{"id":7596,"date":"2020-12-09T11:05:48","date_gmt":"2020-12-09T02:05:48","guid":{"rendered":"https:\/\/www2.hiro-clinic.or.jp\/?p=7596"},"modified":"2025-07-18T17:05:04","modified_gmt":"2025-07-18T08:05:04","slug":"bhatt-2019-uog-v2-performance","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/bhatt-2019-uog-v2-performance\/","title":{"rendered":"VeriSeq\u2122 NIPT Solution v2\u306b\u3088\u308b\u3001\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9PCR\u30d5\u30ea\u30fc\u306e\u6027\u80fd\u3068\u30da\u30a2\u30a8\u30f3\u30c9\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u57fa\u3065\u304f\u975e\u4fb5\u8972\u7684\u51fa\u751f\u524d\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb"},"content":{"rendered":"\n<p>S. Bhatt<sup>1<\/sup>, N. Flowers<sup>2<\/sup>, D. Vavrek<sup>1<\/sup>, K. Meier<sup>1<\/sup>, T. Kalista<sup>1<\/sup>, C. Deciu<sup>1<\/sup>, S. Duenwald<sup>1<\/sup>, M.D. Pertile<sup>3<\/sup><\/p>\n\n\n\n<p><sup>1<\/sup>Illumina, Inc, San Diego, CA, USA; <sup>2<\/sup>Victorian Clinical Genetics Services, Parkville, VIC, Australia; <sup>3<\/sup><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>, Victorian Clinical Genetics Services, Melbourne, VIC, Australia<\/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<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\/bhatt-2019-uog-v2-performance\/#%E7%9B%AE%E7%9A%84\" >\u76ee\u7684<\/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\/bhatt-2019-uog-v2-performance\/#%E6%96%B9%E6%B3%95\" >\u65b9\u6cd5<\/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\/bhatt-2019-uog-v2-performance\/#%E7%B5%90%E6%9E%9C\" >\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\/bhatt-2019-uog-v2-performance\/#%E7%B5%90%E8%AB%96\" >\u7d50\u8ad6<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%AE%E7%9A%84\"><\/span>\u76ee\u7684<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u90e8\u5206\u7684\u6b20\u5931\u304a\u3088\u3073\u91cd\u8907\u3092\u542b\u3080\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u306a\u80ce\u5150<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u306e\u691c\u51fa\u306b\u304a\u3051\u308b\u3001\u7121\u7d30\u80deDNA\u30d9\u30fc\u30b9\u306e\u975e\u4fb5\u8972\u7684<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>)\u3001VeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2\u306e\u305f\u3081\u306e\u9ad8\u5ea6\u306b\u81ea\u52d5\u5316\u3055\u308c\u305fPCR\u30d5\u30ea\u30fc\u6eb6\u6db2\u306e\u6027\u80fd\u3092\u8a55\u4fa1\u3059\u308b\u3053\u3068\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%96%B9%E6%B3%95\"><\/span>\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u598a\u5a20\u671f\u9593\u304c10\u9031\u4ee5\u4e0a\u306e\u598a\u5a66\u304b\u3089\u63a1\u53d6\u3057\u305f\u51cd\u7d50\u8840\u6f3f\u30b5\u30f3\u30d7\u30eb\u3092\u3001VeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2\u3092\u7528\u3044\u3066\u691c\u67fb\u3057\u305f\u3002VeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2\u306b\u306f\u3001\u57fa\u672c\u5206\u6790\u3068\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u5206\u6790\u3068\u3044\u30462\u3064\u306e\u5831\u544a\u30aa\u30d7\u30b7\u30e7\u30f3\u304c\u3042\u308b\u3002 \u672c\u7a3f\u3067\u306f\u3001\u4e00\u822c\u7684\u306a\u30c8\u30ea\u30bd\u30df\u30fc\u3001\u6027\u67d3\u8272\u4f53\u7570\u6570\u6027\u304a\u3088\u3073\u80ce\u5150\u6027\u3001\u307e\u308c\u306a\u5e38\u67d3\u8272\u4f53\u7570\u6570\u6027\u3001\u304a\u3088\u30737 Mb\u4ee5\u4e0a\u306e\u90e8\u5206\u7684\u6b20\u5931\u304a\u3088\u3073\u91cd\u8907\u306b\u3064\u3044\u3066\u5831\u544a\u3057\u305f\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u89e3\u6790\u306b\u3064\u3044\u3066\u8ff0\u3079\u308b\u3002 \u3059\u3079\u3066\u306e\u75c7\u4f8b\u306b\u3064\u3044\u3066\u3001\u7d30\u80de\u907a\u4f1d\u5b66\u7684\u7d50\u679c\u307e\u305f\u306f\u65b0\u751f\u5150\u306e\u8eab\u4f53\u8a3a\u5bdf\u306b\u57fa\u3065\u304f\u81e8\u5e8a\u8ee2\u5e30\u304c\u5229\u7528\u53ef\u80fd\u3067\u3042\u3063\u305f\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E6%9E%9C\"><\/span>\u7d50\u679c<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u7814\u7a76\u30b3\u30db\u30fc\u30c8\u306b\u306f\u3001\u5e73\u5747\u5728\u80ce\u9031\u657010.9\u9031\u3001\u6bcd\u4f53\u5e74\u9f6235.1\u6b73\u306e2335\u30b5\u30f3\u30d7\u30eb\u304c\u542b\u307e\u308c\u305f\u3002<br>2,300\u4f8b\u306e\u5358\u80ce\u598a\u5a20\u304a\u3088\u30737\u4f8b\u306e\u53cc\u80ce\u598a\u5a20\u3092\u542b\u308098.8%(2307\/2335)\u306e\u75c7\u4f8b\u306e\u7d50\u679c\u304c\u5831\u544a\u3055\u308c\u305f\u3002 \u4e00\u91cd\u9805\u975e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u598a\u5a20\u3067\u306f\u3001\u611f\u5ea6\u306f21\u30c8\u30ea\u30bd\u30df\u30fc\u306799.2%(126\/127)\u3001\u7570\u5e38\u306798.3%(291\/296)\u3067\u3042\u3063\u305f\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u30b5\u30f3\u30d7\u30eb\u3092\u542b\u3080\u5834\u5408\u3001\u611f\u5ea6\u306f21\u30c8\u30ea\u30bd\u30df\u30fc\u306796.4%(133\/138)\u3001\u7570\u5e38\u306795.5%(318\/333)\u3067\u3042\u3063\u305f\u3002 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3092\u542b\u3080\u7279\u7570\u5ea6\u306f\u300121\u30c8\u30ea\u30bd\u30df\u30fc\u306799.90%(1987\/1989)\u3001\u7570\u5e38\u306799.31%(1954\/1967)\u3067\u3042\u308a\u3001\u63a8\u5b9a\u5024\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u3092\u9664\u5916\u3057\u305f\u5834\u5408\u3068\u540c\u7b49\u3067\u3042\u3063\u305f\u3002 \u3053\u306e\u30b3\u30db\u30fc\u30c8\u3067\u306f\u300121\u30c8\u30ea\u30bd\u30df\u30fc\u304c\u53cc\u751f\u5150\u306b\u7f79\u60a3\u3057\u305f\u75c7\u4f8b\u304c7\u4f8b\u3042\u308a\u3001\u5168\u4f8b\u306721\u756a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u304c\u691c\u51fa\u3055\u308c\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<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%B5%90%E8%AB%96\"><\/span>\u7d50\u8ad6<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30da\u30a2\u30a8\u30f3\u30c9\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u30d9\u30fc\u30b9\u306eVeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2\u306f\u3001\u57fa\u672c\u304a\u3088\u3073\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u5831\u544a\u306e\u9078\u629e\u80a2\u3092\u6709\u3057\u3001\u9ad8\u3044\u611f\u5ea6\u3068\u9ad8\u3044\u7279\u7570\u5ea6\u3092\u793a\u3057\u3001\u4f4e\u3044\u5931\u6557\u7387\u3092\u793a\u3057\u305f\u3002<br>\u91cd\u8981\u306a\u3053\u3068\u306f\u3001\u3042\u3089\u3086\u308b\u7570\u5e38\u306b\u5bfe\u3059\u308b98.3%\u306e\u7279\u7570\u5ea6\u306f\u3001\u8840\u6e05\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306b\u3088\u308b21\u30c8\u30ea\u30bd\u30df\u30fc\u306e\u7279\u7570\u5ea6\u306f\u7d0495%\u3088\u308a\u3082\u306f\u308b\u304b\u306b\u9ad8\u3044\u3068\u3044\u3046\u3053\u3068\u3060\u3002 \u3053\u306e\u3088\u3046\u306b\u3001\u3053\u306e\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9NIPT\u306e\u5831\u544a\u30a2\u30d7\u30ed\u30fc\u30c1\u306f\u67d3\u8272\u4f53\u306e\u5272\u5408\u3092\u5897\u52a0\u3055\u305b\u308b\u3053\u3068\u3068\u306a\u308b\u3002<\/p>\n\n\n    <a href=\"\/nipt\/10q22-3q23-2\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">10q22.3-q23.2\u5fae\u5c0f\u6b20\u5931\u306e\u65b0\u898f\u75c7\u4f8b <\/div>\n          <div class=\"blog-card-excerpt\">...<\/div>\n      <\/div>\n    <\/a>\n\n","protected":false},"excerpt":{"rendered":"S. Bhatt1, N. Flower&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/bhatt-2019-uog-v2-performance\/\">\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":[489,57,84,43],"class_list":["post-7596","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-treatise","tag-nipt-3","tag-down-syndrome","tag-veriseq","tag-gene"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/7596","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=7596"}],"version-history":[{"count":5,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/7596\/revisions"}],"predecessor-version":[{"id":106240,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/7596\/revisions\/106240"}],"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=7596"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=7596"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=7596"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}