{"id":7589,"date":"2020-12-08T14:09:53","date_gmt":"2020-12-08T05:09:53","guid":{"rendered":"https:\/\/www2.hiro-clinic.or.jp\/?p=7589"},"modified":"2026-02-26T10:36:28","modified_gmt":"2026-02-26T01:36:28","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\/","title":{"rendered":"\u5e0c\u5c11\u306a\u5e38\u67d3\u8272\u4f53\u7570\u5e38\u3084\u30a2\u30f3\u30d0\u30e9\u30f3\u30b9\u306a\u69cb\u9020\u67d3\u8272\u4f53\u7570\u5e38\u306b\u5bfe\u3059\u308b\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u8a3a\u65ad\u306e\u5229\u7528\u306b\u3064\u3044\u3066\u306e\u5831\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>\u30e9\u30dc\u30e9\u30c8\u30ea\u30a2 CERBA, 7\/11 Rue de l&#8217;Equerre, 95310 Saint-Ouen-l&#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.)\n      <\/li>\n\n\n\n<li>\u5a66\u4eba\u79d1\u30aa\u30d6\u30b9\u30c6\u30c8\u30ea\u30c3\u30af\u3001\u30d5\u30e9\u30f3\u30b9\u30fb\u30c7\u30e5\u30dc\u30b9\u4e2d\u592e\u75c5\u9662\u3001\u30d5\u30e9\u30f3\u30b9\u30fb\u30c7\u30eb\u30fb\u30c7\u30eb\u30fb\u30aa\u30d6\u30fb\u30d5\u30e9\u30f3\u30b9\u300195300\u30dd\u30f3\u30c8\u30a4\u30ba\u3001\u30d5\u30e9\u30f3\u30b9\u30fblbidat@wanadoo.fr\n\u5a66\u4eba\u79d1\u30fb\u30aa\u30d6\u30b9\u30c6\u30c8\u30ea\u30c3\u30af\u3001CHU \u30ea\u30ec\u30012\u30a2\u30d6\u30aa\u30b9\u30ab\u30fc\u30e9\u30d6\u30ec\u30c3\u30c8\u300159000\u30ea\u30ec\u3001\u30d5\u30e9\u30f3\u30b9\u3001veronique.debarge@chru-lille.fr\n\u30d5\u30e9\u30f3\u30b9\u30fb\u30af\u30ec\u30c6\u30a4\u30eb\u5e02\u5185(\u7b2c\u56db\u5341\u6761\u3001\u7b2c\u4e5d\u767e\u56db\u5341\u3007\u6761)\u53ca\u3073Vanina.Castaigne@chicreteil.fr\n\u30d1\u30ea\u5927\u5b66\u533b\u5b66\u90e8\u300163 Rue Gabriel Peri, 94270 Le Kremlin-Bicetre, France; marie-victoire.senat@aphp.fr (M.-V.S.); alexandra.benachi@aphp.fr (A.B.)\n\u5a66\u4eba\u79d1-Obstetrique, Hopital Bicetre, 78 Rue du General Leclerc, 94270 Le Kremlin-Bicetre, France\n      <\/li>\n\n\n\n<li>\u7d30\u80de\u907a\u4f1d\u5b66\u3001\u8056\u30b8\u30e7\u30bb\u30d5\u75c5\u9662\u3001\u30d6\u30fc\u30eb\u30d0\u30fc\u30c9\u30fb\u30c9\u30fb\u30eb\u30fc\u30f4\u30a1\u30f3\u300113008 \u30de\u30eb\u30bb\u30a4\u30e6\u3001\u30d5\u30e9\u30f3\u30b9\u300126\u6b73\u3001mbrechard@hopital-saint-joseph.fr\n      <\/li>\n\n\n\n<li>\u30e1\u30c7\u30b7\u30f3\u80ce\u5150\u30b5\u30fc\u30d3\u30b9\u3001\u30db\u30fc\u30bf\u30eb\u30de\u30f3\u30c9\u30c8\u30eb\u30bd\u30fc\u3001APHP\u30bd\u30eb\u30dc\u30f3\u30cc\u5927\u5b66\u30c8\u30ed\u30bd\u30fc\u3001\u30d5\u30e9\u30f3\u30b9\u3001\u30d1\u30ea\u300175012\u30d1\u30ea\u3001\u30c9\u30af\u30bf\u30fc\u30a2\u30fc\u30ce\u30eb\u30c9\u30cd\u30c3\u30c8\u30bf\u30fc\u300126\u8857\u3001lucie.guilbaud@gmail.com\n      <\/li>\n\n\n\n<li>\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u30e1\u30c7\u30a3\u30b1\u30eb\u3001CHU de Poitiers, 2 rue de la Miletrie, CEDEX, CS 90577, 86021 Poitiers, France; gwenael.leguyader@chu-poitiers.fr\n      <\/li>\n\n\n\n<li>\u907a\u4f1d\u7684\u67d3\u8272\u4f53\u3001CHU Grenoble Alpes, Avenue Maquis du Gresivaudan, 38700 La Tronche, France; vsatre@chu-grenoble.fr\n      <\/li>\n\n\n\n<li>INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, Univ. \u30d5\u30e9\u30f3\u30b9\u300138700\u30e9\u30fb\u30c8\u30ed\u30f3\u30b7\u30e5\u3001\u30b0\u30ec\u30ce\u30d6\u30eb\u30fb\u30a2\u30eb\u30da\u30b9\u3001\u30a2\u30d9\u30cb\u30e5\u30fc\u30fb\u30de\u30ad\u30b9\u30fb\u30c9\u30fb\u30b0\u30ec\u30b7\u30d0\u30a6\u30c0\u30f3\u3001\u30b0\u30ec\u30ce\u30d6\u30eb\u30fb\u30a2\u30eb\u30da\u30b9\n      <\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/obgyn\/\">\u7523\u5a66\u4eba\u79d1<\/a>\u533b\u3001CHU Clermont Ferrand, and Place Lucie et Raymond Aubrac, 63003 Clermont Ferrand, France; helaurichesse@chu-clermontferrand.fr\n      <\/li>\n\n\n\n<li>Cylab, 6 Rue des sports BP 60348, CEDEX 1, 17001 La Rochelle, France; hlallaoui@cylab.fr\n      <\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30bb\u30f3\u30bf\u30fc\u3001Timone\u75c5\u9662\u3001264 Rue Saint-Pierre, 13005 Marseille, France; manca-pellissier@ap-hm.fr\n      <\/li>\n\n\n\n<li>\u5a66\u4eba\u79d1-Obstetrique, Hopital Antoine Beclere, AP-HP, 157 Rue de la Porte de Trivaux, 92140 Clamart, France\n      <\/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<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h4 class=\"wp-block-heading\">\u8981\u7d04:<\/h4>\n\n\n\n<p>\u975e\u5b9a\u578b\u80ce\u5150<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306f\u3001\u4ee5\u524d\u306b\u8a8d\u8b58\u3055\u308c\u3066\u3044\u305f\u3088\u308a\u3082\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u76f4\u8178\u80ce\u5150\u306e\u767a\u9054\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002 \u3053\u308c\u3089\u306e\u975e\u5b9a\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>(ACA)\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u975e\u4fb5\u8972\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>)\u306e\u305f\u3081\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u6226\u7565\u3092\u63d0\u6848\u3057\u305f\u3002 2\u3064\u306e\u30b5\u30f3\u30d7\u30eb\u30b3\u30db\u30fc\u30c8\u3092\u691c\u67fb\u3057\u305f\u3002 \u5206\u6790\u6027\u80fd\u306f\u3001ACA\u3092\u7528\u3044\u305f192\u306e\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u5316\u8840\u6f3f\u30b5\u30f3\u30d7\u30eb\u3001ACA\u3092\u7528\u3044\u305f42\u304a\u3088\u3073\u7528\u3044\u306a\u3044150\u304b\u3089\u306a\u308b\u30b3\u30db\u30fc\u30c8A\u3092\u7528\u3044\u3066\u6e2c\u5b9a\u3057\u305f\u3002 \u8ffd\u52a0\u306e\u4fb5\u8972\u7684\u8a3a\u65ad\u624b\u6280\u306e\u5272\u5408\u306f\u3001\u30eb\u30fc\u30c1\u30f3\u306eNIPT\u306b\u7d39\u4ecb\u3055\u308c\u305f\u598a\u5a663097\u4eba\u304b\u3089\u306a\u308b\u30b3\u30db\u30fc\u30c8B\u3092\u7528\u3044\u3066\u6c7a\u5b9a\u3057\u305f\u3002 \u30b3\u30db\u30fc\u30c8A\u306e192\u306e\u30b5\u30f3\u30d7\u30eb\u306e\u3046\u3061\u30014\u3064\u306e\u6700\u521d\u306e\u691c\u67fb\u5931\u6557\u30686\u3064\u306e\u4e0d\u4e00\u81f4\u30b3\u30fc\u30eb\u304c\u3042\u308a\u3001\u5168\u4f53\u7684\u306a\u611f\u5ea6\u306f88.1%(37\/42; CI 75.00\uff5e94.81)\u3001\u7279\u7570\u5ea6\u306f99.3%(145\/146; CI 96.22\uff5e99.88)\u3067\u3042\u3063\u305f\u3002 \u30b3\u30db\u30fc\u30c8B\u3067\u306f\u300190\u4ef6\u306efrst-pass failure(2.9%)\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002 \u6709\u610f\u306a\u4e0d\u5747\u8861\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u304a\u3088\u3073\u30c8\u30ea\u30bd\u30df\u30fc8\u30019\u300112\u300114\u300115\u300116\u3001\u304a\u3088\u307322\u306b\u9650\u5b9a\u3057\u305f\u5834\u5408\u3001\u7570\u5e38\u3092\u793a\u3059\u967d\u6027\u7d50\u679c\u306e\u5272\u5408\u306f\u30011.2%(36\/3007)\u304a\u3088\u30730.57%(17\/3007)\u3067\u3042\u3063\u305f\u3002 \u3053\u308c\u3089\u306e\u7d50\u679c\u306f\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u304c\u3001\u8a31\u5bb9\u53ef\u80fd\u306a\u611f\u5ea6\u304a\u3088\u3073\u4fb5\u8972\u7684\u691c\u67fb\u306e\u308f\u305a\u304b\u306a\u5897\u52a0\u3067\u3001\u7279\u306b\u6bcd\u4f53\u8840\u6e05\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5f8c\u306b\u30ea\u30b9\u30af\u304c\u5897\u52a0\u3057\u3001\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u69cb\u9020\u7684\u7570\u5e38\u304a\u3088\u3073\u6700\u3082\u81e8\u5e8a\u7684\u306b\u610f\u5473\u306e\u3042\u308b\u30c8\u30ea\u30bd\u30df\u30fc\u306b\u9650\u5b9a\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u3001ACA\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u304c\u53ef\u80fd\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3059\u3002<\/p>\n\n\n\n<h4 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9:<\/h4>\n\n\n\n<p>\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>;\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u6226\u7565;\u975e\u5b9a\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>;\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u7570\u6570\u6027;\u69cb\u9020\u7684\u4e0d\u5747\u8861\u7570\u5e38;\u6b20\u5931;\u91cd\u8907;\u611f\u5ea6;\u7279\u7570\u5ea6;\u967d\u6027\u7684\u4e2d\u7387; VeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2<\/p>\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_2 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/#1_%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\" >1. \u306f\u3058\u3081\u306b<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-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\/#2_%E5%AE%9F%E9%A8%93%E9%83%A8\" >2. \u5b9f\u9a13\u90e8<\/a><\/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\/#3%E7%B5%90%E6%9E%9C\" >3.\u7d50\u679c<\/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\/#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-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\/#5_%E7%B5%90%E8%AB%96\" >5. \u7d50\u8ad6<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/#%E8%A3%9C%E8%B6%B3%E8%B3%87%E6%96%99\" >\u88dc\u8db3\u8cc7\u6599<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/strategy-for-use-of-genome-wide-non-invasive-prenatal-testing-for-rare-autosomal-aneuploidies-and-unbalanced-structural-chromosomal-anomalies\/#%E8%91%97%E8%80%85%E3%81%AE%E8%B2%A2%E7%8C%AE\" >\u8457\u8005\u306e\u8ca2\u732e:<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-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\/#%E8%B3%87%E9%87%91%E8%AA%BF%E9%81%94\" >\u8cc7\u91d1\u8abf\u9054:<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-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\/#%E8%AC%9D%E8%BE%9E\" >\u8b1d\u8f9e:<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-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\/#%E5%88%A9%E5%AE%B3%E9%96%A2%E4%BF%82%E3%81%AE%E7%A2%BA%E8%AA%8D\" >\u5229\u5bb3\u95a2\u4fc2\u306e\u78ba\u8a8d:<\/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\/#%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\" >\u53c2\u8003\u6587\u732e<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_%E3%81%AF%E3%81%98%E3%82%81%E3%81%AB\"><\/span>1. \u306f\u3058\u3081\u306b<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3044\u304f\u3064\u304b\u306e\u30c6\u30b9\u30c8\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u5229\u7528\u53ef\u80fd\u3067\u3059\u3002\u6700\u3082\u4e00\u822c\u7684\u306a\u306e\u306f\u3001\u7b2c1\u671f\u307e\u305f\u306f\u7b2c2\u671f\u306e\u4f1d\u7d71\u7684\u306a\u6bcd\u4f53\u8840\u6e05\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08MSS\uff09\u3067\u3042\u308a\u3001\u3053\u308c\u306f\u901a\u5e38\u3001\u4e00\u822c\u7684\u306a\u80ce\u5150\u306e\u7570\u6570\u4f53\u7570\u5e38\uff08\u30c8\u30ea\u30bd\u30df\u30fc21\u300118\u300113\uff09\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3057\u3001\u3055\u3089\u306a\u308b\u691c\u67fb\u304c\u5fc5\u8981\u304b\u3069\u3046\u304b\u3092\u5224\u65ad\u3059\u308b\u305f\u3081\u306e\u30ea\u30b9\u30af\u30b9\u30b3\u30a2\u3092\u63d0\u4f9b\u3059\u308b\u3082\u306e\u3067\u3042\u308b\u3002\u975e\u5b9a\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\uff08ACA\uff09\u3001\u3059\u306a\u308f\u3061\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u7570\u6570\u4f53\u7570\u5e38\uff08RAA\uff09\u3084\u69cb\u9020\u7684\u4e0d\u5747\u8861\u7570\u5e38\uff08SUA\uff09\u306e\u30ea\u30b9\u30af\u306f\u3001MSS\u306e\u30ea\u30b9\u30af\u30b9\u30b3\u30a2\u306b\u5fdc\u3058\u3066\u5897\u52a0\u3059\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059[1-3]\u3002\u598a\u5a2011\u9031\u304b\u308913\u9031\u306e\u9593\u306b\u6e2c\u5b9a\u3055\u308c\u305f\u7d4c\u5c3f\u9053\u534a\u900f\u660e\u5ea6\u3092\u542b\u3080\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u306f\u3001\u3044\u304f\u3064\u304b\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u6700\u8fd1\u3067\u306f\u3001\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u304c\u5229\u7528\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u3002NIPT\u306f\u3001\u6bcd\u4f53\u306e\u8840\u6f3f\u30b5\u30f3\u30d7\u30eb\u4e2d\u306e\u5341\u5206\u306a\u80ce\u5150\u5206\u753b\uff08FF\uff09\u3092\u78ba\u4fdd\u3059\u308b\u305f\u3081\u306b\u3001\u4e00\u822c\u7684\u306b\u598a\u5a2010\u9031\u4ee5\u964d\u306e\u598a\u5a20\u306e\u3069\u306e\u6bb5\u968e\u3067\u3082\u5b9f\u65bd\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059[4]\u3002NIPT\u306f\u901a\u5e38\u3001\u4e00\u822c\u7684\u306a\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u4f7f\u7528\u3055\u308c\u307e\u3059\u3002ACA\u306e\u305f\u3081\u306e\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306f\u3001\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\uff08WGS\uff09\u3068\u89e3\u6790\u3092\u4f7f\u7528\u3057\u305fNIPT\u30a2\u30c3\u30bb\u30a4\u3067\u3082\u53ef\u80fd\u3067\u3059[5,6]\u3002\u80ce\u5150\u306e\u6838\u578b\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3092\u884c\u3046\u305f\u3081\u306e\u7d68\u6bdb\u819c\u7d68\u6bdb\u819c\u30b5\u30f3\u30d7\u30ea\u30f3\u30b0\uff08CVS\uff09\u3084\u7f8a\u819c\u7a7f\u523a\u306a\u3069\u306e\u4fb5\u8972\u7684\u306a\u51e6\u7f6e\u306f\u8a3a\u65ad\u7684\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u306e\u30ea\u30b9\u30af\u306f\u5c0f\u3055\u304f[7,8]\u3001\u819c\u306e\u65e9\u671f\u7834\u88c2\u3084\u7d68\u6bdb\u819c\u7f8a\u819c\u708e\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093[9,10]\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u81e8\u5e8a\u7814\u7a76\u3067\u306f\u3001\u5f93\u6765\u306eMSS\u30a2\u30d7\u30ed\u30fc\u30c1\u3088\u308a\u3082NIPT\u306e\u6027\u80fd\u304c\u5411\u4e0a\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059[11]\u3002NIPT\u30a2\u30c3\u30bb\u30a4\u3067\u306f\u3001\u4e3b\u306b\u5927\u898f\u6a21\u4e26\u5217WGS [12-14]\u3001\u6a19\u7684\u5316<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3[15]\u3001SNP\u30d9\u30fc\u30b9\u306e\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0[16,17]\u306a\u3069\u3001\u3044\u304f\u3064\u304b\u306e\u7570\u306a\u308b\u6280\u8853\u304c\u4e00\u822c\u7684\u306b\u4f7f\u7528\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5927\u898f\u6a21\u4e26\u5217\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u6280\u8853\u306f\u3001\u30b7\u30f3\u30b0\u30eb\u30a8\u30f3\u30c9\u307e\u305f\u306f\u30da\u30a2\u30a8\u30f3\u30c9\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3092\u4f7f\u7528\u3057\u3001\u30da\u30a2\u30a8\u30f3\u30c9\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3067\u306f\u30d5\u30e9\u30b0\u30e1\u30f3\u30c8\u30b5\u30a4\u30ba\u3068\u4f4d\u7f6e\u306e\u4e21\u65b9\u3092\u6c7a\u5b9a\u3067\u304d\u307e\u3059\u3002NIPT\u306e\u6027\u80fd\u306f\u65b9\u6cd5\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u5834\u5408\u304c\u3042\u308a\u3001\u6700\u8fd1\u306e\u30e1\u30bf\u89e3\u6790[20]\u3067\u306f\u3001NIPT\u306e\u5931\u6557\u7387\u306f\u65b9\u6cd5\u306b\u3088\u3063\u30660.1\uff5e6.3%\u3067\u3042\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059[21-23]\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u3001\u691c\u67fb\u30e1\u30cb\u30e5\u30fc\u306e\u30aa\u30d7\u30b7\u30e7\u30f3\u306b\u306f\u3001\u6027\u67d3\u8272\u4f53\u7570\u6570\u4f53 [24,25]\u3001\u9078\u629e\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\/\u91cd\u8907 [26,27]\u3001\u304a\u3088\u3073ACA [5,6,28]\u304c\u542b\u307e\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002ACA\u306e\u65b9\u304c\u7a00\u3067\u306f\u3042\u308b\u304c\u3001NIPT\u7814\u7a76\u3067\u306f\u3001SUA\u3067\u306f0.1\uff05\u3001RAA\u3067\u306f0.34\uff05\u306e\u30b9\u30af\u30ea\u30fc\u30f3\u967d\u6027\u7387\u304c\u793a\u3055\u308c\u3066\u3044\u308b[29]\u3002Fiorentino\u3089\u306b\u3088\u308b2017\u5e74\u306e\u7814\u7a76[5]\u3067\u306f\u3001\u598a\u5a66\u306e\u5927\u898f\u6a21\u30b3\u30db\u30fc\u30c8\u306b\u304a\u3051\u308b\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u7121\u7d30\u80deDNA\u89e3\u6790\u306b\u3088\u308a\u3001\u9ad8\u3044\u7279\u7570\u6027\u3092\u7dad\u6301\u3057\u3064\u3064\u3001\u5f93\u6765\u306eNIPT\u3067\u306f\u691c\u51fa\u3067\u304d\u306a\u304b\u3063\u305f\u81e8\u5e8a\u7684\u306b\u95a2\u9023\u6027\u306e\u3042\u308b\u4e0d\u5747\u8861\u304c\u540c\u5b9a\u3055\u308c\u305f\u3002Pescia\u3089\u306e\u7814\u7a76[30]\u3067\u306f\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u306aNIPT\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u4f7f\u7528\u304c\u80ce\u5150\u306e\u7570\u5e38\u306e\u691c\u51fa\u306e\u5897\u52a0\u306b\u3064\u306a\u304c\u308a\u3001\u3053\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3067\u540c\u5b9a\u3055\u308c\u305f\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u30c8\u30ea\u30bd\u30df\u30fc\u3068CNV\u304c\u80ce\u5150\u306e\u75c5\u7406\u306e\u91cd\u8981\u306a\u539f\u56e0\u3067\u3042\u308b\u3053\u3068\u3082\u660e\u3089\u304b\u306b\u3057\u307e\u3057\u305f\u3002\u30d5\u30e9\u30f3\u30b9\u3067\u306f\u3001\u3053\u308c\u3089\u306eACA\u306f\u3059\u3079\u3066\u306e\u51fa\u751f\u524d\u4e0d\u5747\u8861<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e12.25\uff05\u3001\u304a\u3088\u3073\u3059\u3079\u3066\u306e\u51fa\u751f\u524d\u6838\u578b\u306e2.5\uff05\u3092\u5360\u3081\u3066\u3044\u308b[31]\u3002\u3053\u308c\u3089\u306eACA\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u3001\u5b50\u5bae\u5185\u80ce\u5150\u6b7b\u4ea1\u3001\u77e5\u7684\u767a\u9054\u969c\u5bb3\u3001\u5947\u5f62\u75c7\u5019\u7fa4\u306a\u3069\u306e\u4e88\u5f8c\u4e0d\u826f\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u308b[29,32-35]\u3002<\/p>\n\n\n\n<p>\u30d5\u30e9\u30f3\u30b9\u3067\u306f\u3001NIPT\u306f\u30c8\u30ea\u30bd\u30df\u30fc21\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u307f\u306b\u511f\u9084\u3055\u308c\u307e\u3059\u3002NIPT\u306f\u3001MSS\u30ea\u30b9\u30af\u30b9\u30b3\u30a2\u304c1\/51\uff5e1\/1000\u306e\u9593\u306eMSS\u306b\u7d9a\u304f\u7b2c2\u5c64\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u3057\u3066\u3001\u307e\u305f\u3001\u591a\u80ce\u598a\u5a20\u306e\u5973\u6027\u3001\u4ee5\u524d\u306b\u30c8\u30ea\u30bd\u30df\u30fc21\u306e\u5f71\u97ff\u3092\u53d7\u3051\u305f\u598a\u5a20\u306e\u65e2\u5f80\u6b74\u306e\u3042\u308b\u5973\u6027\u3001\u307e\u305f\u306f\u3069\u3061\u3089\u304b\u306e\u89aa\u304c21\u756a\u67d3\u8272\u4f53\u306b\u95a2\u4e0e\u3059\u308b\u30ed\u30d0\u30fc\u30c8\u30bd\u30f3\u8ee2\u5ea7\u306e\u30ad\u30e3\u30ea\u30a2\u3067\u3042\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u5973\u6027\u306e\u305f\u3081\u306e\u7b2c1\u5c64\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u3057\u3066\u5b9f\u65bd\u3055\u308c\u307e\u3059\u3002\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u308b\u5834\u5408\u3084\u3001MSS\u30ea\u30b9\u30af\u30b9\u30b3\u30a2\u304c1\/50\u3092\u8d85\u3048\u308b\u5834\u5408\u306b\u306f\u3001\u8a3a\u65ad\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u7814\u7a76\u306e\u76ee\u7684\u306f\u3001(1) ACA\u306e\u691c\u51fa\u306e\u305f\u3081\u306eVeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2\u30a2\u30c3\u30bb\u30a4\u306b\u3088\u308b\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u7121\u7d30\u80deDNA\u5206\u6790\u306e\u6027\u80fd\u3092\u6c7a\u5b9a\u3059\u308b\u3053\u3068\u3001\u304a\u3088\u3073(2) ACA\u306e\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u6226\u7565\u3092\u6c7a\u5b9a\u3059\u308b\u3053\u3068\u3067\u3057\u305f\u3002\u79c1\u305f\u3061\u306e\u7814\u7a76\u3067\u306f\u3001\u3053\u306e\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u30a2\u30c3\u30bb\u30a4\u306f\u3001\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u7570\u6570\u4f53\u304a\u3088\u30737 Mb\u4ee5\u4e0a\u306e\u30bb\u30b0\u30e1\u30f3\u30c8\u7570\u6570\u4f53\u306e\u691c\u51fa\u306b\u9ad8\u3044\u7cbe\u5ea6\u3092\u793a\u3057\u3001\u8ffd\u52a0\u306e\u78ba\u8a8d\u7684\u4fb5\u8972\u691c\u67fb\u306e\u5897\u52a0\u3092\u6700\u5c0f\u9650\u306b\u6291\u3048\u3089\u308c\u308b\u3053\u3068\u304c\u308f\u304b\u308a\u307e\u3057\u305f\u3002\u6211\u3005\u306f\u307e\u305f\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u6700\u3082\u91cd\u8981\u306a\u67d3\u8272\u4f53\u30c8\u30ea\u30bd\u30df\u30fc\u304a\u3088\u3073SUA\u306b\u9650\u5b9a\u3057\u3001\u6bcd\u4f53\u8840\u6e05\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5f8c\u306b\u30ea\u30b9\u30af\u306e\u9ad8\u3044\u5973\u6027\u306b\u3082\u63d0\u4f9b\u3059\u308b\u3068\u3044\u3046\u6226\u7565\u3082\u63d0\u6848\u3057\u3066\u3044\u308b\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E5%AE%9F%E9%A8%93%E9%83%A8\"><\/span>2. \u5b9f\u9a13\u90e8<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u7814\u7a76\u306b\u306f\u30012\u3064\u306e\u7814\u7a76\u30b3\u30db\u30fc\u30c8\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u30b3\u30db\u30fc\u30c8A\u306f\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u30a2\u30c3\u30bb\u30a4\u306e\u611f\u5ea6\u3068\u7279\u7570\u5ea6\u3092\u6c7a\u5b9a\u3059\u308b\u305f\u3081\u306b\u53ce\u96c6\u3055\u308c\u305f\u8840\u6f3f\u30b5\u30f3\u30d7\u30eb\u306e\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u3067\u69cb\u6210\u3055\u308c\u305f\u3002\u7570\u5e38\u30b5\u30f3\u30d7\u30eb\u306f\u3001\u4fb5\u8972\u7684\u624b\u8853\u3092\u53d7\u3051\u305f\u60a3\u8005\u3067\u3001\u6838\u578b\u307e\u305f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\uff08CMA\uff09\u306b\u3088\u308a\u3001\u4e00\u822c\u7684\u306a\u30c8\u30ea\u30bd\u30df\u30fc\uff08\u30c8\u30ea\u30bd\u30df\u30fc21\u300118\u300113\uff09\u307e\u305f\u306f\u6027\u67d3\u8272\u4f53\u7570\u6570\u6027\u4ee5\u5916\u306e\u7570\u5e38\u304c\u660e\u3089\u304b\u306b\u306a\u3063\u305f\u60a3\u8005\u304b\u3089\u30012014\u5e74\u304b\u30892019\u5e74\u306e\u9593\u306b\u53ce\u96c6\u3055\u308c\u305f\uff08\u88dc\u8db3\u8868S1\uff09\u3002\u67d3\u8272\u4f53\u578b\/<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306b\u7570\u5e38\u306e\u3042\u308b\u3059\u3079\u3066\u306e\u60a3\u8005\u306f\u3001\u7570\u5e38\u306e\u7a2e\u985e\u3001\u4fb5\u8972\u7684\u51e6\u7f6e\u306e\u9069\u5fdc\u3001\u307e\u305f\u306f\u598a\u5a20\u5e74\u9f62\u306b\u57fa\u3065\u304f\u9078\u629e\u3092\u305b\u305a\u306b\u7814\u7a76\u3078\u306e\u53c2\u52a0\u3092\u7533\u3057\u51fa\u305f\u3002\u3053\u306e\u30b0\u30eb\u30fc\u30d7\u306f\u3001\u79c1\u305f\u3061\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u5ba4\u3067\u906d\u9047\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u4e2d\u304b\u3089\u9078\u629e\u3055\u308c\u3066\u3044\u306a\u3044\u30b0\u30eb\u30fc\u30d7\u3092\u8868\u3057\u3066\u3044\u307e\u3059\u3002\u30b3\u30db\u30fc\u30c8A\u306e\u5bfe\u7167NIPT\u30b5\u30f3\u30d7\u30eb\u306f\u30012019\u5e744\u6708\u304b\u30897\u6708\u306b\u53ce\u96c6\u3055\u308c\u305f\u6700\u521d\u306e\u975e\u9078\u629e148\u30b5\u30f3\u30d7\u30eb\u3067\u3001\u5171\u901a\u30c8\u30ea\u30bd\u30df\u30fc\u307e\u305f\u306f\u6027\u67d3\u8272\u4f53\u7570\u6570\u6027\u4ee5\u5916\u306e\u7570\u5e38\u306e\u306a\u3044\u6838\u578b\/<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u7d50\u679c\u3092\u6709\u3059\u308b\u3082\u306e\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u305f\u3002NIPT\u30b5\u30f3\u30d7\u30eb\u306f\u3001\u4fb5\u8972\u624b\u8853\u3068\u540c\u6642\u306b\u63a1\u53d6\u3057\u305f\u3002\u7f8a\u6c34\u306e\u6838\u578b\u304c\u6b63\u5e38\u3067\u3001\u80ce\u76e4\uff08\u7d68\u6bdb\u82bd\u7d30\u80de\uff09\u306b\u9650\u5c40\u3057\u305f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u75c7\u3068\u8a3a\u65ad\u3055\u308c\u305f\u305f\u3081\u3001\u6838\u578b\u306e\u7d50\u679c\u306e\u5f8c\u306b2\u3064\u306e\u88dc\u8db3\u7684\u306aNIPT\u30b5\u30f3\u30d7\u30eb\u304c\u63a1\u53d6\u3055\u308c\u305f\u3002<\/p>\n\n\n\n<p>\u30b3\u30db\u30fc\u30c8B\u306f\u3001\u3055\u3089\u306b\u300c\u7d39\u4ecb\u8005\u96c6\u56e3\u300d\u3068\u547c\u3070\u308c\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u306e\u4f7f\u7528\u5f8c\u306b\u8ffd\u52a0\u306e\u4fb5\u8972\u7684\u8a3a\u65ad\u51e6\u7f6e\u3092\u884c\u3046\u53ef\u80fd\u6027\u306e\u3042\u308b\u5272\u5408\u3092\u6c7a\u5b9a\u3059\u308b\u3053\u3068\u3092\u76ee\u7684\u3068\u3057\u3066\u53ce\u96c6\u3055\u308c\u307e\u3057\u305f\u3002\u3053\u308c\u306f\u3001\u81e8\u5e8a\u691c\u67fb\u306e\u4e00\u74b0\u3068\u3057\u3066\u4e00\u822c\u7684\u306a\u30c8\u30ea\u30bd\u30df\u30fc\u306b\u5bfe\u3059\u308b\u30eb\u30fc\u30c1\u30f3\u306eNIPT\u3092\u53d7\u3051\u3066\u3044\u308b\u60a3\u8005\u304b\u3089\u306e\u975e\u9078\u629e\u30b5\u30f3\u30d7\u30eb\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u89e3\u6790\u306f\u305d\u306e\u5f8c\u3001\u3053\u306e\u7814\u7a76\u306e\u305f\u3081\u306b\u5b9f\u65bd\u3055\u308c\u307e\u3057\u305f\u3002\u60a3\u8005\u306f\u975e\u4ecb\u5165\u7814\u7a76\u306e\u307f\u306b\u540c\u610f\u3057\u305f\u305f\u3081\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u89e3\u6790\u306e\u7d50\u679c\u306f\u5831\u544a\u3055\u308c\u305a\u3001\u80ce\u5150\u306e\u6838\u578b\u3068\u81e8\u5e8a\u8ee2\u5e30\u306b\u95a2\u3059\u308b\u66f4\u306a\u308b\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u60c5\u5831\u3092\u5f97\u308b\u305f\u3081\u306b\u60a3\u8005\u306b\u9023\u7d61\u3059\u308b\u3053\u3068\u306f\u3042\u308a\u307e\u305b\u3093\u3067\u3057\u305f\u3002\u3053\u308c\u3089\u306e\u30b5\u30f3\u30d7\u30eb\u306f\u30012019\u5e743\u6708\u304b\u30898\u6708\u306e\u9593\u306b\u53ce\u96c6\u3057\u305f\u3002\u4e21\u30b3\u30db\u30fc\u30c8\u306e\u3059\u3079\u3066\u306e\u30b5\u30f3\u30d7\u30eb\u306f\u5358\u80ce\u598a\u5a20\u306e\u3082\u306e\u3067\u3042\u3063\u305f\u3002<\/p>\n\n\n\n<p>\u30b3\u30db\u30fc\u30c8A\u306b\u3064\u3044\u3066\u306f\u3001\u6a19\u6e96\u7684\u306a\u6280\u8853\u3092\u7528\u3044\u3066\u6838\u578b\u6c7a\u5b9a\u3092\u884c\u3063\u305f\uff1ain situ\u57f9\u990a\uff08Amniomax\u00ae\uff09\u307e\u305f\u306f\u30c8\u30ea\u30d7\u30b7\u30f3\u57f9\u990a\uff08\u7f8a\u6c34\u306e\u5834\u5408\u306fAmniomedium 2\u00ae\u3001trophoblastic\u57f9\u990a\u306e\u5834\u5408\u306fAmniomax\u00ae\uff09\u3001\u4f4e\u5f35\u6027\u30b7\u30e7\u30c3\u30af\uff08Hanks\u00ae\u304a\u3088\u3073MgCl2\uff09\u3001\u9162\u9178\/\u30e1\u30bf\u30ce\u30fc\u30eb\u306b\u3088\u308b\u56fa\u5b9a\u3001\u304a\u3088\u3073RHG\u30d0\u30f3\u30c7\u30a3\u30f3\u30b0\u30022\u3064\u306e\u57f9\u990a\u7269\u306e\u5c11\u306a\u304f\u3068\u308215\u500b\u306e\u30e1\u30bf\u30d5\u30a7\u30fc\u30b9\u3092\u5206\u6790\u3057\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306f\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u30a2\u30ec\u30a4Cytoscan\u00ae 750K\uff08SNP Affymetrix\u3001750K\u30de\u30fc\u30ab\u30fc\uff09\u3092\u7528\u3044\u3066\u3001Affymetrix\u306e\u30d7\u30ed\u30c8\u30b3\u30eb\u306b\u5f93\u3063\u3066\u5b9f\u65bd\u3057\u305f\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u3059\u3079\u3066\u306e\u30b5\u30f3\u30d7\u30eb\u3092\u3001CE-IVD\u30de\u30fc\u30af\u4ed8\u304dVeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2\u30a2\u30c3\u30bb\u30a4\uff08Illumina, Inc. \u3053\u306e\u30a2\u30c3\u30bb\u30a4\u306f\u3001\u30b2\u30ce\u30e0\u5168\u4f53\u306e\u7570\u5e38\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306b\u3001PCR\u30d5\u30ea\u30fc\u306e\u30da\u30a2\u30a8\u30f3\u30c9WGS\u30a2\u30d7\u30ed\u30fc\u30c1\u3092\u4f7f\u7528\u3059\u308b\u3002\u624b\u77ed\u306b\u8a00\u3046\u3068\u3001\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u3068\u7d39\u4ecb\u8005\u96c6\u56e3\u306e\u4e21\u65b9\u304b\u3089\u306e\u8840\u6f3f\u30b5\u30f3\u30d7\u30eb\u3092\u51cd\u7d50\u3057\u305f\u5f8c\u3001\u8840\u6f3f\u3092\u89e3\u51cd\u3057\u3001\u7121\u7d30\u80de\uff08cf\uff09DNA\u62bd\u51fa\u30b9\u30c6\u30c3\u30d7\u3092\u884c\u3063\u305f\u3002\u7cbe\u88fd\u3055\u308c\u305fcfDNA\u65ad\u7247\u306f\u3001VeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Microlab STAR\u30b7\u30b9\u30c6\u30e0\uff08\u30b9\u30a4\u30b9\u3001\u30cf\u30df\u30eb\u30c8\u30f3\uff09\u3092\u4f7f\u7528\u3057\u3066\u81ea\u52d5\u5316\u3055\u308c\u305f\u30e9\u30a4\u30d6\u30e9\u30ea\u30fc\u8abf\u88fd\u3092\u884c\u3044\u3001\u305d\u306e\u5f8c\u3001\u5b9a\u91cf\u3068\u30e9\u30a4\u30d6\u30e9\u30ea\u30fc\u306e\u30d7\u30fc\u30eb\u3092\u884c\u3063\u305f\u3002\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u5316\u3055\u308c\u305f\u30b5\u30f3\u30d7\u30eb\u306f\u3001\u7d39\u4ecb\u8005\u96c6\u56e3\u306e\u30b5\u30f3\u30d7\u30eb\u306b\u4f7f\u7528\u3055\u308c\u305f\u306e\u3068\u540c\u3058\u30d5\u30ed\u30fc\u30bb\u30eb\u4e0a\u3067\u8a66\u9a13\u3055\u308c\u3001\u30d5\u30ed\u30fc\u30bb\u30eb\u3042\u305f\u308a\u6700\u59274\u3064\u306e\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u30b5\u30f3\u30d7\u30eb\u304c\u4f7f\u7528\u3055\u308c\u307e\u3057\u305f\u3002\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9\u89e3\u6790\u306f\u3001VeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2\u30b7\u30b9\u30c6\u30e0\u30b5\u30fc\u30d0\u30fc\u3092\u4f7f\u7528\u3057\u3066\u5b9f\u65bd\u3057\u3001\u30b5\u30f3\u30d7\u30eb\u306f\u3001RAA\u307e\u305f\u306fSUAs\u22677 Mb\u306e\u5b58\u5728\u306b\u3064\u3044\u3066\u3001\u7570\u5e38\u691c\u51fa\u307e\u305f\u306f\u7570\u5e38\u691c\u51fa\u3055\u308c\u306a\u304b\u3063\u305f\u3082\u306e\u3068\u3057\u3066\u5206\u985e\u3057\u305f\u3002\u30a2\u30c3\u30bb\u30a4\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2\u306f\u3001\u30b3\u30fc\u30eb\u3092\u884c\u3046\u3053\u3068\u304c\u3067\u304d\u308b\u304b\u3069\u3046\u304b\u3092\u6c7a\u5b9a\u3059\u308b\u305f\u3081\u306b\u80ce\u5150\u5206\u753b\u3068\u30ab\u30d0\u30ec\u30c3\u30b8\u60c5\u5831\u306e\u4e21\u65b9\u3092\u8003\u616e\u306b\u5165\u308c\u3001\u4f4e\u80ce\u5150\u5206\u753b\u3067\u306e\u6b63\u78ba\u306a\u30b3\u30fc\u30eb\u3092\u53ef\u80fd\u306b\u3059\u308b\u3001\u500b\u5225\u5316\u80ce\u5150\u30a2\u30cc\u30d7\u30ea\u30b7\u30c6\u30a3\u4fe1\u983c\u6027\u8a66\u9a13\uff08iFACT\uff09\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u308b\u52d5\u7684\u306a\u3057\u304d\u3044\u5024\u30e1\u30c8\u30ea\u30c3\u30af\u3092\u4f7f\u7528\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7570\u306a\u308b\u60a3\u8005\u96c6\u56e3\u9593\u306e\u80ce\u5150\u5206\u753b\u3068\u598a\u5a20\u5e74\u9f62\u306e\u6bd4\u8f03\u306f t \u691c\u5b9a\u3092\u7528\u3044\u3066\u884c\u3063\u305f\uff1b&lt;0.05 \u306e p \u5024\u306f\u6709\u610f\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u305f\u3002\u4e8c\u980595%\u4fe1\u983c\u533a\u9593(CI)\u306f\u6027\u80fd\u63a8\u5b9a\u5024\u306e\u305f\u3081\u306b\u8a08\u7b97\u3055\u308c\u305f\u3002<\/p>\n\n\n\n<p>\u672c\u7814\u7a76\u306f\u3001&#8221;\u4eba\u306e\u4fdd\u8b77\u59d4\u54e1\u4f1a\uff08N\u25e6 PP 14-007\uff09&#8221;\u306b\u3088\u3063\u3066\u627f\u8a8d\u3055\u308c\u307e\u3057\u305f\u3002\u5973\u6027\u306f\u3001\u81ea\u5206\u306e\u30b5\u30f3\u30d7\u30eb\u304c\u7814\u7a76\u306b\u4f7f\u7528\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u3001\u304a\u3088\u3073\u3053\u306e\u7814\u7a76\u306e\u7d50\u679c\u304c\u4f1d\u9054\u3055\u308c\u306a\u3044\u3053\u3068\u306b\u3064\u3044\u3066\u3001\u66f8\u9762\u306b\u3088\u308b\u540c\u610f\u3092\u5f97\u305f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3%E7%B5%90%E6%9E%9C\"><\/span>3.\u7d50\u679c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u306e\u30b5\u30f3\u30d7\u30eb\u3067\u3042\u308b\u30b3\u30db\u30fc\u30c8A\u306f\u3001\u5408\u8a08192\u500b\u306e\u30b5\u30f3\u30d7\u30eb\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u305f\uff08\u56f31\uff09\u300242\u4f8b\u306e\u598a\u5a20\u306b\u304a\u3044\u3066\u3001\u4fb5\u8972\u7684\u691c\u67fb\u3067RAA\u307e\u305f\u306fSUA\u22677 Mb\u304c\u691c\u51fa\u3055\u308c\u305f\uff08\u88dc\u8db3\u8868S1\uff09\uff1a4\u4f8b\u306eRAA\uff08\u80ce\u76e4\u306b\u9650\u5c40\u3057\u305f3\u4f8b\u306e\u30c8\u30ea\u30bd\u30df\u30fc16\uff08III\u578b\u3001\u3059\u306a\u308f\u3061\u3001\u7d30\u80de\u6804\u990a\u7d30\u80de\u3068\u9593\u8449\u7cfb\u306e\u4e21\u65b9\u3067\u691c\u51fa\u3055\u308c\u305f\uff09\u30681\u4f8b\u306e\u975e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u30c8\u30ea\u30bd\u30df\u30fc22\u4f8b\u3002\u80ce\u76e4\u306b\u9650\u5c40\u3057\u305f3\u3064\u306e\u30c8\u30ea\u30bd\u30df\u30fc16\uff08\u3059\u306a\u308f\u3061\u3001\u7d30\u80de\u6804\u990a\u7d30\u80de\u3068\u9593\u8449\u7cfb\u306e\u4e21\u65b9\u306b\u8a8d\u3081\u3089\u308c\u308bIII\u578b\uff09\u30681\u3064\u306e\u975e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u30c8\u30ea\u30bd\u30df\u30fc22\uff09\u300132\u306eSUA\uff08\u91cd\u8907\u3001\u6b20\u5931\u3001\u8ee2\u5ea7\u8a98\u5c0e\u67d3\u8272\u4f53\uff09\u30015\u3064\u306e\u30de\u30fc\u30ab\u30fc\uff083\u3064\u306ei(12)(p10)\u30011\u3064\u306ei(18)(p10)\u3001\u304a\u3088\u30731\u3064\u306e\u75c5\u7406\u5b66\u7684\u8a98\u5c0e\u67d3\u8272\u4f5315\uff09\u3001\u304a\u3088\u30731\u3064\u306eChromoanagenesis\uff081\u3064\u307e\u305f\u306f\u8907\u6570\u306e\u67d3\u8272\u4f53\u5ea7\u306b\u304a\u3051\u308b\u591a\u6570\u306e\u8907\u96d1\u306a\u518d\u914d\u5217\uff09[36]\u3067\u3042\u3063\u305f\u3002 13\u4eba\u304cCMA\u3068\u6838\u578b\u691c\u67fb\u3067\u8a3a\u65ad\u3055\u308c\u30012\u4eba\u304cCMA\u306e\u307f\u3067\u8a3a\u65ad\u3055\u308c\u300127\u4eba\u304c\u6838\u578b\u691c\u67fb\u306e\u307f\u3067\u8a3a\u65ad\u3055\u308c\u305f\u300219\u4eba\u306e\u60a3\u8005\u306f\u7f8a\u6c34\uff08AF\uff09\u306b\u57fa\u3065\u3044\u3066\u8a3a\u65ad\u3055\u308c\u300118\u4eba\u306fCVS\u306b\u57fa\u3065\u3044\u3066\u8a3a\u65ad\u3055\u308c\u30015\u4eba\u306f\u8a3a\u65ad\u306b\u5229\u7528\u3067\u304d\u308b2\u3064\u4ee5\u4e0a\u306e\u7d44\u7e54\u578b\u3092\u6301\u3063\u3066\u3044\u305f\u3002\u4ed6\u306e148\u691c\u4f53\u306f\u5f71\u97ff\u306a\u3057\uff08\u3059\u306a\u308f\u3061\u3001RAA\u307e\u305f\u306fSUA\u22677 Mb\uff09\u3068\u5206\u985e\u3055\u308c\u300139\u691c\u4f53\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u3001109\u691c\u4f53\u306f\u6838\u578b\u3092\u6709\u3057\u3066\u3044\u305f\u3002\u6b8b\u308a\u306e2\u691c\u4f53\u306f\u3001\u7570\u5e38\u306a\u7d30\u80de\u82bd\u7d30\u80de\u3068\u6b63\u5e38\u306a\u80ce\u5150\u306e\u80ce\u76e4\u4e0d\u4e00\u81f4\u304c\u8a8d\u3081\u3089\u308c\u305f\u3002\u5e73\u5747\u598a\u5a20\u5e74\u9f62\u306f17.7\u9031\uff0811.0\uff5e36.3\u9031\uff09\u3067\u3042\u3063\u305f\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<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 ACA\u3092\u4f7f\u7528\u3057\u306a\u3044<\/tspan>\n\t\t<\/tspan>\n\t\t<tspan class=\"k\">\n\t\t\t<tspan x=\"0\" y=\"30\">-2 \u3068CPM+<\/tspan>\n\t\t<\/tspan>\n\t\t<tspan class=\"m\">\n\t\t\t<tspan x=\"0\" y=\"45\">-42\u3068 ACA<\/tspan>\n\t\t<\/tspan>\n\t<\/text>\n\t<text class=\"d\" transform=\"translate(276.26 40.13)\">\u6cbb\u9a13\u5bfe\u8c61\u96c6\u56e3\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\u3064\u306e\u5931\u6557\u3057\u305f<\/tspan>\n\t\t<tspan class=\"j\">\n\t\t\t<tspan x=\"8\" y=\"15\">NIPT\u30b5\u30f3\u30d7\u30eb<\/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\u7d42NIPT\u30b3\u30db\u30fc\u30c8<\/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\u306e\u4f4e\u30ea\u30b9\u30af\u30b3\u30fc\u30eb\n\t\t<tspan x=\"-2.45\" y=\"15\">38\u306e\u30cf\u30a4\u30ea\u30b9\u30af\u30b3\u30fc\u30eb<\/tspan>\n\t<\/text>\n\t<text class=\"d\" transform=\"translate(275.24 331.13)\">\u771f\u9670\u6027145\u4f8b\n\t\t<tspan x=\"3.43\" y=\"15\">\u771f\u967d\u602737\u4f8b<\/tspan>\n\t\t<tspan x=\"-2.61\" y=\"30\">Fales\u9670\u60275\u4f8b<\/tspan>\n\t\t<tspan x=\"6.85\" y=\"45\">\u507d\u967d\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>\u56f31.<\/strong>\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u30b5\u30f3\u30d7\u30eb\u306e\u6982\u8981\u3002\u8a66\u9a13\u96c6\u56e3\u3001\u4e0d\u5408\u683c\u30b5\u30f3\u30d7\u30eb\u3001\u6700\u7d42\u7684\u306aNIPT\u30b3\u30db\u30fc\u30c8\u306e\u6982\u8981\u3002\u20202\u4f8b\u306f\u3001\u7570\u5e38\u306a\u7d30\u80de\u82bd\u7d30\u80de\u3068\u6b63\u5e38\u306a\u80ce\u5150\u306e\u80ce\u76e4\u4e0d\u4e00\u81f4\u3092\u6709\u3057\u3066\u3044\u305f\u30021\u4f8b\u76ee\u306f\u3001\u76f4\u63a5\u7d30\u80de\u82bd\u7d30\u80de\u6838\u578b\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>46,XY,del(5)(p15)(7)\/46,XY(12)\u3001\u9577\u671f\u57f9\u990a\u3068\u7f8a\u6c34\u57f9\u990a\u306b\u3088\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>46,XY\u3067\u3042\u3063\u305f\u30022\u4f8b\u76ee\u306f\u3001\u76f4\u63a5\u7d30\u80de\u82bd\u7d30\u80de\u6838\u578b\u306b\u3088\u308b47,XY,+der(13)t(11;13)(q12;q34)\/46,XY,t(11;13)\u3068\u9577\u671f\u57f9\u990a\u3068\u7f8a\u6c34\u57f9\u990a\u306b\u3088\u308b46,XY,t(11;13)(q12;q34)\u3067\u3042\u3063\u305f\u3002<\/figcaption>\n         <\/figure>\n\n\n\n<p>\u30b5\u30f3\u30d7\u30eb\u306f\u30b5\u30f3\u30d7\u30eb\u306e\u5236\u7d04\u306b\u3088\u308a1\u56de\u3057\u304b\u5b9f\u65bd\u3067\u304d\u306a\u304b\u3063\u305f\u305f\u3081\u3001\u5931\u6557\u7387\u306f2.08%\u3067\u3042\u3063\u305f\u3002\u5931\u6557\u3057\u305f4\u3064\u306e\u30b5\u30f3\u30d7\u30eb\u306f\u3001\u3059\u3079\u3066\u80ce\u5150\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u7d50\u679c\u304c\u6b63\u5e38\u3067\u3042\u3063\u305f\u598a\u5a20\u4e2d\u306e\u3082\u306e\u3067\u3057\u305f\u3002188\u4f8b\u306e\u3046\u3061\u3001150\u4f8b\u304c\u4f4e\u30ea\u30b9\u30af\u3067\u300138\u4f8b\u304c\u9ad8\u30ea\u30b9\u30af\u306eNIPT\u30b3\u30fc\u30eb\u3067\u3042\u3063\u305f\u3002\u5e73\u5747FF\u306f11.76\uff05\u3067\u3042\u3063\u305f\u3002\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u96c6\u56e3\u306b\u304a\u3051\u308b\u6b63\u5e38\u30b5\u30f3\u30d7\u30eb\u3068\u7570\u5e38\u30b5\u30f3\u30d7\u30eb\u306e\u9593\u306b\u7d71\u8a08\u7684\u5dee\u306f\u306a\u304b\u3063\u305f\uff08p = 0.52\uff09\u3002<\/p>\n\n\n\n<p>\u507d\u967d\u6027\u30b3\u30fc\u30eb\u306f1\u4ef6\u3001\u507d\u9670\u6027\u30b3\u30fc\u30eb\u306f5\u4ef6\u3067\u3042\u3063\u305f\u3002RAA\u304a\u3088\u3073SUAs\u22677 Mb\u306e\u691c\u51fa\u306b\u5bfe\u3059\u308b\u611f\u5ea6\u306f88.1\uff05\uff0837\/42\uff1bCI 75.00\uff5e94.81\uff09\u3001\u7279\u7570\u5ea6\u306f99.32\uff05\uff08145\/146\uff1bCI 96.22\uff5e99.88\uff09\u3067\u3042\u3063\u305f\u30021\u3064\u306e\u507d\u967d\u6027\u30b3\u30fc\u30eb\u306f\u3001\u9650\u5c40\u6027\u80ce\u76e4<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u75c71\u578b\uff08CPM1\u3001\u3059\u306a\u308f\u3061\u7d30\u80de\u6804\u990a\u7d30\u80de\u306e\u307f\uff09\u306b\u3088\u308b\u3082\u306e\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u305f\u3002\u3053\u306e\u30b5\u30f3\u30d7\u30eb\u306f\u3001NIPT\u306b\u3088\u308adup(11)(p11.12q25); + 13\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u305f\u3002\u7d30\u80de\u6804\u990a\u7d30\u80de\u306e\u76f4\u63a5\u89e3\u6790\u306e\u30ab\u30ea\u30aa\u30bf\u30a4\u30d7\u306f47,XY,+der(13)t(11;13)(q12;q34),t(11;13)\u3067\u3042\u3063\u305f\u304c\u3001\u9593\u8449\u7cfb\u306e\u9577\u671f\u57f9\u990a\u306e\u30ab\u30ea\u30aa\u30bf\u30a4\u30d7\u306f46,XY,t(11;13)(q12;q34)\u3067\u3042\u3063\u305f\u3002<\/p>\n\n\n\n<p>5\u3064\u306e\u507d\u9670\u6027\u306e\u7d50\u679c\u306e\u6982\u8981\u3092\u88681\u306b\u793a\u3059\uff1b\u3053\u308c\u3089\u306e\u30b5\u30f3\u30d7\u30eb\u306eFF\u306f3\u301c15\uff05\u3067\u3042\u3063\u305f\u3002\u30b5\u30f3\u30d7\u30eb1\u306e\u518d\u914d\u5217\u306f\u3001\u30d0\u30f3\u30c94p16.3\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3057\u305f\u3082\u306e\u3067\u3042\u308a\u3001\u305d\u306e\u5927\u304d\u3055\u306f\u30a2\u30ec\u30a4\u3067\u306f\u8abf\u3079\u3089\u308c\u306a\u304b\u3063\u305f\u3002\u305d\u308c\u306f\u3001550 RHG\u30d0\u30f3\u30c7\u30a3\u30f3\u30b0\u30ab\u30ea\u30aa\u30bf\u30a4\u30d7\uff08\u5206\u89e3\u80fd5-10Mb\uff09\u4e0a\u3067\u76ee\u306b\u898b\u3048\u305f\u304c\u3001\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306f\u3001\u3053\u306eNIPT\u30a2\u30c3\u30bb\u30a4\u3067\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u6700\u5c0f\u30b5\u30a4\u30ba\u306e\u3057\u304d\u3044\u5024\u4ee5\u4e0b\u3067\u3042\u308b\u305f\u3081\u3001\u507d\u9670\u6027\u306eNIPT\u7d50\u679c\u306e1\u3064\u306e\u53ef\u80fd\u6027\u306e\u3042\u308b\u8aac\u660e\u3067\u3042\u308b5\u304b\u30897Mb\u306e\u9593\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u30b5\u30f3\u30d7\u30eb2\u3067\u306f\u3001\u507d\u9670\u6027\u306e\u7d50\u679c\u306f\u3001Pallister-Killian\u75c7\u5019\u7fa4\u3067\u901a\u5e38\u898b\u3089\u308c\u308b\u3088\u3046\u306b\u3001\u30a2\u30a4\u30bd\u30af\u30ed\u30e2\u30be\u30fc\u30e012p\uff08OMIM 601803\uff09\u306b\u8d77\u56e0\u3059\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u6027\u306e\u7591\u3044\u306e\u5b58\u5728\u306b\u8d77\u56e0\u3057\u3066\u3044\u307e\u3059\u3002\u30b5\u30f3\u30d7\u30eb3\u306b\u3064\u3044\u3066\u306f\u3001\u67d3\u8272\u4f53\u5408\u6210\u304c\u507d\u9670\u6027\u7d50\u679c\u306e\u6700\u3082\u53ef\u80fd\u6027\u306e\u9ad8\u3044\u7406\u7531\u3067\u3059\u3002\u30b5\u30f3\u30d7\u30eb4\u306e\u507d\u9670\u6027\u306e\u751f\u7269\u5b66\u7684\u8aac\u660e\u306f\u3067\u304d\u307e\u305b\u3093\u3067\u3057\u305f\u304c\u3001FF\u304c\u4f4e\u3044\u305f\u3081\u306b\u4e0d\u4e00\u81f4\u3092\u8aac\u660e\u3067\u304d\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u30b5\u30f3\u30d7\u30eb5\u306b\u3064\u3044\u3066\u306f\u3001FF\u306e\u4f4e\u3055\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u306e\u53ef\u80fd\u6027\uff08\u67d3\u8272\u4f53\u304c\u30dd\u30b9\u30c8\u63a5\u5408\u4f53\u3068\u3057\u3066\u8a18\u8ff0\u3055\u308c\u3066\u3044\u308b\uff09\u306e\u7d44\u307f\u5408\u308f\u305b\u304c\u507d\u9670\u6027\u3092\u8aac\u660e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002<\/p>\n\n\n\n<table>\n      <caption><strong>\u88681.<\/strong> \u30b3\u30db\u30fc\u30c8A\u306e\u507d\u9670\u6027\u691c\u4f53\u306e\u6982\u8981<\/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>\u30b5\u30f3\u30d7\u30eb<\/th>\n            <th>\u80ce\u5150\u306e\u5272\u5408<\/th>\n            <th>\u6838\u578b<\/th>\n            <th>\u30b5\u30a4\u30ba(Mb)<\/th>\n            <th>\u30b3\u30e1\u30f3\u30c8<\/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>\u6838\u578b\u306b\u57fa\u3065\u304f5-8<\/td>\n            <td>\u53ef\u80fd\u306a\u30b5\u30a4\u30ba&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\u308f\u308c\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u73fe\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>\u5168\u6b20\u5931=6.9<br>\n\u91cd\u8907\u5408\u8a08=36.2<\/td>\n            <td>\u30af\u30ed\u30e2\u30ca\u30b7\u30f3\u30bb\u30b7\u30b9<\/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<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306e\u7d50\u679c(15\u56de\u306e\u518d\u914d\u5217)\u3092\u6709\u3059\u308b\u30b5\u30f3\u30d7\u30eb\u3067\u306f\u3001NIPT\u306b\u3088\u3063\u3066\u691c\u51fa\u3055\u308c\u305f\u90e8\u5206\u7684\u4e0d\u5747\u8861\u518d\u914d\u5217\u306e\u30bb\u30b0\u30e1\u30f3\u30c8\u30b5\u30a4\u30ba\u3068<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u306b\u3088\u3063\u3066\u691c\u51fa\u3055\u308c\u305f\u90e8\u5206\u7684\u4e0d\u5747\u8861\u518d\u914d\u5217\u306e\u30bb\u30b0\u30e1\u30f3\u30c8\u30b5\u30a4\u30ba\u3068\u306e\u9593\u306b\u826f\u597d\u306a\u76f8\u95a2\u304c\u89b3\u5bdf\u3055\u308c\u305f\u304c\u30011\u4f8b\u306f\u4f8b\u5916\u3067\u3042\u3063\u305f(\u88682\u306e\u30b5\u30f3\u30d7\u30eb5)\u3002 NIPT\u306f\u3053\u306e\u30b5\u30f3\u30d7\u30eb\u30c8\u30ea\u30bd\u30df\u30fc11\u3068\u547c\u3073\u3001\u4e00\u65b9\u3001\u6838\u578b\u304a\u3088\u3073\u30a2\u30ec\u30a4\u306f\u8ee2\u5ea7t(11;12)\u304b\u3089\u306e\u8a98\u5c0e\u4f53\u67d3\u8272\u4f5311\u3092\u5831\u544a\u3057\u3001\u67d3\u8272\u4f5311\u306e\u90e8\u5206\u672b\u7aef\u6b20\u5931\u306f2.7 Mb\u300112\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u90e8\u5206\u672b\u7aef\u91cd\u8907\u306f11.7 Mb\u3067\u3042\u3063\u305f\u3002<\/p>\n\n\n\n<table>\n      <caption><strong>\u88682.<\/strong> \u30a2\u30ec\u30a4\u3068NIPT\u9593\u306eCNV\u30b5\u30a4\u30ba(Mb)\u306e\u76f8\u95a2\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>\u30b5\u30f3\u30d7\u30eb<\/th>\n            <th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a><\/th>\n            <th>\u914d\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\u30c8\u30ea\u30bd\u30df\u30fc<\/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         <td colspan=\"3\">CNV\u3001\u30b3\u30d4\u30fc\u6570\u306e\u5909\u52d5; <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\u3001\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3002<\/td>\n      <\/tfoot>\n   <\/table>\n\n\n\n<p>\u90e8\u5206\u7684\u306b\u4e0d\u5747\u8861\u306a\u518d\u7de8\u6210\u3092\u6709\u3059\u308b35\u80ce\u5150\u306b\u304a\u3051\u308b41\u500b\u306e\u6b20\u5931\/\u91cd\u8907\u30bb\u30b0\u30e1\u30f3\u30c8\u22677 Mb\u306e\u5206\u6790\u306f\u3001\u691c\u51fa\u7387\u304c\u6b20\u5931\u304a\u3088\u3073\u91cd\u8907\u306b\u5bfe\u3057\u3066\u540c\u7b49\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u308b\u3002 \u5bfe\u7167\u7684\u306b\u3001\u672b\u7aef\u8ee2\u4f4d\u3068\u6bd4\u8f03\u3057\u3066\u9593\u8cea\u8ee2\u4f4d\u306e\u611f\u5ea6\u304c\u9ad8\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a(\u88683)\u3001\u3053\u306e\u50be\u5411\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u306f\u3001\u3088\u308a\u5927\u304d\u306a\u30b5\u30f3\u30d7\u30eb\u30b5\u30a4\u30ba\u304c\u5fc5\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<table>\n      <caption><strong>\u88683. <\/strong> \u8a66\u9a13\u30b5\u30f3\u30d7\u30eb\u3067\u89b3\u5bdf\u3055\u308c\u305f\u4e0d\u5747\u8861\u306a\u69cb\u9020\u518d\u914d\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>\u8ee2\u4f4d\u306e\u7a2e\u985e<\/th>\n            <th>\u6838\u578bn\u3067\u89b3\u5bdf<\/th>\n            <th><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, n\u306b\u3088\u308a\u691c\u51fa<\/th>\n            <th>\u691c\u51fa\u7387\u3001%(95%\u4fe1\u983c\u533a\u9593)<\/th>\n         <\/tr>\n      <\/thead>\n      <tbody>\n         <tr>\n            <td>\u524a\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>\u8907\u88fd<\/td>\n            <td>28<\/td>\n            <td>24<\/td>\n            <td>85.7 (67.3-96.0)<\/td>\n         <\/tr>\n         <tr>\n            <td>\u9593\u8cea\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         <td colspan=\"4\">CI\u3001\u4fe1\u983c\u533a\u9593<\/td>\n      <\/tfoot>\n   <\/table>\n\n\n\n<p>\u6211\u3005\u306f\u307e\u305f\u3001MSS\u30ea\u30b9\u30af\u30b9\u30b3\u30a2\u306b\u57fa\u3065\u3044\u3066\u3001\u6709\u5bb3\u8ee2\u5e30\u306e\u30ea\u30b9\u30af\u304c\u6700\u3082\u9ad8\u3044\u60a3\u8005\u3092\u9078\u629e\u3059\u308b\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u6226\u7565\u3092\u6c7a\u5b9a\u3057\u305f\u304b\u3063\u305f\u3002Lindquist\u3089 [3] \u306fMSS\u30ea\u30b9\u30af\u30b9\u30b3\u30a2\u306b\u57fa\u3065\u3044\u3066\u6709\u75c5\u7387\u3092\u6c7a\u5b9a\u3057\u305f\u3002\u3053\u308c\u3089\u306e\u6709\u75c5\u7387\u5024\u3092\u7528\u3044\u3066\u3001\u6211\u3005\u306e\u7814\u7a76\u4ed5\u69d899.32\uff05\u3001\u611f\u5ea688.1\uff05\u3092\u7528\u3044\u3066\u3001MSS\u30ea\u30b9\u30af\u30b9\u30b3\u30a2\u306e\u9055\u3044\u306b\u3088\u308b\u6b63\u306e\u4e88\u6e2c\u5024\uff08PPV\uff09\u3092\u7b97\u51fa\u3057\u305f\uff08\u88684\uff09\u3002\u7406\u8ad6\u7684\u306aPPV\u306f\u4e00\u822c\u96c6\u56e3\u3068MSS\u30ea\u30b9\u30af\u30b9\u30b3\u30a2&gt;1\/300\u306e\u30b0\u30eb\u30fc\u30d7\u3067\u306f11\uff5e64\uff05\u3067\u3042\u3063\u305f\u3002<\/p>\n\n\n\n<table>\n      <caption><strong>\u88684.<\/strong> ACA\u306e\u6709\u75c5\u7387\u304a\u3088\u3073MSS\u30ea\u30b9\u30af\u30b9\u30b3\u30a2\u306b\u57fa\u3065\u304fPPV\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>\u6e2c\u5b9a<\/th>\n            <th>\u4e00\u822c\u96c6\u56e3<\/th>\n            <th>MSS\u30b9\u30b3\u30a2<br>1\/51-1\/1000<\/th>\n            <th>MSS\u30b9\u30b3\u30a2<br>&gt;1\/1000<\/th>\n            <th>MSS\u30b9\u30b3\u30a2<br>1\/51-1\/300<\/th>\n            <th>MSS\u30b9\u30b3\u30a2<br>&gt;1\/300<\/th>\n         <\/tr>\n      <\/thead>\n      <tbody>\n         <tr>\n            <td>\u6709\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>\u5024\u306fLindquist\u3089\u306e\u7814\u7a76\u306b\u57fa\u3065\u304f\u3002 [3]. PPV\u3001\u967d\u6027\u7684\u4e2d\u7387;ACA\u3001\u975e\u5b9a\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>; MSS\u3001\u6bcd\u4f53\u8840\u6e05\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3002<\/td>\n      <\/tr><\/tfoot>\n   <\/table>\n\n\n\n<p>\u30b3\u30db\u30fc\u30c8B\u3001\u3059\u306a\u308f\u3061\u7167\u4f1a\u96c6\u56e3\u30b3\u30db\u30fc\u30c8(\u56f32)\u306f\u3001\u4e00\u822c\u7684\u306a\u7570\u6570\u6027\u306b\u3064\u3044\u3066\u30eb\u30fc\u30c1\u30f3\u306eNIPT\u3092\u53d7\u3051\u305f\u5973\u6027\u304b\u3089\u306e3097\u70b9\u306e\u30b5\u30f3\u30d7\u30eb\u304b\u3089\u69cb\u6210\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e88%\u306fMSS\u30ea\u30b9\u30af\u22671\/1000\u306e\u305f\u3081\u306b\u5b9f\u65bd\u3055\u308c\u305f(\u88685)\u3002 \u5e73\u5747\u5728\u80ce\u9031\u9f62\u306f16.8\u9031(10.1.37.0\u9031)\u3067\u3042\u3063\u305f\u3002 \u7167\u4f1a\u96c6\u56e3(\u30b3\u30db\u30fc\u30c8B)\u306f\u3001\u30d0\u30a4\u30aa\u30d0\u30f3\u30af(\u30b3\u30db\u30fc\u30c8A)\u30b5\u30f3\u30d7\u30eb(\u305d\u308c\u305e\u308c16.8\u9031\u9593\u5bfe17.7\u9031\u9593; p = 0.003)\u3088\u308a\u3082\u5e73\u5747\u5728\u80ce\u671f\u9593\u304c\u308f\u305a\u304b\u306b\u4f4e\u304b\u3063\u305f\u3002 \u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u30b3\u30db\u30fc\u30c8\u306e\u598a\u5a20\u5e74\u9f62\u306f11.0\uff5e36.3\u9031\u3067\u3042\u3063\u305f\u3002 \u30b3\u30db\u30fc\u30c8A\u3068\u30b3\u30db\u30fc\u30c8B\u306e\u80ce\u5150\u5206\u753b\u3092\u6bd4\u8f03\u3057\u305f\u3068\u3053\u308d(\u88686)\u3001\u6709\u610f\u5dee\u304c\u8a8d\u3081\u3089\u308c\u305f(p &lt; 0.001)\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<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 .q{stroke:#231815;stroke-miterlimit:10;}\n.cohoto_b .a,\n.cohoto_b .b,\n.cohoto_b .c,\n.cohoto_b .d{stroke-width:0.5px;}\n.cohoto_b .b{fill:#bddbff;}\n.cohoto_b .c{fill:#dee4ff;}\n.cohoto_b .d{fill:#bfefc9;}\n.cohoto_b .e,\n.cohoto_b .k{font-size:12px;}\n.cohoto_b .e,\n.cohoto_b .m{letter-spacing:0.02em;}\n.cohoto_b .l{letter-spacing:0.06em;}\n.cohoto_b .p{letter-spacing:0.11em;}\n.cohoto_b .q{fill:none;stroke-width:1.5px;}\n.cohoto_b .r{fill:#231815;}\n<\/style>\n\t<\/defs>\n\t<rect class=\"a\" x=\"241.08\" y=\"0.25\" width=\"170.08\" height=\"48.19\" rx=\"14.17\"><\/rect>\n\t<rect class=\"a\" x=\"241.08\" y=\"103.25\" width=\"170.08\" height=\"48.19\" rx=\"14.17\"><\/rect>\n\t<rect class=\"b\" x=\"255.25\" y=\"225.25\" width=\"141.73\" height=\"48.19\" rx=\"14.17\"><\/rect>\n\t<rect class=\"c\" x=\"269.11\" y=\"353.5\" width=\"113.39\" height=\"85.04\" rx=\"14.17\"><\/rect>\n\t<rect class=\"d\" x=\"420.9\" y=\"43.34\" width=\"113.71\" height=\"54.33\" rx=\"9.96\"><\/rect>\n\t<text class=\"e\" transform=\"translate(308.03 21.26)\">\u7d39\u4ecb\u8005\n\t\t<tspan x=\"-4.66\" y=\"15\">n=3,097<\/tspan>\n\t<\/text>\n\t<text class=\"e\" transform=\"translate(438.59 67.26)\">\u5931\u6557\u3057\u305f90\u306e\n\t\t<tspan x=\"-0.28\" y=\"15\">NIPT\u30b5\u30f3\u30d7\u30eb<\/tspan>\n\t<\/text>\n\t<text class=\"k\" transform=\"translate(263.65 125.26)\">\n\t\t<tspan class=\"l\">\u6700\u7d42\u7d39\u4ecbNIPT\u30b3\u30db\u30fc\u30c8<\/tspan>\n\t\t<tspan class=\"m\">\n\t\t\t<tspan x=\"15.22\" y=\"15\">n=3,007 n=3,007<\/tspan>\n\t\t<\/tspan>\n\t<\/text>\n\t<text class=\"e\" transform=\"translate(311.79 246.26)\">ACAs\n\t\t<tspan x=\"-0.1\" y=\"15\">n=36<\/tspan>\n\t<\/text>\n\t<text class=\"e\" transform=\"translate(277.54 378.26)\">\u30b0\u30eb\u30fc\u30d72\u306eRATs\n\t\t<tspan x=\"34.16\" y=\"15\">n=13<\/tspan>\n\t\t<tspan x=\"35.05\" y=\"30\">-3 T3<\/tspan>\n\t\t<tspan x=\"34.91\" y=\"45\">-10 7<\/tspan>\n\t<\/text>\n\t<line class=\"q\" x1=\"326.12\" y1=\"48.84\" x2=\"326.12\" y2=\"90.89\"><\/line>\n\t<polygon class=\"r\" points=\"320.56 86.68 326.12 89.04 331.67 86.68 326.12 99.84 320.56 86.68\"><\/polygon>\n\t<line class=\"q\" x1=\"326.12\" y1=\"151.84\" x2=\"326.12\" y2=\"213.89\"><\/line>\n\t<polygon class=\"r\" points=\"320.56 209.68 326.12 212.04 331.67 209.68 326.12 222.84 320.56 209.68\"><\/polygon>\n\t<line class=\"q\" x1=\"326.12\" y1=\"273.84\" x2=\"326.12\" y2=\"342.89\"><\/line>\n\t<polygon class=\"r\" points=\"320.56 338.68 326.12 341.04 331.67 338.68 326.12 351.84 320.56 338.68\"><\/polygon>\n\t<line class=\"q\" x1=\"326.12\" y1=\"69.84\" x2=\"411.16\" y2=\"69.84\"><\/line>\n\t<polygon class=\"r\" points=\"406.95 75.4 409.31 69.84 406.95 64.29 420.12 69.84 406.95 75.4\"><\/polygon>\n\t<rect class=\"a\" x=\"0.25\" y=\"225.25\" width=\"141.73\" height=\"48.19\" rx=\"14.17\"><\/rect>\n\t<text class=\"e\" transform=\"translate(38.09 246.26)\">T13,T18,T21\n\t\t<tspan x=\"18.6\" y=\"15\">n=36<\/tspan>\n\t<\/text>\n\t<rect class=\"a\" x=\"510.25\" y=\"225.25\" width=\"141.73\" height=\"48.19\" rx=\"14.17\"><\/rect>\n\t<text class=\"e\" transform=\"translate(569.17 246.26)\">\u6b63\u5e38\n\t\t<tspan x=\"-10.78\" y=\"15\">n=2,926<\/tspan>\n\t<\/text>\n\t<line class=\"q\" x1=\"71.12\" y1=\"186.84\" x2=\"581.35\" y2=\"186.84\"><\/line>\n\t<line class=\"q\" x1=\"581.12\" y1=\"187.84\" x2=\"581.12\" y2=\"213.89\"><\/line>\n\t<polygon class=\"r\" points=\"575.56 209.68 581.12 212.04 586.67 209.68 581.12 222.84 575.56 209.68\"><\/polygon>\n\t<line class=\"q\" x1=\"71.12\" y1=\"187.84\" x2=\"71.12\" y2=\"213.89\"><\/line>\n\t<polygon class=\"r\" points=\"65.56 209.68 71.12 212.04 76.67 209.68 71.12 222.84 65.56 209.68\"><\/polygon>\n\t<line class=\"q\" x1=\"71.12\" y1=\"308.84\" x2=\"581.35\" y2=\"308.84\"><\/line>\n\t<rect class=\"c\" x=\"397.11\" y=\"353.42\" width=\"113.39\" height=\"99.21\" rx=\"14.17\"><\/rect>\n\t<text class=\"e\" transform=\"translate(405.78 378.26)\">\u30b0\u30eb\u30fc\u30d73\u306eRATs\n\t\t<tspan x=\"37.34\" y=\"15\">n=5<\/tspan>\n\t\t<tspan x=\"34.81\" y=\"30\">-1 T4<\/tspan>\n\t\t<tspan x=\"31.38\" y=\"45\">-1 T10<\/tspan>\n\t\t<tspan x=\"31.38\" y=\"60\">-3 T20<\/tspan>\n\t<\/text>\n\t<rect class=\"c\" x=\"524.11\" y=\"353.59\" width=\"113.39\" height=\"70.87\" rx=\"14.17\"><\/rect>\n\t<text class=\"e\" transform=\"translate(563.05 378.26)\">\u8907\u5408\u4f53\n\t\t<tspan x=\"-12.24\" y=\"15\">\u30a2\u30ce\u30de\u30ea\u30fc<\/tspan>\n\t\t<tspan x=\"7.07\" y=\"30\">n=1<\/tspan>\n\t<\/text>\n\t<line class=\"q\" x1=\"581.12\" y1=\"308.84\" x2=\"581.12\" y2=\"342.89\"><\/line>\n\t<polygon class=\"r\" points=\"575.56 338.68 581.12 341.04 586.67 338.68 581.12 351.84 575.56 338.68\"><\/polygon>\n\t<rect class=\"b\" x=\"14.11\" y=\"353.68\" width=\"113.39\" height=\"56.69\" rx=\"14.17\"><\/rect>\n\t<text class=\"e\" transform=\"translate(57.12 378.26)\">SUAs\n\t\t<tspan x=\"-0.43\" y=\"15\">n=10<\/tspan>\n\t<\/text>\n\t<rect class=\"b\" x=\"142.11\" y=\"353.24\" width=\"113.39\" height=\"127.56\" rx=\"14.17\"><\/rect>\n\t<text class=\"e\" transform=\"translate(150.14 379.26)\">\u30b0\u30eb\u30fc\u30d71\u306eRATs\n\t\t<tspan x=\"36.98\" y=\"15\">n=7<\/tspan>\n\t\t<tspan x=\"34.45\" y=\"30\">-3 T8<\/tspan>\n\t\t<tspan x=\"34.44\" y=\"45\">-1 T9<\/tspan>\n\t\t<tspan x=\"31.02\" y=\"60\">-1 T16<\/tspan>\n\t\t<tspan x=\"31.02\" y=\"75\">-2 T22<\/tspan>\n\t<\/text>\n\t<line class=\"q\" x1=\"71.12\" y1=\"308.84\" x2=\"71.12\" y2=\"342.89\"><\/line>\n\t<polygon class=\"r\" points=\"65.56 338.68 71.12 341.04 76.67 338.68 71.12 351.84 65.56 338.68\"><\/polygon>\n\t<line class=\"q\" x1=\"199.12\" y1=\"308.84\" x2=\"199.12\" y2=\"342.89\"><\/line>\n\t<polygon class=\"r\" points=\"193.56 338.68 199.12 341.04 204.67 338.68 199.12 351.84 193.56 338.68\"><\/polygon>\n\t<line class=\"q\" x1=\"454.12\" y1=\"308.84\" x2=\"454.12\" y2=\"342.89\"><\/line>\n\t<polygon class=\"r\" points=\"448.56 338.68 454.12 341.04 459.67 338.68 454.12 351.84 448.56 338.68\"><\/polygon>\n<\/svg>\n      <figcaption><strong>\u56f32.<\/strong>\u7d39\u4ecb\u8005\u96c6\u56e3\u3001\u5931\u6557\u30b5\u30f3\u30d7\u30eb\u3001\u304a\u3088\u3073\u7d39\u4ecb\u8005\u30b3\u30db\u30fc\u30c8\u306e\u6982\u8981\u3002 T\u3001\u30c8\u30ea\u30bd\u30df\u30fc\u3002ACA\u3001\u975e\u5b9a\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>;SUA\u3001\u69cb\u9020\u7684\u4e0d\u5747\u8861\u7570\u5e38\u3002RAT\u3001\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u30c8\u30ea\u30bd\u30df\u30fc\u3002<\/figcaption>\n   <\/figure>\n\n\n\n<table>\n      <caption><strong>\u88685.<\/strong> \u7d39\u4ecb\u8005\u96c6\u56e3\u306b\u5bfe\u3059\u308bNIPT\u306e\u9069\u5fdc\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>\u6bcd\u96c6\u56e3\u30bf\u30a4\u30d7<\/th>\n            <th>\u5931\u6557<\/th>\n            <th>\u7570\u5e38\u306a\u3057<\/th>\n            <th>\u4e00\u822c\u7684\u306a\u30c8\u30ea\u30bd\u30df\u30fc<\/th>\n            <th>ACAs<\/th>\n            <th>\u5408\u8a08\u3001n(%)<\/th>\n         <\/tr>\n      <\/thead>\n      <tbody>\n         <tr>\n            <th>MSS\u22671\/1000<\/th>\n            <td>71<\/td>\n            <td>2596<\/td>\n            <td>35<\/td>\n            <td>29<\/td>\n            <td>2731(88)<\/td>\n         <\/tr>\n         <tr>\n            <th>MSS &lt; 1\/1000<\/th>\n            <td>9<\/td>\n            <td>139<\/td>\n            <td>0<\/td>\n            <td>1<\/td>\n            <td>149(5)<\/td>\n         <\/tr>\n         <tr>\n            <th>\u89aa\u306e\u30ed\u30d0\u30fc\u30c8\u30bd\u30f3\u8ee2\u5ea7<\/th>\n            <td>0<\/td>\n            <td>2<\/td>\n            <td>0<\/td>\n            <td>0<\/td>\n            <td>2 (0)<\/td>\n         <\/tr>\n         <tr>\n            <th>\u80ce\u5150\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u65e2\u5f80\u6b74<\/th>\n            <td>2<\/td>\n            <td>51<\/td>\n            <td>0<\/td>\n            <td>1<\/td>\n            <td>54 (2)<\/td>\n         <\/tr>\n         <tr>\n            <th>\u4e00\u6b21\u5be9\u67fb<\/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>\u5408\u8a08<\/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         <td colspan=\"7\">ACA\u3001\u975e\u5b9a\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>; MSS\u3001\u6bcd\u4f53\u8840\u6e05\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3002<\/td>\n      <\/tfoot>\n   <\/table>\n\n\n\n<table>\n      <caption><strong>\u88686.<\/strong> \u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u304a\u3088\u3073\u7d39\u4ecb\u8005\u96c6\u56e3\u306e\u80ce\u5150\u5206\u753b\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>\u6e2c\u5b9a<\/th>\n            <th>\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u30b5\u30f3\u30d7\u30eb(\u30b3\u30db\u30fc\u30c8A)(n = 189)<\/th>\n            <th>\u30b3\u30db\u30fc\u30c8A(n = 147)\u7531\u6765\u306e\u6b63\u5e38\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u30b5\u30f3\u30d7\u30eb<\/th>\n            <th>\u30b3\u30db\u30fc\u30c8A\u304b\u3089\u306e\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u30b5\u30f3\u30d7\u30eb\u306e\u7570\u5e38(n = 42)<\/th>\n            <th>\u7167\u4f1a\u30b5\u30f3\u30d7\u30eb(\u30b3\u30db\u30fc\u30c8B)(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\u592e\u5024<\/td>\n            <td>11%<\/td>\n            <td>11%<\/td>\n            <td>10.5%<\/td>\n            <td>10%<\/td>\n         <\/tr>\n         <tr>\n            <td>\u7bc4\u56f2<\/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>3097\u70b9\u306e\u30b5\u30f3\u30d7\u30eb(\u30b3\u30db\u30fc\u30c8B)\u306eNIPT\u5206\u6790\u306f\u300190\u70b9(2.9%)\u306e\u521d\u56de\u5931\u6557\u3092\u3082\u305f\u3089\u3057\u305f;\u6700\u7d42\u5931\u6557\u7387\u306f\u3001\u30b5\u30f3\u30d7\u30eb\u304c2\u56de\u76ee\u306e\u5408\u683c\u8a66\u9a13\u3092\u53d7\u3051\u306a\u304b\u3063\u305f\u305f\u3081\u4e0d\u660e\u3067\u3042\u308b\u3002 \u7d50\u679c\u3092\u53d7\u3051\u53d6\u3063\u305f3007\u691c\u4f53\u306e\u3046\u3061(\u56f32)\u300136\u691c\u4f53(1.2%)\u304c\u30c8\u30ea\u30bd\u30df\u30fc13\u300118\u300121\u306e\u967d\u6027\u7d50\u679c\u3092\u793a\u3057\u300136\u691c\u4f53(1.2%)\u304cACA\u967d\u6027\u7d50\u679c\u3092\u793a\u3057\u305f\u3002 \u9ad8\u30ea\u30b9\u30af\u96c6\u56e3(MSS\u30ea\u30b9\u30af\u22671\/1000)\u3067\u306f\u30011.09%\u304cACA\u967d\u6027\u3067\u3042\u308a\u3001\u4e00\u6b21\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u96c6\u56e3\u3067\u306f3.27%\u304c\u967d\u6027\u3067\u3042\u3063\u305f(\u88687)\u3002 36\u306eACA\u306f\u300110\u306eSUA\u300125\u306eRAT\u3001\u304a\u3088\u3073\u8907\u6570\u306e\u7570\u5e38\u3092\u6709\u3059\u308b1\u75c7\u4f8b\u304b\u3089\u69cb\u6210\u3055\u308c\u305f\u3002 \u3059\u306a\u308f\u3061\u3001(1)\u6b20\u5931\u3001\u91cd\u8907\u3001\u8ee2\u5ea7\u8a98\u5c0e\u4f53\u67d3\u8272\u4f53\u3001\u9006\u4f4d\u307e\u305f\u306f\u30de\u30fc\u30ab\u30fc\u67d3\u8272\u4f53\u306e\u7d44\u63db\u3048\u4f53\u3001\u304a\u3088\u3073(2)\u30c8\u30ea\u30bd\u30df\u30fc8\u30019\u3001\u304a\u3088\u307322\u306a\u3069\u306e\u53e4\u5178\u7684\u67d3\u8272\u4f53\u518d\u69cb\u6210\u306b\u5bfe\u5fdc\u3059\u308bSUA;\u7247\u89aa\u6027\u30c0\u30a4\u30bd\u30df\u30fc\u306e\u30ea\u30b9\u30af\u306e\u305f\u3081\u306e\u30c8\u30ea\u30bd\u30df\u30fc14\u304a\u3088\u307315;\u598a\u5a20\u8ee2\u5e30\u4e0d\u826f\u306e\u30ea\u30b9\u30af\u306e\u305f\u3081\u306e\u30c8\u30ea\u30bd\u30df\u30fc16;\u304a\u3088\u3073\u540c\u67d3\u8272\u4f5312p\u306e\u30ea\u30b9\u30af\u306e\u305f\u3081\u306e\u30c8\u30ea\u30bd\u30df\u30fc12(Pallister.Killian\u75c7\u5019\u7fa4);17\u691c\u4f53\u306e\u307f\u304c\u967d\u6027\u3067\u3042\u3063\u305f:\u5168\u7814\u7a76\u7fa4\u3067\u306f\u308f\u305a\u304b0.57%\u3001MSS\u30ea\u30b9\u30af\u22671\/1000\u306e\u9ad8\u30ea\u30b9\u30af\u96c6\u56e3\u3067\u306f0.53%\u3001\u304a\u3088\u3073\u7b2c\u4e00\u5c64NIPT\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u53d7\u3051\u305f\u96c6\u56e3\u3067\u306f0.65%(\u88687)\u3002<\/p>\n\n\n\n<table>\n      <caption><strong>\u88687.<\/strong> NIPT\u306e\u9069\u5fdc\u306b\u5f93\u3063\u305f\u7d39\u4ecb\u8005\u96c6\u56e3\u306b\u304a\u3051\u308bACAs<\/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>\u6bcd\u96c6\u56e3\u30bf\u30a4\u30d7<\/th>\n            <th>\u969c\u5bb3\u3092\u9664\u304f\u5408\u8a08<\/th>\n            <th>\u30b0\u30eb\u30fc\u30d71+SUA<\/th>\n            <th>\u30b0\u30eb\u30fc\u30d72<\/th>\n            <th>\u30b0\u30eb\u30fc\u30d73<\/th>\n            <th>\u5168ACA\u306e\u6709\u75c5\u7387<\/th>\n            <th>\u30b0\u30eb\u30fc\u30d71+SUA\u306e\u6709\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>\u4e00\u6b21\u5be9\u67fb<\/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\u5150\u30c8\u30ea\u30bd\u30df\u30fc\u307e\u305f\u306f\u89aa\u306e\u30ed\u30d0\u30fc\u30c8\u30bd\u30f3\u8ee2\u5ea7\u306e\u65e2\u5f80\u6b74<\/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\u3001\u975e\u5b9a\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>; MSS\u3001\u6bcd\u4f53\u8840\u6e05\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3002 \u7b2c1\u7fa4\u306b\u306f\u4ee5\u4e0b\u306e\u30c8\u30ea\u30bd\u30df\u30fc\u304c\u542b\u307e\u308c\u308b:\u3053\u308c\u3089\u306e\u30c8\u30ea\u30bd\u30df\u30fc\u306f\u3057\u3070\u3057\u3070\u80ce\u5150\u3092\u5dfb\u304d\u8fbc\u3080\u305f\u3081\u3001\u30c8\u30ea\u30bd\u30df\u30fc8\u30019\u3001\u304a\u3088\u307322\u3002\u7247\u89aa\u6027\u30c0\u30a4\u30bd\u30df\u30fc\u306e\u30ea\u30b9\u30af\u306e\u305f\u3081\u3001\u30c8\u30ea\u30bd\u30df\u30fc14\u304a\u3088\u307315;\u8907\u6570\u306e\u6709\u5bb3\u306a\u598a\u5a20\u8ee2\u5e30\u306e\u30ea\u30b9\u30af\u306e\u305f\u3081\u3001\u30c8\u30ea\u30bd\u30df\u30fc16;\u304a\u3088\u3073\u540c\u7a2e\u67d3\u8272\u4f5312p\u304cPallister.Killian\u75c7\u5019\u7fa4\u3092\u5f15\u304d\u8d77\u3053\u3059\u305f\u3081\u3001\u30c8\u30ea\u30bd\u30df\u30fc12\u3002 \u30b0\u30eb\u30fc\u30d72\u306b\u306f\u30c8\u30ea\u30bd\u30df\u30fc3\u304a\u3088\u30737\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306f\u3057\u3070\u3057\u3070\u6804\u990a\u819c\u7d30\u80de\u3068\u95a2\u9023\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b[37]\u3002 \u30b0\u30eb\u30fc\u30d73\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u30c8\u30ea\u30bd\u30df\u30fc20\u306e\u3088\u3046\u306a\u80ce\u5150\u306b\u5bfe\u3057\u3066\u975e\u75c5\u539f\u6027\u3067\u3042\u308b\u304b\u3001\u307e\u305f\u306f\u4e00\u822c\u306b\u80ce\u76e4\u306b\u4ed8\u7740\u3057\u3066\u3044\u308b\u30c8\u30ea\u30bd\u30df\u30fc\u3092\u542b\u3080\u4ed6\u306e\u3059\u3079\u3066\u306eRAA(\u30c8\u30ea\u30bd\u30df\u30fc1\u30012\u30014\u30015\u30016\u300110\u300111\u300117\u300119\u3001\u304a\u3088\u307320)\u3092\u542b\u3080\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E8%80%83%E5%AF%9F\"><\/span>4. \u8003\u5bdf<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u7a3f\u3067\u306f\u3001\u975e\u5b9a\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u5b58\u5728\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u30a2\u30c3\u30bb\u30a4\u306e\u80fd\u529b\u3092\u8a55\u4fa1\u3057\u305f\u3002 NIPT\u306f\u305d\u308c\u3089\u306e\u691c\u51fa\u306b\u5bfe\u3057\u3066\u9ad8\u5ea6\u306b\u7279\u7570\u7684\u3067\u3042\u308b\u3053\u3068\u304c\u898b\u51fa\u3055\u308c\u3001CPM\u306f\u5358\u4e00\u306e\u507d\u967d\u6027\u547c\u3073\u51fa\u3057\u306b\u5bfe\u3059\u308b\u751f\u7269\u5b66\u7684\u8aac\u660e\u3068\u3057\u3066\u78ba\u8a3c\u3055\u308c\u305f\u3002 \u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306f\u300188.1%(CI 75.00.94.81)\u306e\u611f\u5ea6\u3067\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u96c6\u56e3\u306b\u304a\u3051\u308b\u4e0d\u5747\u8861\u306a\u518d\u914d\u5217\u306e\u5927\u90e8\u5206\u3092\u691c\u51fa\u3057\u3001\u691c\u51fa\u3055\u308c\u305fCNV\u30b5\u30a4\u30ba\u306b\u3064\u3044\u3066\u30a2\u30ec\u30a4\u3068\u826f\u597d\u306a\u76f8\u95a2\u3092\u793a\u3057\u305f\u3002 \u4e00\u822c\u7684\u306a\u30c8\u30ea\u30bd\u30df\u30fc[38]\u3067\u89b3\u5bdf\u3055\u308c\u305f\u611f\u5ea6\u3088\u308a\u3082\u4f4e\u304b\u3063\u305f\u304c\u3001\u507d\u9670\u6027\u7d50\u679c\u306e\u3046\u30613\u3064(\u6b20\u5931\u306e\u5927\u304d\u3055\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u73fe\u8c61\u306e\u7591\u3044\u3001\u304a\u3088\u3073\u8272\u7d20\u9f3b\u54bd\u982d\u75c7)\u306b\u3064\u3044\u3066\u306f\u751f\u7269\u5b66\u7684\u8aac\u660e\u304c\u7591\u308f\u308c\u305f\u3002 \u7279\u7570\u5ea6\u304c\u9ad8\u3044\u305f\u3081\u3001ACA\u306e\u5b58\u5728\u306b\u5bfe\u3057\u3066\u967d\u6027\u7d50\u679c\u3092\u53d7\u3051\u305f\u7d39\u4ecb\u8005\u96c6\u56e3\u306e\u30b5\u30f3\u30d7\u30eb\u6570\u306f\u5c11\u306a\u304b\u3063\u305f(1.2%)\u3002 \u81e8\u5e8a\u73fe\u5834\u3067\u306e\u5931\u6557\u7387\u306f\u3001\u6700\u521d\u306e\u30b5\u30f3\u30d7\u30eb\u304c\u5931\u6557\u3057\u305f\u5834\u5408\u306b\u8ffd\u52a0\u306e\u8840\u6f3f\u30b5\u30f3\u30d7\u30eb\u3092\u5b9f\u884c\u3059\u308b\u80fd\u529b\u304c\u3042\u308b\u305f\u3081\u3001\u3053\u306e\u7814\u7a76\u3067\u89b3\u5bdf\u3055\u308c\u305f\u3082\u306e\u3088\u308a\u3082\u4f4e\u3044\u3068\u4e88\u60f3\u3055\u308c\u308b\u3002 \u8a66\u9a13(\u30d0\u30a4\u30aa\u30d0\u30f3\u30af)\u30b5\u30f3\u30d7\u30eb\u306f\u7d39\u4ecb\u96c6\u56e3\u3088\u308a\u3082\u5728\u80ce\u671f\u9593\u304c\u308f\u305a\u304b\u306b\u9577\u304f\u3001\u4e88\u60f3\u901a\u308a\u3001\u5e73\u5747\u80ce\u5150\u5206\u753b\u304c\u308f\u305a\u304b\u306b\u9ad8\u304b\u3063\u305f\u3002 \u3057\u304b\u3057\u306a\u304c\u3089\u30012\u3064\u306e\u96c6\u56e3\u9593\u306edi.erence\u306f\u81e8\u5e8a\u7684\u306b\u610f\u5473\u304c\u306a\u304f\u3001\u3057\u305f\u304c\u3063\u3066\u3001\u7814\u7a76\u5bfe\u8c61\u96c6\u56e3\u306b\u304a\u3051\u308b\u30d1\u30d5\u30a9\u30fc\u30de\u30f3\u30b9\u306f\u3001\u4e00\u822c\u598a\u5a20\u96c6\u56e3\u3067\u89b3\u5bdf\u3055\u308c\u308b\u3082\u306e\u3068\u985e\u4f3c\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u3002<\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u80ce\u5150\u7570\u6570\u6027\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u4fa1\u5024\u306b\u3064\u3044\u3066\u306f\u30b3\u30f3\u30bb\u30f3\u30b5\u30b9\u304c\u5f97\u3089\u308c\u3066\u3044\u308b\u304c\u3001\u975e\u5178\u578b\u7684\u306a\u80ce\u5150\u5947\u5f62\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u6709\u7528\u6027\u306b\u3064\u3044\u3066\u306f\u4f9d\u7136\u3068\u3057\u3066\u6fc0\u3057\u3044\u8b70\u8ad6\u304c\u3042\u308a[39]\u3001\u81e8\u5e8a\u30b3\u30df\u30e5\u30cb\u30c6\u30a3\u3067\u306f\u8b70\u8ad6\u306e\u4f59\u5730\u304c\u6b8b\u3055\u308c\u3066\u3044\u308b[40]\u3002 \u3053\u308c\u3089\u306eACA\u306e\u4e88\u5f8c\u4e0d\u826f\u304a\u3088\u3073\u8a3a\u65ad\u306e\u6709\u7528\u6027\u304c\u95a2\u9023\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u5834\u5408\u3067\u3042\u3063\u3066\u3082\u3001\u4e00\u822c\u7684\u306b\u3001\u305d\u308c\u3089\u306f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u65b9\u91dd\u306e\u4e00\u90e8\u3068\u306a\u308b\u306b\u306f\u7a00\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u3002 \u5b9f\u969b\u3001\u96c6\u56e3\u306b\u304a\u3051\u308b\u3053\u308c\u3089\u306e\u72b6\u614b\u306e\u6b63\u78ba\u306a\u6709\u75c5\u7387\u306f\u4f9d\u7136\u3068\u3057\u3066\u4e0d\u660e\u3067\u3042\u308a\u3001\u304a\u305d\u3089\u304f\u904e\u5c0f\u8a55\u4fa1\u3055\u308c\u3066\u3044\u308b\u3002\u306a\u305c\u306a\u3089\u3001\u9078\u629e\u3055\u308c\u3066\u3044\u306a\u3044\u5927\u898f\u6a21\u306a\u598a\u5a20\u96c6\u56e3\u3067\u306f\u4fb5\u8972\u7684\u691c\u67fb\u306e\u666e\u53ca\u304c\u5e83\u304f\u884c\u308f\u308c\u3066\u304a\u3089\u305a\u3001\u307e\u305f\u3001\u3053\u308c\u3089\u306e\u7570\u5e38\u306b\u3064\u3044\u3066\u3059\u3079\u3066\u306e\u65b0\u751f\u5150\u3092\u65e5\u5e38\u7684\u306b\u691c\u67fb\u3059\u308b\u7814\u7a76\u3082\u306a\u3044\u304b\u3089\u3067\u3042\u308b\u3002 \u30d5\u30e9\u30f3\u30b9\u306e\u7d30\u80de\u907a\u4f1d\u5b66\u7814\u7a76\u6240\u306e\u6700\u8fd1\u306e\u5831\u544a[31]\u3067\u306f\u3001ACA\u306f\u51fa\u751f\u524d\u306e\u4e0d\u5747\u8861\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e12.25%\u3092\u5360\u3081\u3066\u3044\u305f\u3002 Lindquist\u3089\u306b\u3088\u308b\u3068 [3]\u3001\u51fa\u751f\u5f8c\u306b\u767a\u898b\u3055\u308c\u305f\u53ef\u80fd\u6027\u306e\u3042\u308b\u75c7\u4f8b\u3092\u8003\u616e\u306b\u5165\u308c\u305a\u3001\u5168\u4f53\u7684\u306a\u6709\u75c5\u7387\u306f1\/1000\u3068\u63a8\u5b9a\u3055\u308c\u308b\u3002 \u3055\u3089\u306b\u3001ACA\u306e\u30ea\u30b9\u30af\u306fMSS\u30ea\u30b9\u30af\u30b9\u30b3\u30a2[1.3]\u306b\u4f34\u3063\u3066\u5897\u52a0\u3059\u308b\u3053\u3068\u304c\u793a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u4e8c\u6b21\u691c\u67fb\u3068\u3057\u3066\u306e\u4f7f\u7528\u306f\u3055\u3089\u306b\u91cd\u8981\u3067\u3042\u308b\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u6211\u3005\u306e\u7814\u7a76\u3067\u306f\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u306aNIPT\u306f\u3001\u307e\u308c\u306a\u30c8\u30ea\u30bd\u30df\u30fc\u3084\u30bb\u30b0\u30e1\u30f3\u30c8\u7684\u4e0d\u5747\u8861\u518d\u914d\u5217\u306a\u3069\u306e\u975e\u5b9a\u578b\u80ce\u5150\u7570\u5e38\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u6709\u52b9\u306a\u65b9\u6cd5\u3067\u3042\u308a\u3001\u4e0d\u5fc5\u8981\u306a\u4fb5\u8972\u7684\u51e6\u7f6e\u3092\u5927\u5e45\u306b\u5897\u52a0\u3055\u305b\u308b\u3053\u3068\u306a\u304f\u3001\u3088\u308a\u591a\u304f\u306e\u80ce\u5150\u7570\u5e38\u306e\u691c\u51fa\u3092\u53ef\u80fd\u306b\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u30022 \u3064\u306e\u6226\u7565\u306f\u3001\u6709\u5bb3\u306a\u8ee2\u5e30\u306e\u30ea\u30b9\u30af\u304c\u6700\u3082\u9ad8\u3044\u96c6\u56e3\u3092\u9078\u629e\u3059\u308b\u3053\u3068\u306b\u8ca2\u732e\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002(1)\u4e0a\u8a18\u306e\u7d50\u679c\u306e\u30bb\u30af\u30b7\u30e7\u30f3\u3067\u6982\u8aac\u3057\u305f\u3088\u3046\u306b\u3001MSS\u306e\u7d50\u679c\u306b\u57fa\u3065\u3044\u3066\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u598a\u5a66\u306b\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u306aNIPT\u3092\u63a8\u5968\u3059\u308b\u3053\u3068\u3001\u304a\u3088\u3073(2)\u6709\u5bb3\u8ee2\u5e30\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u9650\u3089\u308c\u305f\u6570\u306eACA\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u3053\u3068\u3067\u3042\u308b\u30022\u756a\u76ee\u306e\u6226\u7565\u306b\u3064\u3044\u3066\u306f\u3001\u4e00\u822c\u7684\u306a\u598a\u5a20\u4e2d\u306e\u96c6\u56e3\u3067\u306f\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u3092\u7528\u3044\u3066ACA\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3046\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u304c\u3001\u6211\u3005\u306f\u3001MSS\u30ea\u30b9\u30af\u30b9\u30b3\u30a2\u304c1\/1000\u4ee5\u4e0a\uff08\u7406\u8ad6\u7684\u306aPPV\u306f32\uff5e64\uff05\uff09\u306e\u598a\u5a66\u306b\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u306e\u5b9f\u65bd\u3092\u5236\u9650\u3059\u308b\u3053\u3068\u3092\u63d0\u6848\u3057\u3066\u3044\u307e\u3059\u3002\u30d5\u30e9\u30f3\u30b9\u3067\u306f\u3001\u67d3\u8272\u4f53\u518d\u914d\u5217\u306e\u65e2\u5f80\u6b74\u306e\u306a\u3044\u5358\u8eab\u598a\u5a20\u306e\u5834\u5408\u3001NIPT\u306fMSS\u30ea\u30b9\u30af\u30b9\u30b3\u30a2\u3092\u6761\u4ef6\u3068\u3057\u305f\u7b2c2\u5c64\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3067\u3042\u308b\u305f\u3081\u3001\u3053\u306e\u63a8\u5968\u304c\u53ef\u80fd\u3067\u3042\u308b\u3002\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u306aNIPT\u3092\u9ad8\u30ea\u30b9\u30af\u306eMSS\u30b9\u30b3\u30a2\u3092\u6301\u3064\u598a\u5a66\u306b\u5236\u9650\u3059\u308b\u3053\u3068\u306f\u3001\u30e8\u30fc\u30ed\u30c3\u30d1\u306e\u5317\u6b27\u8af8\u56fd\u3001\u30dd\u30fc\u30e9\u30f3\u30c9\u3001\u30eb\u30fc\u30de\u30cb\u30a2\u3001\u30a4\u30bf\u30ea\u30a2\u3001\u30aa\u30fc\u30b9\u30c8\u30e9\u30ea\u30a2\u306a\u3069\u306e\u4ed6\u306e\u56fd\u3067\u3082\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059[41]\u3002\u4ed6\u306e\u56fd\u3067\u306f\u3001\u9078\u629e\u3055\u308c\u3066\u3044\u306a\u3044\u96c6\u56e3\u3067\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u306ecfDNA\u89e3\u6790\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3092\u9078\u629e\u3057\u3066\u3082\u3088\u3044\u3067\u3057\u3087\u3046\u3002\u56fd\u306b\u3088\u3063\u3066NIPT\u3078\u306e\u30a2\u30d7\u30ed\u30fc\u30c1\u65b9\u6cd5\u306b\u306f\u5927\u304d\u306a\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u3001\u4e00\u90e8\u306e\u56fd\u3067\u306f\u7b2c\u4e00\u6bb5\u968e\u306e\u9078\u629e\u80a2\u3068\u3057\u3066NIPT\u3092\u63a8\u5968\u3057\u3001\u4ed6\u306e\u56fd\u3067\u306f\u5076\u767a\u30e2\u30c7\u30eb\u306e\u4e00\u90e8\u3068\u3057\u3066NIPT\u3092\u63a8\u5968\u3057\u3066\u3044\u307e\u3059\u3002Benachi\u3089[42]\u306f\u3001\u6b27\u5dde\u306e\u533b\u7642\u5f93\u4e8b\u8005\u3092\u5bfe\u8c61\u3068\u3057\u305f\u8abf\u67fb\u7d50\u679c\u3092\u5831\u544a\u3057\u3066\u304a\u308a\u3001\u7a00\u306a\u5e38\u67d3\u8272\u4f53\u30c8\u30ea\u30bd\u30df\u30fc\u3084\u30b3\u30d4\u30fc\u6570\u5909\u52d5\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306a\u3069\u3001NIPT\u306e\u9078\u629e\u80a2\u3092\u62e1\u5927\u3059\u308b\u3053\u3068\u306b\u95a2\u3057\u3066\u3001\u5404\u56fd\u306e\u533b\u7642\u5f93\u4e8b\u8005\u306e\u9593\u3067\u5927\u304d\u306a\u9055\u3044\u304c\u3042\u308b\u3053\u3068\u3092\u5f37\u8abf\u3057\u3066\u3044\u307e\u3059\u3002\u56fd\u30ec\u30d9\u30eb\u3067\u306eNIPT\u306e\u511f\u9084\u306f\u3001\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u8cb4\u91cd\u306a\u4e00\u90e8\u3068\u306a\u308b\u3067\u3057\u3087\u3046\u304c\u3001\u73fe\u5728\u306e\u3068\u3053\u308d\u3001NIPT\u306b\u8cc7\u91d1\u3092\u63d0\u4f9b\u3059\u308b\u56fd\u307e\u305f\u306f\u5730\u57df\u306e\u511f\u9084\u30d7\u30ed\u30b0\u30e9\u30e0\u3092\u6301\u3064\u56fd\u306a\u3069\u3001\u7279\u5b9a\u306e\u56fd\u3067\u306e\u307f\u53ef\u80fd\u3067\u3042\u308b\u3053\u3068\u306b\u3082\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002\u4ed6\u306e\u56fd\u3067\u306f\u3001\u60a3\u8005\u304cNIPT\u306e\u8cbb\u7528\u3092\u652f\u6255\u3046\u5fc5\u8981\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3001\u307e\u305f\u306f\u305d\u308c\u306f\u60a3\u8005\u306e\u5065\u5eb7\u4fdd\u967a\u3067\u30ab\u30d0\u30fc\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7b2c2\u306e\u6226\u7565\u306b\u3064\u3044\u3066\u306f\u3001\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u7570\u6570\u4f53\u30923\u3064\u306e\u30b0\u30eb\u30fc\u30d7\u306b\u5206\u985e\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3002\u30b0\u30eb\u30fc\u30d71\u306f\u3001\u80ce\u5150\u306b\u6700\u3082\u591a\u304f\u95a2\u4e0e\u3059\u308b\u30c8\u30ea\u30bd\u30df\u30fc8\u30019\u300122\u3001\u30c8\u30ea\u30bd\u30df\u30fc14\u300115\u306f\u4e00\u89aa\u4e0d\u548c\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u30c8\u30ea\u30bd\u30df\u30fc16\u306f\u8907\u6570\u306e\u6709\u5bb3\u306a\u598a\u5a20\u8ee2\u5e30\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u30c8\u30ea\u30bd\u30df\u30fc12\u306f\u30a2\u30a4\u30bd\u30af\u30ed\u30e2\u30be\u30fc\u30e012p\u304cPallister-Killian\u75c7\u5019\u7fa4\u3092\u5f15\u304d\u8d77\u3053\u3059\u305f\u3081\u3001\u30c8\u30ea\u30bd\u30df\u30fc12\u3092\u542b\u3080\u30c8\u30ea\u30bd\u30df\u30fc\u3067\u3042\u308b\u3002\u30b0\u30eb\u30fc\u30d72\u306b\u306f\u3001\u7d30\u80de\u6804\u990a\u7d30\u80de\u306b\u6700\u3082\u983b\u7e41\u306b\u7d50\u5408\u3059\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u308b\u30c8\u30ea\u30bd\u30df\u30fc\u3001\u3059\u306a\u308f\u3061\u30c8\u30ea\u30bd\u30df\u30fc3\u30687\u304c\u542b\u307e\u308c\u3066\u3044\u308b[37]\u3002\u30b0\u30eb\u30fc\u30d73\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u578b\u30c8\u30ea\u30bd\u30df\u30fc20\u306e\u3088\u3046\u306a\u80ce\u5150\u306b\u3068\u3063\u3066\u975e\u75c5\u539f\u6027\u306e\u30c8\u30ea\u30bd\u30df\u30fc\u3001\u307e\u305f\u306f\u4e00\u822c\u7684\u306b\u80ce\u76e4\u306b\u7d50\u5408\u3057\u3066\u3044\u308b\u30c8\u30ea\u30bd\u30df\u30fc\u3092\u542b\u3080\u3001\u4ed6\u306e\u3059\u3079\u3066\u306eRAA\u3067\u69cb\u6210\u3055\u308c\u3066\u3044\u308b\u3002\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u306f\u4e00\u5b9a\u306e\u6709\u75c5\u7387\u306e\u7570\u5e38\u3092\u691c\u51fa\u3057\u306a\u3051\u308c\u3070\u306a\u3089\u306a\u3044\u306e\u3067\u3001\u30b0\u30eb\u30fc\u30d71\u306e\u307f\u306eRAA\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u306f\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u3092\u4f7f\u7528\u3059\u308b\u3053\u3068\u3092\u63a8\u5968\u3057\u307e\u3059\u3002\u6211\u3005\u306e\u30b3\u30db\u30fc\u30c8\u3067\u306f\u3001\u6570\u304c\u5c11\u306a\u3059\u304e\u3066\u6c7a\u5b9a\u7684\u306a\u7d50\u8ad6\u3092\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u306a\u304b\u3063\u305f\u3068\u3057\u3066\u3082\u30015\u3064\u306e\u7570\u5e38\u306e\u3046\u30614\u3064\u304c\u30b0\u30eb\u30fc\u30d72\u30683\u306b\u5c5e\u3057\u3066\u3044\u305f\u306e\u3067\u3001\u3053\u306e\u6226\u7565\u306f\u4f4e\u30ea\u30b9\u30af\u96c6\u56e3\uff08\u7b2c1\u5c64\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff09\u3067\u306f\u7279\u306b\u8208\u5473\u6df1\u3044\u3082\u306e\u3067\u3042\u308b\u3002\u30aa\u30e9\u30f3\u30c0\u306eNIPT\u30b3\u30f3\u30bd\u30fc\u30b7\u30a2\u30e0[28]\u306e\u6700\u8fd1\u306e\u7814\u7a76\u3067\u767a\u8868\u3055\u308c\u305f\u30b3\u30db\u30fc\u30c8\u3092\u518d\u5206\u6790\u3059\u308b\u3068\u3001101\u4f8b\u3067\u306f\u306a\u304f47\u4f8b\u306e\u5973\u6027\u3060\u3051\u304cRAAs\u306eNIPT\u967d\u6027\u30b3\u30fc\u30eb\u3092\u53d7\u3051\u3066\u304a\u308a\u3001\u80ce\u5150\u306eRAAs\u3092\u6709\u3059\u308b\u3059\u3079\u3066\u306e\u75c7\u4f8b\u304c\u8a3a\u65ad\u3055\u308c\u3066\u3044\u305f\u3067\u3042\u308d\u3046\u3002\u6211\u3005\u306e\u7814\u7a76\u3067\u306f\u3001SUA\u3068\u30c8\u30ea\u30bd\u30df\u30fc8\u30019\u300112\u300114\u300115\u300116\u300122\u306e\u307f\u3092\u30bf\u30fc\u30b2\u30c3\u30c8\u306b\u3059\u308b\u3068\u30010.57\uff05\uff0817\/3007\uff09\u306e\u967d\u6027NIPT\u30b3\u30fc\u30eb\u7387\u304c\u5f97\u3089\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<p>\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u306e\u611f\u5ea6\u306f\u3001\u7279\u306b\u30de\u30a4\u30af\u30ed\u6b20\u5931\/\u91cd\u8907\u304c\u983b\u7e41\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u3044\u3046\u4e8b\u5b9f\u3092\u8003\u3048\u308b\u3068\u3001\u8d85\u97f3\u6ce2\u7570\u5e38\u306e\u3042\u308b\u80ce\u5150\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u305f\u3081\u306bNIPT\u3092\u63a8\u5968\u3059\u308b\u307b\u3069\u9ad8\u304f\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3057\u305f\u304c\u3063\u3066\u3001\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u80ce\u5150\u306e\u69cb\u9020\u7570\u5e38\u304c\u8a8d\u3081\u3089\u308c\u305f\u60a3\u8005\u306b\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u89e3\u6790\u306b\u3088\u308b\u8a3a\u65ad\u7684\u4fb5\u8972\u7684\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u3092\u63a8\u5968\u3059\u308b\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u7814\u7a76\u306e\u4e3b\u306a\u5f37\u307f\u306e\u4e00\u3064\u306f\u3001\u4e00\u822c\u7684\u306a\u30c8\u30ea\u30bd\u30df\u30fc\u4ee5\u5916\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u5f71\u97ff\u3092\u53d7\u3051\u305f\u30b5\u30f3\u30d7\u30eb\u3092\u5229\u7528\u3067\u304d\u308b\u3053\u3068\u3068\u3001\u3059\u3079\u3066\u306e\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u30b5\u30f3\u30d7\u30eb\u306e\u80ce\u5150\u6838\u578b\u304c\u65e2\u77e5\u3067\u3042\u3063\u305f\u3053\u3068\u3067\u3042\u308b\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u771f\u306e\u7814\u7a76\u306e\u7279\u7570\u6027\u3068\u611f\u5ea6\u3092\u6c7a\u5b9a\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u305f\u3002\u6211\u3005\u306f99.32\uff05\uff08CI 96.22-99.88\uff09\u3068\u3044\u3046\u9ad8\u3044\u7279\u7570\u5ea6\u3092\u89b3\u5bdf\u3057\u3001NIPT\u306b\u3088\u308b\u507d\u967d\u6027\u7d50\u679c\u306f1\u4ef6\u306e\u307f\u3067\u3001CPM\u304c\u539f\u56e0\u3067\u3042\u308b\u3068\u5224\u65ad\u3055\u308c\u307e\u3057\u305f\uff1bCPM\u306fNIPT\u306e\u81e8\u5e8a\u7684\u7279\u7570\u5ea6\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u751f\u7269\u5b66\u7684\u56e0\u5b50\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u65e5\u5e38\u7684\u306a\u598a\u5a20\u30b5\u30f3\u30d7\u30eb\u306e\u7d39\u4ecb\u96c6\u56e3\u3092\u5229\u7528\u3067\u304d\u308b\u3053\u3068\u3082\u5f37\u307f\u3067\u3057\u305f\u3002\u3053\u306e\u6bcd\u96c6\u56e3\u3068\u30bb\u30c3\u30c8\u6226\u7565\u3092\u4f7f\u7528\u3057\u3066\u3001\u5168\u30b2\u30ce\u30e0NIPT\u306e\u4f7f\u7528\u306f\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u5bfe\u3059\u308b\u5178\u578b\u7684\u306a\u8b70\u8ad6\u3067\u3042\u308b\u4e0d\u5fc5\u8981\u306a\u4fb5\u8972\u7684\u8a3a\u65ad\u624b\u9806\u306e\u5927\u5e45\u306a\u5897\u52a0\u3092\u3082\u305f\u3089\u3055\u306a\u3044\u3053\u3068\u3092\u793a\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3057\u305f\u3002\u3053\u3053\u3067\u306f\u3001ACA\u306e\u5b58\u5728\u306b\u5bfe\u3059\u308bNIPT\u967d\u6027\u30b3\u30fc\u30eb\u7387\u306f1.2%\u3092\u8d85\u3048\u3066\u304a\u3089\u305a\u3001\u3053\u308c\u306f\u4ed6\u306e\u7814\u7a76[33]\u306b\u5339\u6575\u3057\u307e\u3059\u3002\u3055\u3089\u306b\u3001\u6700\u3082\u6709\u610f\u306aACA\u3092\u9078\u629e\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u967d\u6027\u30b3\u30fc\u30eb\u7387\u30920.57\uff05\u306b\u4f4e\u6e1b\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7814\u7a76\u306e\u9650\u754c\u306e1\u3064\u306f\u3001\u3053\u308c\u304c\u9078\u629e\u3055\u308c\u305f\u598a\u5a20\u30b5\u30f3\u30d7\u30eb\u306e\u30bb\u30c3\u30c8\u3067\u3042\u3063\u305f\u305f\u3081\u3001\u3088\u308a\u5927\u304d\u306a\u4e00\u822c\u7684\u306a\u598a\u5a20\u96c6\u56e3\u3092\u771f\u306b\u4ee3\u8868\u3059\u308b\u3082\u306e\u3067\u306f\u306a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3044\u3046\u3053\u3068\u3067\u3057\u305f\u3002\u6700\u8fd1\u306e\u4ed6\u306e\u51fa\u7248\u7269\u3067\u306f\u3001\u5c11\u306a\u304f\u3068\u308210,000\u4eba\u4ee5\u4e0a\u306e\u60a3\u8005\u96c6\u56e3\u306b\u304a\u3051\u308b\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u306aNIPT\u3092\u8abf\u3079\u3066\u3044\u307e\u3059[5,6,34,43]\u304c\u300150,000\u4eba\u4ee5\u4e0a\u306e\u60a3\u8005\u96c6\u56e3\u304b\u3089\u306e\u7d50\u679c\u3092\u5831\u544a\u3057\u3066\u3044\u308b\u51fa\u7248\u7269\u3082\u3044\u304f\u3064\u304b\u3042\u308a\u307e\u3059[28,44,45]\u3002\u3057\u304b\u3057\u3001\u6211\u3005\u306e\u7814\u7a76\u96c6\u56e3\u3067\u89b3\u5bdf\u3055\u308c\u305f\u30a2\u30c3\u30bb\u30a4\u4e0d\u6210\u529f\u7387\u304a\u3088\u3073FF\u5206\u5e03\u306f\u3001\u7d39\u4ecb\u5148\u96c6\u56e3\u3067\u89b3\u5bdf\u3055\u308c\u305f\u3082\u306e\u3068\u4e00\u81f4\u3057\u3066\u304a\u308a\u3001\u30c7\u30fc\u30bf\u304c\u4ee3\u8868\u7684\u306a\u3082\u306e\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u5506\u3057\u3066\u3044\u308b\u3002\u672c\u7814\u7a76\u306e\u3082\u3046\u4e00\u3064\u306e\u9650\u754c\u306f\u3001\u7d39\u4ecb\u96c6\u56e3\u306e\u6838\u578b\u304a\u3088\u3073\u81e8\u5e8a\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u60c5\u5831\u304c\u306a\u3044\u3053\u3068\u3067\u3042\u3063\u305f\u3002\u7d39\u4ecb\u96c6\u56e3\u306e\u76ee\u7684\u306f\u3001\u4fb5\u8972\u7684\u624b\u6280\u306e\u6f5c\u5728\u7684\u306a\u5897\u52a0\u3092\u8a08\u7b97\u3059\u308b\u3053\u3068\u3060\u3051\u3067\u3057\u305f\u304c\u3001\u3053\u306e\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u30a2\u30c3\u30bb\u30a4\u306e\u6b63\u8ca0\u306e\u4e88\u6e2c\u5024\u3092\u6c7a\u5b9a\u3057\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u304c\u8cbb\u7528\u5bfe\u52b9\u679c\u306e\u9ad8\u3044\u3082\u306e\u304b\u3069\u3046\u304b\u3092\u8abf\u67fb\u3059\u308b\u305f\u3081\u306b\u3001\u305d\u306e\u60c5\u5831\u3092\u6301\u3064\u3053\u3068\u306f\u8208\u5473\u6df1\u3044\u3053\u3068\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3055\u307e\u3056\u307e\u306a\u598a\u5a20\u5408\u4f75\u75c7\u3092\u5bfe\u8c61\u3068\u3057\u305f\u5927\u898f\u6a21\u306a\u7814\u7a76\u306b\u3088\u308a\u3001\u3069\u306eRAA\u304cNIPT\u3067\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3055\u308c\u308b\u3079\u304d\u304b\u306b\u3064\u3044\u3066\u306e\u3055\u3089\u306a\u308b\u60c5\u5831\u304c\u5f97\u3089\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u304c\u3001\u591a\u80ce\u598a\u5a20\u306e\u7a00\u306a\u80ce\u5150\u7570\u5e38\u306e\u691c\u51fa\u306b\u6709\u52b9\u306a\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u9078\u629e\u80a2\u306b\u306a\u308b\u304b\u3069\u3046\u304b\u3092\u5224\u65ad\u3059\u308b\u305f\u3081\u306b\u3001\u3055\u3089\u306a\u308b\u7814\u7a76\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/7q21-3-q-31-1-duplication\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u7d14\u7c8b\u306a\u9593\u8cea\u60277q21.3-q 31.1\u91cd\u8907: \u307e\u308c\u306a\u5206\u7bc0\u6027\u30b2\u30ce\u30e0\u7570\u6570\u6027: \u75c7\u4f8b\u5831\u544a\u3068\u9060\u4f4d\u304a\u3088\u3073\u985e\u4f3c\u306e\u5206\u7bc0\u304c\u95a2\u4e0e\u3057\u305f\u75c7\u4f8b\u306e\u30ec\u30d3\u30e5\u30fc <\/div>\n          <div class=\"blog-card-excerpt\">\u7d14\u7c8b\u306a\u9593\u8449\u7cfb7q21.3-q 31.1\u91cd\u8907\uff0f\u307e\u308c\u306a\u5206\u5272\u578b\u30b2\u30ce\u30e0\u7570\u6570\u6027\uff0f\u75c7\u4f8b\u5831\u544a\u304a\u3088\u3073\u9060\u9694\u304a\u3088\u3073\u985e\u4f3c\u306e\u5206\u5272\u95a2\u9023\u75c7\u4f8b\u306e\u75c7\u4f8b\u691c\u8a0e\u3002...<\/div>\n      <\/div>\n    <\/a>\n\n\n<div class=\"custom-html\"><div class=\"category_btn btn_type_01\">\n<a href=\"https:\/\/www.hiro-clinic.or.jp\/app\/registration\/\"><\/p>\n<div class=\"category_btn_inner\">\n<p class=\"ttl-txt\">\u78ba\u304b\u306a\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u9078\u629e<br \/>\u5b89\u5fc3\u306e<span>NIPT\u691c\u67fb<\/span><\/p>\n<p class=\"btn\">\u3054\u4e88\u7d04\u306f\u3053\u3061\u3089<\/p>\n<\/div>\n<p><\/a>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E7%B5%90%E8%AB%96\"><\/span>5. \u7d50\u8ad6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u7d50\u8ad6\u3068\u3057\u3066\u3001\u672c\u7814\u7a76\u306f\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u30a2\u30c3\u30bb\u30a4\u304c\u598a\u5a66\u306b\u304a\u3051\u308bACA\u306e\u5b58\u5728\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u305f\u3081\u306e\u6709\u52b9\u306a\u975e\u4fb5\u8972\u7684\u65b9\u6cd5\u3067\u3042\u308b\u3053\u3068\u3092\u793a\u3057\u305f\u3002\u6211\u3005\u306f\u3001\u6700\u3082\u6709\u610f\u306a\u67d3\u8272\u4f53\u30c8\u30ea\u30bd\u30df\u30fc\u3068SUA\u306e\u307f\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u3053\u3068\u3092\u63d0\u6848\u3059\u308b\u3002\u30d5\u30e9\u30f3\u30b9\u3067\u306f\u3001\u9ad8\u30ea\u30b9\u30af\u306eMSS\u306e\u7d50\u679c\u304c\u51fa\u305f\u5f8c\u3001\u6b63\u5e38\u306a\u8d85\u97f3\u6ce2\u691c\u67fb\u6240\u898b\u3092\u6301\u3064\u3059\u3079\u3066\u306e\u598a\u5a66\u306b\u5bfe\u3057\u3066\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u306aNIPT\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3092\u691c\u8a0e\u3059\u308b\u3053\u3068\u3092\u63d0\u6848\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A3%9C%E8%B6%B3%E8%B3%87%E6%96%99\"><\/span>\u88dc\u8db3\u8cc7\u6599<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>http:\/\/www.mdpi.com\/2077-0383\/9\/8\/2466\/s1, Table S1: \u30b3\u30db\u30fc\u30c8A\u306e42\u306e\u7570\u5e38\u691c\u4f53\u306e\u6982\u8981\u3092\u30aa\u30f3\u30e9\u30a4\u30f3\u4e0a\u3067\u3054\u89a7\u3044\u305f\u3060\u3051\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%91%97%E8%80%85%E3%81%AE%E8%B2%A2%E7%8C%AE\"><\/span>\u8457\u8005\u306e\u8ca2\u732e:<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6982\u5ff5\u5316\u3001P.K.\u3001L.L\u3002\u304a\u3088\u3073J.M.C\u3002; \u65b9\u6cd5\u8ad6\u3001P.K.\u3001L.L.\u3001A.B\u3002 \uff08\u30a2\u30ec\u30af\u30b5\u30f3\u30c9\u30e9\u30d9\u30ca\u30c1\uff09\u3068J.M.C\u3002; \u691c\u8a3c\u3001P.K.\u3001L.L.\u3001A.B\u3002 \uff08\u30a2\u30ec\u30af\u30b5\u30f3\u30c9\u30e9\u30d9\u30ca\u30c1\uff09\u3068J.M.C\u3002; \u8abf\u67fb\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 \uff08Aicha Boughalem\uff09\u3001M.V.\u3001F.H.\u3001A.B\u3002 \uff08\u30a2\u30ec\u30af\u30b5\u30f3\u30c9\u30e9\u30d9\u30ca\u30c1\uff09\u3001\u304a\u3088\u3073J.M.C\u3002; \u30ea\u30bd\u30fc\u30b9\u3001P.K.\u3001L.L.\u3001A.L.\u3001D.T.\u3001A.B\u3002 \uff08Aicha Boughalem\uff09\u3001M.V\u3002 \u304a\u3088\u3073J.M.C .; \u57f7\u7b46\u5143\u306e\u30c9\u30e9\u30d5\u30c8\u306e\u6e96\u5099\u3001P.K.\u3001A.B\u3002 \uff08\u30a2\u30ec\u30af\u30b5\u30f3\u30c9\u30e9\u30d9\u30ca\u30c1\uff09; \u57f7\u7b46\u3001\u30ec\u30d3\u30e5\u30fc\u3001\u7de8\u96c6\u3001P.K.\u3001A.B\u3002 \uff08\u30a2\u30ec\u30af\u30b5\u30f3\u30c9\u30e9\u30d9\u30ca\u30c1\uff09\u3001\u304a\u3088\u3073J.M.C\u3002; \u76e3\u7763\uff1aP.K.\u3001A.B\u3002 \uff08\u30a2\u30ec\u30af\u30b5\u30f3\u30c9\u30e9\u30d9\u30ca\u30c1\uff09\u3068J.M.C\u3002; \u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u7ba1\u7406\u3001\n      P.K. \u304a\u3088\u3073F.H.\u3059\u3079\u3066\u306e\u8457\u8005\u306f\u3001\u516c\u958b\u3055\u308c\u305f\u539f\u7a3f\u3092\u8aad\u307f\u3001\u540c\u610f\u3057\u307e\u3057\u305f\u3002\n   <\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%B3%87%E9%87%91%E8%AA%BF%E9%81%94\"><\/span>\u8cc7\u91d1\u8abf\u9054:<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u7814\u7a76\u306f\u5916\u90e8\u304b\u3089\u306e\u8cc7\u91d1\u3092\u53d7\u3051\u3066\u3044\u306a\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%AC%9D%E8%BE%9E\"><\/span>\u8b1d\u8f9e:<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8457\u8005\u3089\u306f\u3001Nicole Joye (Hopital Trousseau, Paris)\u304a\u3088\u3073Elisabeth Simom (Fofation Lenval, Nice) \u3068\u3068\u3082\u306b\u3001\u30d0\u30a4\u30aa\u30d0\u30f3\u30af\u30b5\u30f3\u30d7\u30eb\u306e\u63a1\u53d6\u306b\u5354\u529b\u3057\u3066\u304f\u3060\u3055\u3063\u305fKristine Jinnett (Ilumina, Inc.) \u306b\u3001\u672c\u7a3f\u306e\u4f5c\u6210\u306b\u3054\u5354\u529b\u3044\u305f\u3060\u3044\u305f\u3053\u3068\u306b\u611f\u8b1d\u3059\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%A9%E5%AE%B3%E9%96%A2%E4%BF%82%E3%81%AE%E7%A2%BA%E8%AA%8D\"><\/span>\u5229\u5bb3\u95a2\u4fc2\u306e\u78ba\u8a8d:<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8457\u8005\u3089\u306f\u3001\u95a2\u5fc3\u306e\u3042\u308b\u3053\u3068\u306e\u78ba\u8a8d\u306f\u3057\u306a\u3044\u3068\u5ba3\u8a00\u3059\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%8F%82%E8%80%83%E6%96%87%E7%8C%AE\"><\/span>\u53c2\u8003\u6587\u732e<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-trimester combined screening\u306f\u3001\u598a\u5a2011\uff5e12\u9031\u306b\u304a\u3051\u308b\u67d3\u8272\u4f53\u4e0d\u5747\u8861\u8ee2\u5ea7\u306e\u691c\u51fa\u306b\u6709\u52b9\u3067\u3042\u308b\u3002 \u5f8c\u6094\u3059\u308b\u3002 Sci. 2014, 21, 594-600. [CrossRef] <\/li>\n\n\n\n<li>Toring, N.; Petersen, O.B.; Becher, N.; Vogel, I.; Uldbjerg, N. 21, 18, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u4ee5\u5916\u306e\u30c8\u30ea\u30bd\u30df\u30fc\u306b\u5bfe\u3059\u308b\u598a\u5a20\u521d\u671f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3002 \u51fa\u751f\u524d\u3002Diagn. 2015, 35, 612-619. [CrossRef] <\/li>\n\n\n\n<li>Lindquist, A.; Poulton, A.; Halliday, J.; Hui, L. <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u691c\u67fb\u304a\u3088\u3073\u598a\u5a20\u521d\u671f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u7d44\u307f\u5408\u308f\u305b\u5f8c\u306e\u975e\u5b9a\u578b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>: \u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u5076\u767a\u7684\u30e2\u30c7\u30eb\u306b\u5bfe\u3059\u308b\u610f\u5473\u5408\u3044\u3002 \u8d85\u97f3\u6ce2\u691c\u67fb\u3002 Gynecol. 2018, 51, 487-492. [CrossRef] <\/li>\n\n\n\n<li>Bianchi, D.W.; Chiu, R.W.K. \u598a\u5a20\u4e2d\u306e\u5faa\u74b0\u7121\u7d30\u80deDNA\u306e\u914d\u5217\u6c7a\u5b9a N. Engl. J. Med. 2018, 379, 464-473. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Fiorentino\u3001F.;Bono\u3001S.;Pizzuti\u3001F.;Duca\u3001S.;Polverari\u3001A.;Faieta\u3001M.;Baldi\u3001M.;Diano\u3001L.;Spinella\u3001F.;\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u975e\u4fb5\u8972\u6027\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u81e8\u5e8a\u7684\u6709\u7528\u6027\u3002 \u51fa\u751f\u524d\u3002  Diagn. 2017, 37, 593-601. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Liang, D.\u3001 Lin, Y.\u3001 Qiao, F.\u3001 Li, H.\u3001 Wang, Y.\u3001 Zhang, J.\u3001 Liu, A.\u3001 Ji, X.\u3001 Ma, D.\u3001 Jiang, T.\u3001\u4ed6 32,000\u4eba\u3092\u8d85\u3048\u308b\u5973\u6027\u306b\u304a\u3051\u308b\u7121\u7d30\u80deDNA\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u5f8c\u306e\u5468\u7523\u671f\u306e\u8ee2\u5e30:\u5358\u4e00\u306e\u4e09\u6b21\u65bd\u8a2d\u304b\u3089\u306e\u81e8\u5e8a\u8ffd\u8de1\u30c7\u30fc\u30bf\u3002 Diagn. 2018, 38, 755-764. [CrossRef] <\/li>\n\n\n\n<li>Akolekar, R.; Beta, J.; Picciarelli, G.; Ogilvie, C.; D&#8217;Antonio, F. \u7f8a\u6c34\u7a7f\u523a\u304a\u3088\u3073\u7d68\u6bdb\u30b5\u30f3\u30d7\u30ea\u30f3\u30b0\u5f8c\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u306b\u95a2\u9023\u3057\u305f\u30ea\u30b9\u30af:\u7cfb\u7d71\u7684\u30ec\u30d3\u30e5\u30fc\u304a\u3088\u3073\u30e1\u30bf\u30a2\u30ca\u30ea\u30b7\u30b9\u3002 \u8d85\u97f3\u6ce2\u691c\u67fb\u3002 Gynecol. 2015, 45, 16-26. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Solomon, L.J.; Sotiriadis, A.;Wul., C.B.; Odibo, A.; Akolekar, R. \u7f8a\u6c34\u7a7f\u523a\u307e\u305f\u306f\u7d68\u6bdb\u30b5\u30f3\u30d7\u30ea\u30f3\u30b0\u5f8c\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/abortion\/\">\u6d41\u7523<\/a>\u306e\u30ea\u30b9\u30af:\u6587\u732e\u306e\u7cfb\u7d71\u7684\u30ec\u30d3\u30e5\u30fc\u304a\u3088\u3073\u6700\u65b0\u306e\u30e1\u30bf\u30a2\u30ca\u30ea\u30b7\u30b9\u3002 \u8d85\u97f3\u6ce2\u691c\u67fb\u3002 Gynecol. 2019, 54, 442-451. [CrossRef] <\/li>\n\n\n\n<li>Michael, T.;Natalia, S.-L.;James, M.;Jg, B.; Yuri, N.; Andreas, S.W.; Gregor, S. Mid-trimester\u65e9\u671f\u7834\u6c34(PPROM):\u75c5\u56e0\u3001\u8a3a\u65ad\u3001\u5206\u985e\u3001\u6cbb\u7642\u9078\u629e\u80a2\u304a\u3088\u3073\u8ee2\u5e30\u306b\u95a2\u3059\u308b\u56fd\u969b\u7684\u63a8\u5968\u4e8b\u9805\u3002 J. Perinat. Med. 2018, 46, 465-488. [CrossRef] <\/li>\n\n\n\n<li>Cederholm, M.; Haglund, B.; Axelsson, O. \u7f8a\u6c34\u7a7f\u523a\u304a\u3088\u3073\u51fa\u751f\u524d\u6838\u578b\u5224\u5b9a\u306e\u305f\u3081\u306e\u7d68\u6bdb\u30b5\u30f3\u30d7\u30ea\u30f3\u30b0\u5f8c\u306e\u6bcd\u4f53\u5408\u4f75\u75c7\u3002 BJOG 2003, 110, 392-399. [CrossRef] <\/li>\n\n\n\n<li>Norton, M.E.; Baer, R.J.; Wapner, R.J.; Kuppermann, M.; Jelli.e-Pawlowski, L.L.; Currier, R.J. Cell-free DNA vs \u80ce\u5150<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u691c\u51fa\u306e\u305f\u3081\u306e\u9023\u7d9a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3002 \u7c73\u56fd J\u30fb\u30aa\u30d6\u30b9\u30c6\u30c3\u30c8Gynecol. 2016, 214, e1-e6. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Sehnert, A.J.; Rhees, B.; Comstock, D.; de Feo, E.; Heilek, G.; Burke, J.; Rava, R.P. \u6bcd\u4f53\u8840\u6db2\u304b\u3089\u306e\u7121\u7d30\u80de\u80ce\u5150DNA\u306e\u5927\u898f\u6a21\u4e26\u884c\u914d\u5217\u6c7a\u5b9a\u306b\u3088\u308b\u80ce\u5150<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u6700\u9069\u691c\u51fa\u3002 Clin. Chem. 2011, 57, 1042-1049. [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. \u3089\u3002 \u6bcd\u4f53\u8840\u6db2\u4e2d\u306eDNA\u306e\u914d\u5217\u6c7a\u5b9a\u306b\u3088\u308b\u80ce\u515021\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u975e\u4fb5\u8972\u7684\u691c\u51fa:\u81e8\u5e8a\u72b6\u6cc1\u306b\u304a\u3051\u308b\u7814\u7a76\u3002 \u7c73\u56fd J\u30fb\u30aa\u30d6\u30b9\u30c6\u30c3\u30c8 \u5a66\u4eba\u79d1\u3002 2011\u5e74\u3001204\u4eba\u3001e1-e11\u3002 [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Jensen\u3001T.J.;Zwiefelhofer\u3001T.;Tim\u3001R.C.;Dzakula\u3001Z.;Kim\u3001S.K.;Mazloom\u3001A.R.;Zhu\u3001Z.;Tynan\u3001J.;Lu\u3001T.;McLennan\u3001G.; \u6bcd\u4f53\u8840\u6f3f\u304b\u3089\u306e\u80ce\u5150\u7570\u6570\u6027\u691c\u51fa\u306e\u305f\u3081\u306e\u30cf\u30a4\u30b9\u30eb\u30fc\u30d7\u30c3\u30c8\u4e26\u884c\u914d\u5217\u6c7a\u5b9a\u3002PLoS ONE 2013, 8, e57381. [CrossRef] <\/li>\n\n\n\n<li>Juneau,K.;Bogard,P.E.;Huang,S.;Mohseni,M.;Wang,E.T.;Ryvkin,P.;Kingsley,C.;Struble,C.A.;Oliphant,A.;Zahn,J.M.Microarray\u306b\u57fa\u3065\u304f\u7121\u7d30\u80deDNA\u5206\u6790\u306f\u3001\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3092\u6539\u5584\u3059\u308b\u3002 \u80ce\u5150\u8a3a\u65ad\u3002 Ther. 2014, 36, 282-286. [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.; et al. \u591a\u578b\u907a\u4f1d\u5b50\u5ea7\u306e\u6a19\u7684\u914d\u5217\u6c7a\u5b9a\u3092\u7528\u3044\u305f13\u300118\u300121\u3001X\u304a\u3088\u3073Y\u67d3\u8272\u4f53\u306e\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u7570\u6570\u6027\u8a66\u9a13\u3002 \u51fa\u751f\u524d\u3002 Diagn. 2012, 32, 1233-1241. [CrossRef] <\/li>\n\n\n\n<li>Pergament, E.\u3001 Cuckle, H.\u3001 Zimmermann, B.\u3001 Banjevic, M.\u3001 Sigurjonson, S.\u3001 Ryan, A.\u3001 Hall, M.P.\u3001 Dodd, M.\u3001 Lacroute, P.\u3001 Stosic, M.\u3001 \u3089\u3002 \u9ad8\u30ea\u30b9\u30af\u304a\u3088\u3073\u4f4e\u30ea\u30b9\u30af\u30b3\u30db\u30fc\u30c8\u306b\u304a\u3051\u308b\u4e00\u5869\u57fa\u591a\u578b\u306b\u57fa\u3065\u304f\u975e\u6d78\u6f64\u6027\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3002 \u30aa\u30d6\u30b9\u30c6\u30c3\u30c8\u3002 \u5a66\u4eba\u79d1\u3002 2014, 124, 210-218. [CrossRef] <\/li>\n\n\n\n<li>Fan, H.C.; Blumenfeld, Y.J.; Chitkara, U.; Hudgins, L.; Quake, S.R. \u30da\u30a2\u672b\u7aef\u914d\u5217\u6c7a\u5b9a\u306b\u3088\u308b\u80ce\u5150\u304a\u3088\u3073\u6bcd\u4f53\u306e\u7121\u7d30\u80deDNA\u306e\u30b5\u30a4\u30ba\u5206\u5e03\u306e\u5206\u6790\u3002 \u30af\u30ea\u30f3 \u5316\u5b66 2010, 56, 1279-1286. [CrossRef] <\/li>\n\n\n\n<li>Lo, Y.M.;Chan, K.C.;Sun, H.;Chen, E.Z.;Jiang, P.;Lun, F.M.;Zheng, Y.W.;Leung, T.Y.;Lau, T.K.;Cantor, C.R.;\u3089\u3002 \u6bcd\u89aa\u306e\u8840\u6f3fDNA\u914d\u5217\u6c7a\u5b9a\u306f\u3001\u80ce\u5150\u306e\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u306a\u907a\u4f1d\u7684\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u304a\u3088\u3073\u7a81\u7136\u5909\u7570\u30d7\u30ed\u30d5\u30a1\u30a4\u30eb\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u3002 \u79d1\u5b66 \u30c8\u30e9\u30f3\u30b9 Med. 2010, 2, 61ra91. [CrossRef] <\/li>\n\n\n\n<li>Palomaki, G.E.;Kloza, E.M. prenatal cell-free DNA screening test failure: \u5931\u6557\u7387\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/\">\u30c0\u30a6\u30f3\u75c7<\/a>\u5019\u7fa4\u306e\u30ea\u30b9\u30af\u3001\u304a\u3088\u3073\u518d\u691c\u67fb\u306e\u5f71\u97ff\u306b\u95a2\u3059\u308b\u7cfb\u7d71\u7684\u30ec\u30d3\u30e5\u30fc\u3002 Genet. Med. 2018, 20, 1312-1323. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Jiang, F.; Ren, J.; Chen, F.; Zhou, Y.; Xie, J.; Dan, S.; Su, Y.; Xie, J.; Yin, B.; Su, W.; et al. \u975e\u4fb5\u8972\u6027\u80ce\u5150\u30c8\u30ea\u30bd\u30df\u30fc(NIFTY)\u691c\u67fb:\u80ce\u5150\u5e38\u67d3\u8272\u4f53\u304a\u3088\u3073\u6027\u67d3\u8272\u4f53\u7570\u6570\u6027\u306e\u305f\u3081\u306e\u9ad8\u5ea6\u306a\u975e\u4fb5\u8972\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u6cd5\u3002 BMC Med. \u30b2\u30ce\u30e0 2012, 5, 57. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Liao, C.;Yin, A.H.;Yin, Peng, C.F.;Fu, Fu, Yang, J.X.;Li, R.;Chen, Y.Y.;Luo, D.H.;Zhang, Y.L.;Ou, Y.M. \u534a\u5c0e\u4f53\u914d\u5217\u6c7a\u5b9a\u306b\u3088\u308b\u4e00\u822c\u7684\u306a\u7570\u6570\u6027\u306e\u975e\u4fb5\u8972\u7684\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3002 \u624b\u9806 \u30ca\u30b7\u30e7\u30ca\u30eb \u80af\u5b9a\u3059\u308b\u3002 \u79d1\u5b66 \u7c73\u56fd2014\u5e74\u3001111\u30017415-7420\u3002 [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Stumm, M.; Entezami, M.; Haug, K.; Blank, C.; Wustemann, M.; Schulze, B.; Raabe-Meyer, G.; Hempel, M.; Schelling, M.; Ostermayer, E.; et al. \u4e00\u822c\u7684\u306a\u5e38\u67d3\u8272\u4f53\u7570\u6570\u6027\u306e\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u691c\u51fa\u306e\u305f\u3081\u306e\u30e9\u30f3\u30c0\u30e0\u5927\u898f\u6a21\u4e26\u884c\u914d\u5217\u6c7a\u5b9a\u306e\u8a3a\u65ad\u7cbe\u5ea6:\u30e8\u30fc\u30ed\u30c3\u30d1\u306b\u304a\u3051\u308b\u5171\u540c\u7814\u7a76\u3002 \u51fa\u751f\u524d\u3002 Diagn. 2014, 34, 185-191. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Samango-Sprouse, C.; Banjevic, M.; Ryan, A.; Sigurjonsson, S.; Zimmermann, B.; Hill, M.; Hall, M.P.; Westemeyer, M.; Saucier, J.; Demko, Z.; et al. SNP\u30d9\u30fc\u30b9\u306e\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306f\u3001\u9ad8\u7cbe\u5ea6\u3067\u6027\u67d3\u8272\u4f53\u7570\u6570\u6027\u3092\u691c\u51fa\u3059\u308b\u3002 \u51fa\u751f\u524d\u3002Diagn. 2013, 33, 643-649. [CrossRef] <\/li>\n\n\n\n<li>Mazloom, A.R.; Dzakula, Z.; Oeth, P.; Wang, H.; Jensen, T.; Tynan, J.; McCullough, R.; Saldivar, J.S.; Ehrich, M.; van den Boom, D.; et al. \u6bcd\u4f53\u8840\u6f3f\u304b\u3089\u306e\u5faa\u74b0\u7121\u7d30\u80deDNA\u306e\u914d\u5217\u6c7a\u5b9a\u306b\u3088\u308b\u6027\u67d3\u8272\u4f53\u7570\u6570\u6027\u306e\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u691c\u51fa\u3002 \u51fa\u751f\u524d\u3002 Diagn. 2013, 33, 591-597. [CrossRef] <\/li>\n\n\n\n<li>Helgeson, J.; Wardrop, J.; Boomer, T.; Almasri, E.; Paxton, W.B.; Saldivar, J.S.; Dharajiya, N.; Monroe, T.J.; Farkas, D.H.; Grosu, D.S.; et al. \u5168\u30b2\u30ce\u30e0\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306b\u3088\u308a\u691c\u51fa\u3055\u308c\u305f\u4e9c\u6162\u6027\u4e8b\u8c61\u306e\u81e8\u5e8a\u8ee2\u5e30\u3002 \u51fa\u751f\u524d\u3002 Diagn. 2015, 35, 999-1004. [CrossRef] <\/li>\n\n\n\n<li>Martin, K.\u3001Iyengar, S.\u3001Kalyan, A.\u3001Lan, C.\u3001Simon, A.L.\u3001Stosic, M.\u3001Kobara, K.\u3001Ravi, H.\u3001Truong, T.\u3001Ryan, A.\u3089\u3002 \u81e8\u5e8a\u7684\u306b\u91cd\u8981\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306e\u305f\u3081\u306e\u4e00\u5869\u57fa\u591a\u578b\u306b\u57fa\u3065\u304f\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u81e8\u5e8a\u7d4c\u9a13\u3002Clin. Genet. 2018, 93, 293-300. [CrossRef]<\/li>\n\n\n\n<li>van der Meij, K.R.M.; Sistermans, E.A.; Macville, M.V.E.; Stevens, S.J.C.; Bax, C.J.; Bekker, M.N.; Bilardo, C.M.; Boon, E.M.J.; Boter, M.; Diderich, K.E.M.; et al. TRIDENT-2:\u30aa\u30e9\u30f3\u30c0\u306b\u304a\u3051\u308b\u521d\u56de\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3068\u3057\u3066\u306e\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306e\u5168\u56fd\u5b9f\u65bd\u3002 \u7c73\u56fd  J. Hum. Genet. 2019, 105, 1091-1101. [CrossRef] <\/li>\n\n\n\n<li>Pertile, M.D.; Halks-Miller, M.;Flowers, N.; Barbacioru, C.; Kinnings, S.L.; Vavrek, D.; Seltzer, W.K.; Bianchi, D.W. Reare \u5e38\u67d3\u8272\u4f53\u30c8\u30ea\u30bd\u30df\u30fc\u306f\u3001\u6bcd\u4f53\u306e\u8840\u6f3fDNA\u914d\u5217\u6c7a\u5b9a\u306b\u3088\u308a\u660e\u3089\u304b\u306b\u306a\u308a\u3001\u80ce\u5150\u80ce\u76e4\u75be\u60a3\u306e\u30ea\u30b9\u30af\u5897\u52a0\u3092\u793a\u5506\u3059\u308b\u3002Transl. Med. 2017, 9. [CrossRef] <\/li>\n\n\n\n<li>Pescia, G.; Guex, N.; Iseli, C.; Brennan, L.; Osteras, M.; Xenarios, I.; Farinelli, L.; Conrad, B. Cell-free DNA testing of chromosomal anomaly : \u9023\u7d9a6388\u4f8b\u306e\u81e8\u5e8a\u7d4c\u9a13\u3002  Genet. Med. 2017, 19, 169-175. [CrossRef] <\/li>\n\n\n\n<li>Bayindir, B.; Dehaspe, L.; Brison, N.; Brady, P.; Ardui, S.; Kammoun, M.; Van der Veken, L.; Lichtenbelt, K.; Van den Bogaert, K.; Van Houdt, J.; \u5168\u3066\u306e\u5e38\u67d3\u8272\u4f53\u80ce\u5150\u7570\u6570\u6027\u3092\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3059\u308b\u305f\u3081\u306e\u65b0\u898f\u5206\u6790\u30d1\u30a4\u30d7\u30e9\u30a4\u30f3\u3092\u7528\u3044\u305f\u975e\u4fb5\u8972\u7684\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306f\u3001\u598a\u5a20\u7ba1\u7406\u3092\u6539\u5584\u3059\u308b\u3002 Eur. J. Hum. Genet. 2015, 23, 1286-1293. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Van Opstal, D.; van Maarle, M.C.; Lichtenbelt, K.; Weiss, M.M.; Schuring-Blom, H.; Bhola, S.L.; Ho.er, M.J.V.; Huijsdens-van Amsterdam, K.; Macville, M.V.; Kooper, A.J.A.; et al. \u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPS\u306b\u3088\u308a\u691c\u51fa\u3055\u308c\u308b\u4e00\u822c\u7684\u306a\u30c8\u30ea\u30bd\u30df\u30fc\u4ee5\u5916\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u8d77\u6e90\u3068\u81e8\u5e8a\u7684\u610f\u7fa9:TRIDENT\u7814\u7a76\u306e\u7d50\u679c\u3002 Genet. Med. 2018, 20, 480-485. [CrossRef]\n      <\/li>\n\n\n\n<li>Scott, F.;Bonifacio, M.; Sandow, R.; Ellis, K.; Smet, M.E.; McLennan, A. Reare \u5e38\u67d3\u8272\u4f53\u30c8\u30ea\u30bd\u30df\u30fc: \u91cd\u8981\u3067\u3042\u308a\u3001\u305d\u308c\u307b\u3069\u307e\u308c\u3067\u306f\u306a\u3044\u3002 \u51fa\u751f\u524d\u3002 Diagn. 2018, 38, 765-771. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Chatron, N.; Till, M.; Abel, C.; Bardel, C.; Ramond, F.; Sanlaville, D.; Schluth-Bolard, C.         \u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306b\u3088\u308b\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u691c\u51fa: \u598a\u5a20\u7ba1\u7406\u306e\u305f\u3081\u306e\u30d9\u30cd\u30d5\u30a3\u30c3\u30c8 \u8d85\u97f3\u6ce2\u691c\u67fb\u3002 \u5a66\u4eba\u79d1\u3002 2019, 53, 129-130. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>\u30aa\u30e9\u30f3\u30c0\u3001A.J.;\u30af\u30ea\u30fc\u30d6\u30e9\u30f3\u30c9\u3001D.W.\u67d3\u8272\u4f53\u5f62\u6210\u304a\u3088\u3073\u764c:\u5c40\u6240\u7684\u3067\u8907\u96d1\u306a\u67d3\u8272\u4f53\u518d\u7de8\u6210\u306e\u6a5f\u5e8f\u304a\u3088\u3073\u7d50\u679c\u3002 Nat. Med. 2012, 18, 1630-1638. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Grati\u3001F.R.\u30d2\u30c8\u80ce\u5150\u80ce\u76e4\u767a\u9054\u306b\u304a\u3051\u308b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>:<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u306b\u5bfe\u3059\u308b\u610f\u5473\u5408\u3044\u3002 J. Clin. Med. 2014, 3, 809-837. [CrossRef] <\/li>\n\n\n\n<li>Gil, M.M.; Accurti, V.; Santacruz, B.; Plana, M.N.; Nicolaides, K.H. \u7570\u6570\u6027\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u304a\u3051\u308b\u6bcd\u4f53\u8840\u6db2\u4e2d\u306e\u7121\u7d30\u80deDNA\u306e\u5206\u6790: \u6700\u65b0\u306e\u30e1\u30bf\u30a2\u30ca\u30ea\u30b7\u30b9\u3002 \u8d85\u97f3\u6ce2\u691c\u67fb\u3002 \u5a66\u4eba\u79d1\u3002Gynecol. 2017, 50, 302-314. [CrossRef] <\/li>\n\n\n\n<li>de Wergifosse, S.; Bevilacqua, E.; Mezela, I.; El Haddad, S.; Gounongbe, C.; de Marchin, J.; Maggi, V.; Conotte, S.; Badr, D.A.; Fils, J.F.;  \u6bcd\u4f53\u8840\u4e2d\u306e\u7121\u7d30\u80deDNA\u5206\u6790:\u4e00\u6b21\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u3068\u3057\u3066\u306e\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u30a2\u30d7\u30ed\u30fc\u30c1\u3068\u6a19\u7684\u30a2\u30d7\u30ed\u30fc\u30c1\u306e\u6bd4\u8f03\u3002 J. Matern. Fetal Neonatal Med. 2019. [CrossRef] <\/li>\n\n\n\n<li>Grati, F.R.; Ferreira, J.; Benn, P.; Izzi, C.; Verdi, F.; Vercellotti, E.; Dalpiaz, C.; D\u2019Ajello, P.; Filippi, E.; Volpe, N.; et al. \u80ce\u76e4<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u73fe\u8c61\u304c\u6df7\u4e71\u3057\u305f\u598a\u5a20\u306e\u8ee2\u5e30\u304a\u3088\u3073\u7121\u7d30\u80deDNA\u3092\u7528\u3044\u305f\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u610f\u7fa9\u3002Genet. Med. 2020, 22, 309-316. [CrossRef] <\/li>\n\n\n\n<li>Gadsbl, K.; Petersen, O.B.; Gatinois, V.; Strange, H.; Jacobsson, B.; Wapner, R.; Vermeesch, J.R.; Group, T.N.-m.S.; Vogel, I. Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation. Acta Obstet. Gynecol. Scand. 2020, 99, 722-730. [CrossRef] <\/li>\n\n\n\n<li>Benachi, A.;Ca.rey, J.;Carreras, P.; Carreras, E.; Jani, J.C.; Kilby, M.D.; Klein, H.G.; Rizzo, G.; Yaron, Y. \u7121\u7d30\u80deDNA\u30d9\u30fc\u30b9\u306e\u975e\u4fb5\u8972\u6027<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>)\u306b\u5bfe\u3059\u308b\u614b\u5ea6\u3068\u884c\u52d5\u306e\u7406\u89e3: \u30e8\u30fc\u30ed\u30c3\u30d1\u306e\u533b\u7642\u63d0\u4f9b\u8005\u306e\u8abf\u67fb\u3002Eur. J. Med. Genet. 2020, 63, 103616. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Ehrich, M.; Tynan, J.; Mazloom, A.; Almasri, E.; McCullough, R.; Boomer, T.; Grosu, D.; Chibuk, J. Genome-wide cfDNA screening: Clinical laboratory experience with the frst 10,000 cases. Genet. Med. 2017, 19, 1332-1337. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Liang, D.; Cram, D.S.; Tan, H.; Linpeng, S.; Liu, Y.; Sun, H.; Zhang, Y.; Tian, F.; Zhu, H.; Xu, M.; et al. \u62e1\u5927\u3057\u305f\u67d3\u8272\u4f53\u75be\u60a3\u75c7\u5019\u7fa4\u306b\u5bfe\u3059\u308b\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u81e8\u5e8a\u7684\u6709\u7528\u6027\u3002 \u30b8\u30a7\u30cd\u30c3\u30c8 \u4e2d\u592e\u5024 2019. [CrossRef] [PubMed] <\/li>\n\n\n\n<li>Xue, Y.; Zhao, G.; Li, H.; Zhang, Q.; Lu, J.; Yu, B.; Wang, T. \u598a\u5a2057,204\u4f8b\u306b\u304a\u3051\u308b\u67d3\u8272\u4f53\u7570\u6570\u6027\u3092\u691c\u51fa\u3059\u308b\u305f\u3081\u306e\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3002 \u30e2\u30fc\u30eb \u7d30\u80de\u907a\u4f1d\u5b66\u3002 2019, 12, 29. [CrossRef] [PubMed]<\/li>\n<\/ol>\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. 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\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":523,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[71],"tags":[],"class_list":["post-7589","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/7589","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=7589"}],"version-history":[{"count":11,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/7589\/revisions"}],"predecessor-version":[{"id":125073,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/7589\/revisions\/125073"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/523"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=7589"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=7589"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=7589"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}