{"id":7619,"date":"2024-04-30T13:29:49","date_gmt":"2024-04-30T11:29:49","guid":{"rendered":"https:\/\/fhu-premimpact.org\/?post_type=publication&#038;p=7619"},"modified":"2024-08-28T14:06:13","modified_gmt":"2024-08-28T12:06:13","slug":"non-invasive-cell-free-dna-prenatal-screening-for-trisomy-21-as-part-of-primary-screening-strategy-in-twin-pregnancy","status":"publish","type":"publication","link":"https:\/\/fhu-premimpact.org\/en\/publications\/non-invasive-cell-free-dna-prenatal-screening-for-trisomy-21-as-part-of-primary-screening-strategy-in-twin-pregnancy\/","title":{"rendered":"Non-invasive cell-free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancy"},"content":{"rendered":"\n<h4 class=\"wp-block-heading\">Abstract<\/h4>\n\n\n\n<p><strong>Objectives:<\/strong> The performance of non-invasive prenatal screening using cell-free DNA testing of maternal blood in twin pregnancy is underevaluated, while serum marker-based strategies yield poor results. This study aimed to assess the performance of non-invasive prenatal screening for trisomy 21 in twin pregnancy as a first-tier test. Secondary objectives were to assess its failure rate and factors associated with failure.<\/p>\n\n\n\n<p><strong>Methods:<\/strong> This retrospective cohort study included twin pregnancies in which non-invasive prenatal screening using cell-free DNA was performed as the primary screening strategy between May 2017 and October 2019. We used the NIPT VeriSeq\u00ae test for in-vitro diagnosis and set a fetal fraction cut-off of 4% for monochorionic pregnancies and 8% for dichorionic ones. Clinical data and pregnancy outcome were collected from physicians or midwives via a questionnaire or were retrieved directly on-site. We calculated the performance of non-invasive cell-free DNA screening for trisomy 21, analyzed its failure rate and assessed potentially associated factors.<\/p>\n\n\n\n<p><strong>Results:<\/strong> Among 1885 twin pregnancies with follow-up, there were six (0.32%) confirmed cases of trisomy 21. The sensitivity of non-invasive prenatal screening for trisomy 21 was 100% (95% CI, 54.1-100%) and the false-positive rate was 0.23% (95% CI, 0.06-0.59%). The primary failure rate was 4.6%, with 4.0% being due to insufficient fetal fraction. A successful result was obtained for 65.4% of women who underwent a new blood draw, reducing the overall failure rate to 2.8%. Maternal body mass index, gestational age at screening as well as chorionicity were significantly associated with the risk of failure.<\/p>\n\n\n\n<p><strong>Conclusion:<\/strong> This study provides further evidence of the high performance, at an extremely low false-positive rate, of non-invasive prenatal screening in twins as part of a primary screening strategy for trisomy 21. \u00a9 2023 The Authors. Ultrasound in Obstetrics &amp; Gynecology published by John Wiley &amp; Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ultrasound Obstet Gynecol . 2024 Jun;63(6):807-814. Epub 2024 Apr 30<\/p>\n","protected":false},"featured_media":0,"template":"","class_list":["post-7619","publication","type-publication","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Non-invasive cell-free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancy - FHU Prem&#039;IMPACT<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/fhu-premimpact.org\/en\/publications\/non-invasive-cell-free-dna-prenatal-screening-for-trisomy-21-as-part-of-primary-screening-strategy-in-twin-pregnancy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Non-invasive cell-free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancy - FHU Prem&#039;IMPACT\" \/>\n<meta property=\"og:description\" content=\"Ultrasound Obstet Gynecol . 2024 Jun;63(6):807-814. 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