{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T04:54:38Z","timestamp":1791176078756,"version":"4.1.0"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,11,17]],"date-time":"2017-11-17T00:00:00Z","timestamp":1510876800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Natera, Inc"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>Single\u2010nucleotide polymorphism (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>)\u2010based non\u2010invasive prenatal testing (<jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content>) can currently predict a subset of submicroscopic abnormalities associated with severe clinical manifestations. We retrospectively analyzed the performance of <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010based <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content> in 80\u2009449 referrals for 22q11.2 deletion syndrome and 42\u2009326 referrals for 1p36, cri\u2010du\u2010chat, Prader\u2010Willi, and Angelman microdeletion syndromes over a 1\u2010year period, and compared the original screening protocol with a revision that reflexively sequenced high\u2010risk calls at a higher depth of read. The prevalence of these microdeletion syndromes was also estimated in the referral population. The positive predictive value of the original test was 15.7% for 22q11.2 deletion syndrome, and 5.2% for the other 4 disorders combined. With the revised protocol, these values increased to 44.2% for 22q11.2 and 31.7% for the others. The 0.33% false\u2010positive rate (<jats:styled-content style=\"fixed-case\">FPR<\/jats:styled-content>) for 22q11.2 deletion syndrome decreased to 0.07% with the revised protocol. Similarly, the <jats:styled-content style=\"fixed-case\">FPR<\/jats:styled-content> for the other 4 disorders combined decreased from 0.56% to 0.07%. Minimal prevalences were estimated to be 1 in 1255 for 22q11.2 deletion syndrome and 1 in 1464 for 1p36, cri\u2010du\u2010chat, and Angelman syndromes combined. Our results show that these microdeletions are relatively common in the referral population, and that the performance of <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>\u2010based <jats:styled-content style=\"fixed-case\">NIPT<\/jats:styled-content> is improved with high\u2010depth resequencing.<\/jats:p>","DOI":"10.1111\/cge.13098","type":"journal-article","created":{"date-parts":[[2017,7,11]],"date-time":"2017-07-11T14:47:08Z","timestamp":1499784428000},"page":"293-300","source":"Crossref","is-referenced-by-count":102,"title":["Clinical experience with a single\u2010nucleotide polymorphism\u2010based non\u2010invasive prenatal test for five clinically significant microdeletions"],"prefix":"10.1111","volume":"93","author":[{"given":"K.","family":"Martin","sequence":"first","affiliation":[{"name":"Natera, Inc.  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