c0\u67e5\u3002Gynecol.2019\u300154\u3001442 -451. [CrossRef]<\/li>\n\n\n\n<li>Michael, T.;Natalia,S.-L.;James, M.;Jg, B.;Yuri, N\u3002;Andreas,S.W.;Gregor, S.Mid-trimester\u65e9\u671f\u80ce\u819c\u65e9\u7834 (PPROM) :\u75c5\u56e0\uff0c\u8bca\u65ad\uff0c\u5206\u7c7b\uff0c\u6cbb\u7597\u9009\u62e9\u548c\u7ed3\u679c\u7684\u5168\u7403\u63a8\u8350\u3002J.Perinat.Med.2018\u300146\u3001465 -488. [CrossRef]<\/li>\n\n\n\n<li>Cederholm, M.;Haglund, B.;Axelsson, O.\u7f8a\u819c\u7a7f\u523a\u672f\u548c\u4ea7\u524d\u6838\u578b\u7ed2\u6bdb\u53d6\u6837\u540e\u7684\u6bcd\u4f53\u5e76\u53d1\u75c7\u3002BJOG 2003\u3001110\u3001392 -399. [CrossRef]<\/li>\n\n\n\n<li>Norton,M.E.;Baer,R.J.;Wapner,R.J.;Kuppermann, M.;Jelli.e-Pawlowski,L.L.;\u8fde\u7eed\u7b5b\u9009\u68c0\u6d4bCurrier, RJCell-freeDNA\u4e0e\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\u3002\u7f8e\u56fdJ\u00b7Obstat Gynecol.2016\u3001214\u3001e1-e6. [CrossRef] [PubMed]<\/li>\n\n\n\n<li>Sehnert,A.J.;Rhees, B.;Comstock, D.;de Feo, E.;Heilek, G.;Burke, J.;\u901a\u8fc7\u5bf9\u6765\u81eaRava, RP\u3002\u6bcd\u4f53\u8840\u6db2\u7684\u65e0\u7ec6\u80de\u80ce\u513fDNA\u8fdb\u884c\u5927\u89c4\u6a21\u5e73\u884c\u6d4b\u5e8f\u5bf9\u80ce\u513f\u67d3\u8272\u4f53\u5f02\u5e38\u8fdb\u884c\u6700\u4f73\u68c0\u6d4b\u3002Clin.Chem.2011\u300157\u30011042 -1049. [CrossRef] [PubMed]<\/li>\n\n\n\n<li>Ehrich, M.;Deciu, C.;Zwiefelhofer, T.;Tynan, J.A.;Cagasan, L.;Tim, R.;Lu, V.;McCullough, R.;McCarthy, E.;Nygren,A.O.\u7b49\u3002\u901a\u8fc7\u5bf9\u6bcd\u4f53\u8840\u6db2\u4e2d\u7684DNA\u8fdb\u884c\u6d4b\u5e8f\u6765\u65e0\u521b\u68c0\u6d4b\u80ce\u513f21\u4e09\u4f53:\u4e34\u5e8a\u60c5\u51b5\u7684\u7814\u7a76\u3002\u7f8e\u56fd\u5965\u4f2f\u65af\u7279\u7279\u5987\u79d1\u30022011\u5e74204\u4eba\uff0ce1-e11\u3002[CrossRef] [PubMed]<\/li>\n\n\n\n<li>Jensen,T.J.;Zwiefelhofer, T.;Tim,R.C.;Dzakula, Z.;Kim,S.K.;Mazloom,A.R.;\u6731\uff0c Z.;Tynan, J.;Lu, T.;McLennan, G.;\u9ad8\u901a\u91cf\u5e73\u884c\u6d4b\u5e8f\u68c0\u6d4b\u6bcd\u4f53\u8840\u6d46\u4e2d\u80ce\u513f\u975e\u6574\u500d\u6027\u3002PLoS ONE 2013 8 e 57381. [CrossRef]<\/li>\n\n\n\n<li>Juneau, K.;Bogard,P.E.;Huang, S.;Mohseni, M.;Wang,E.T.;Ryvkin, P.;Kingsley\uff0cC.;Struble,C.A.;Oliphant, A.;\u57fa\u4e8eZahn,J.M.Microarray\u7684\u65e0\u7ec6\u80deDNA\u5206\u6790\u6539\u5584\u4e86\u65e0\u521b\u4ea7\u524d\u68c0\u67e5\u3002\u80ce\u513f\u8bca\u65ad\u3002Ther.2014\u300136\u3001282 -286. [CrossRef]<\/li>\n\n\n\n<li>Zimmermann, B.;Hill, M.;Gemelos, G.;Demko, Z.;Banjevic, M.;Baner, J.;Ryan, A.;Sigurjonsson, S.;Chopra, N.;Dodd, M.;\u7b49\u4f4d\u57fa\u56e0\u5ea7\u76ee\u6807\u6d4b\u5e8f\u7528\u4e8e13\u300118\u300121\u3001X\u548cY\u67d3\u8272\u4f53\u7684\u975e\u4fb5\u5165\u6027\u4ea7\u524d\u975e\u6574\u500d\u6027\u8bd5\u9a8c\u3002\u4ea7\u524d\u3002Diagn.2012\u300132\u30011233 -1241. [CrossRef]<\/li>\n\n\n\n<li>Pergament, E.,Cuckle, H.,Zimmermann, B.,Banjevic, M.,Sigurjonson, S.,Ryan, A.,Hall, M.P.,Dodd, M.,Lacroute, P.,Stosic, M.,\u7b49\u7b49\u3002\u5728\u9ad8\u98ce\u9669\u548c\u4f4e\u98ce\u9669\u961f\u5217\u4e2d\u57fa\u4e8e\u5355\u6838\u82f7\u9178\u591a\u6001\u6027\u7684\u975e\u4fb5\u5165\u6027\u9884\u7b5b\u9009\u3002\u5965\u4f2f\u65af\u7279\u7279\u3002\u5987\u4ea7\u79d1\u30022014\u3001124\u3001210 -218. [CrossRef]<\/li>\n\n\n\n<li>Fan,H.C.;Blumenfeld,Y.J.;Chitkara, U.;Hudgins, L.;\u901a\u8fc7Quake,S.R\u5bf9\u672b\u7aef\u6d4b\u5e8f\u5206\u6790\u80ce\u513f\u548c\u6bcd\u4f53\u65e0\u7ec6\u80deDNA\u7684\u5927\u5c0f\u5206\u5e03\u3002\u514b\u6797\u5316\u5b662010\u300156\u30011279 -1286. 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This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http:\/\/creativecommons.org\/licenses\/by\/4.0\/). <\/p>\n<\/div>\n","protected":false},"excerpt":{"rendered":"Pascale Kleinfinger1&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/?lang=zh-hans\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":898,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[14],"tags":[],"class_list":["post-46219","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-other-zh-hans"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/46219","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=46219"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/46219\/revisions"}],"predecessor-version":[{"id":109637,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/46219\/revisions\/109637"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/898"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=46219"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=46219"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=46219"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}