{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T13:56:19Z","timestamp":1780667779436,"version":"3.54.1"},"reference-count":29,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,1,5]],"date-time":"2016-01-05T00:00:00Z","timestamp":1451952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp; Gyne"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To evaluate the performance of a single\u2010nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>)\u2010based non\u2010invasive prenatal test (<jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>) for the detection of fetal 22q11.2  deletion syndrome in clinical practice, assess clinical follow\u2010up and review patient choices for women with high\u2010risk results.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, 21 948 samples were submitted for screening for 22q11.2 deletion syndrome using a <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010based <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content> and subsequently evaluated. Follow\u2010up was conducted for all cases with a high\u2010risk result.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Ninety\u2010five cases were reported as high risk for fetal 22q11.2 deletion. Diagnostic testing results were available for 61 (64.2%) cases, which confirmed 11 (18.0%) true positives and identified 50 (82.0%) false positives, resulting in a positive predictive value (<jats:styled-content style=\"fixed-case\">PPV<\/jats:styled-content>) of 18.0%. Information regarding invasive testing was available for 84 (88.4%) high\u2010risk cases: 57.1% (48\/84) had invasive testing and 42.9% (36\/84) did not. Ultrasound anomalies were present in 81.8% of true\u2010positive and 18.0% of false\u2010positive cases. Two additional cases were high risk for a maternal 22q11.2 deletion; one was confirmed by diagnostic testing and one had a positive family history. There were three pregnancy terminations related to screening results of 22q11.2 deletion, two of which were confirmed as true positive by invasive testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Clinical experience with this <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010based non\u2010invasive screening test for 22q11.2 deletion syndrome indicates that these deletions have a frequency of approximately 1 in 1000 in the referral population with most identifiable through this test. Use of this screening method requires the availability of counseling and other management resources for high\u2010risk pregnancies. \u00a9 2015 The Authors. <jats:italic>Ultrasound in Obstetrics &amp; Gynecology<\/jats:italic> published by John Wiley &amp; Sons Ltd. on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.15754","type":"journal-article","created":{"date-parts":[[2015,9,23]],"date-time":"2015-09-23T10:23:43Z","timestamp":1443003823000},"page":"177-183","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":109,"title":["Clinical experience with single\u2010nucleotide polymorphism\u2010based non\u2010invasive prenatal screening for 22q11.2 deletion syndrome"],"prefix":"10.1002","volume":"47","author":[{"given":"S. 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