{"id":85838,"date":"2020-12-09T11:05:48","date_gmt":"2020-12-09T02:05:48","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/bhatt-2019-uog-v2-performance\/"},"modified":"2024-12-11T14:47:13","modified_gmt":"2024-12-11T05:47:13","slug":"bhatt-2019-uog-v2-performance","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/bhatt-2019-uog-v2-performance\/?lang=en","title":{"rendered":"VeriSeq\u2122 NIPT Solution v2 delivers genome-wide PCR-free performance and paired-end sequencing-based non-invasive prenatal screening"},"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\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><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\/?lang=en\/#Purpose\" >Purpose<\/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\/?lang=en\/#Method\" >Method<\/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\/?lang=en\/#Result\" >Result<\/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\/?lang=en\/#In_conclusion\" >In conclusion<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Purpose\"><\/span>Purpose<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>To evaluate the performance of a highly automated, PCR-free solution for cell-free DNA-based non-invasive prenatal testing (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>), VeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2, in detecting genome-wide fetal chromosomal abnormalities, including partial deletions and duplications.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Method\"><\/span>Method<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Frozen plasma samples from pregnant women with gestational age \u226510 weeks were tested using the VeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2, which has two reporting options: basic and genome-wide analysis. Here, we describe the genome-wide analysis, which reported on common trisomies, sex chromosome aneuploidies and fetal aneuploidies, rare autosomal aneuploidies, and partial deletions and duplications \u22657 Mb. Clinical outcomes based on cytogenetic results or neonatal physical examination were available for all cases.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Result\"><\/span>Result<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The study cohort included 2335 samples with a mean gestational age of 10.9 weeks and maternal age of 35.1 years.<br>Results were reported for 98.8% (2307\/2335) of cases, including 2300 singleton and 7 twin pregnancies. In singleton non-mosaic pregnancies, the sensitivity was 99.2% (126\/127) for trisomy 21 and 98.3% (291\/296) for abnormalities. When including mosaic samples, the sensitivity was 96.4% (133\/138) for trisomy 21 and 95.5% (318\/333) for abnormalities. Specificity including mosaicism was 99.90% (1987\/1989) for trisomy 21 and 99.31% (1954\/1967) for abnormalities, estimates comparable to those excluding mosaicism. In this cohort, there were seven cases of trisomy 21 affecting twins, and chromosome 21 abnormalities were detected in all cases.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"In_conclusion\"><\/span>In conclusion<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>The paired-end sequencing-based VeriSeq\u2122 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> Solution v2, with basic and genome-wide reporting options, demonstrated high sensitivity and specificity with low failure rates.<br>Importantly, the 98.3% specificity for any abnormality is much higher than the approximately 95% specificity for trisomy 21 by serum screening. Thus, this genome-wide <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a> reporting approach increases the proportion of chromosomes.<\/p>\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\/?lang=en\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":1,"featured_media":24299,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[97],"tags":[],"class_list":["post-85838","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85838","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=85838"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85838\/revisions"}],"predecessor-version":[{"id":85842,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/85838\/revisions\/85842"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media\/24299"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=85838"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=85838"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=85838"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}