{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T13:12:08Z","timestamp":1780060328131,"version":"3.54.0"},"reference-count":50,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,4,24]],"date-time":"2020-04-24T00:00:00Z","timestamp":1587686400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Routine to Research Unit, Faculty of Medicine Siriraj Hospital","award":["R016135052"],"award-info":[{"award-number":["R016135052"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>To review the performance of noninvasive prenatal screening (NIPS) using targeted single\u2010nucleotide polymorphisms (SNPs) approach in mixed\u2010risk Thai women.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Retrospective analysis of data for detection of trisomy 21 (T21), 18 (T18), 13 (T13), monosomy X (XO), other sex chromosome aneuploidies (SCA), and triploidy\/vanishing twins (VT) from a single commercial laboratory.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Mean (\u00b1<jats:italic>SD<\/jats:italic>) gestational age and maternal weight were 13.2 (\u00b12.1) weeks and 125.7 (\u00b122.4) pounds, respectively (<jats:italic>n<\/jats:italic>\u00a0=\u00a08,572). From 462\/8,572 (5.4%) no\u2010calls; 1\/462 (0.2%) was uninformative SNPs, and 1\/462 chose amniocentesis. Redraw settled 323\/460 (70%) samples with low fetal fraction (FF); and 8,434\/8,572 (98.4%) were finally reportable, with 131 high risks (1.6%). The median (min\u2010max) FF of reportable (<jats:italic>n<\/jats:italic>\u00a0=\u00a08,434) and unreportable samples (<jats:italic>n<\/jats:italic>\u00a0=\u00a0137) samples were 10.5% (2.6\u201337.9) and 3.8% (1\u201314.1), respectively (<jats:italic>p<\/jats:italic>\u00a0&lt;\u00a0.05). Fetal karyotypes were available in 106\/131 (80.9%) and 52\/138 (37.7%) high risk and repeated no\u2010calls, respectively. The positive predictive values (PPVs) for T21 (<jats:italic>n<\/jats:italic>\u00a0=\u00a047), T18 (<jats:italic>n<\/jats:italic>\u00a0=\u00a015), T13 (<jats:italic>n<\/jats:italic>\u00a0=\u00a07), XO (<jats:italic>n<\/jats:italic>\u00a0=\u00a08), other SCA (<jats:italic>n<\/jats:italic>\u00a0=\u00a07), and triploidy\/VT were 94%, 100%, 58.3%, 66.7%, 70%, and 57.1%, respectively. None of repeated no\u2010calls had aneuploidies.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>SNP\u2010based NIPS has high PPVs for T21 and T18. Although the proprietary SNPs library is not population\u2010specific, uninformative SNPs are uncommon.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1256","type":"journal-article","created":{"date-parts":[[2020,4,24]],"date-time":"2020-04-24T07:15:05Z","timestamp":1587712505000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Clinical performance of DNA\u2010based prenatal screening using single\u2010nucleotide polymorphisms approach in Thai women with singleton pregnancy"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3966-1944","authenticated-orcid":false,"given":"Tachjaree","family":"Panchalee","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naravat","family":"Poungvarin","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Warisa","family":"Amornrit","sequence":"additional","affiliation":[{"name":"Research Department Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julaporn","family":"Pooliam","sequence":"additional","affiliation":[{"name":"Division of Clinical Epidemiology Faculty of Medicine Siriraj Hospital Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pattarawalai","family":"Taluengjit","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7172-053X","authenticated-orcid":false,"given":"Tuangsit","family":"Wataganara","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Mahidol University Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,24]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12331"},{"key":"e_1_2_8_3_1","first-page":"CD011767","article-title":"Genomics\u2010based non\u2010invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women","volume":"11","author":"Badeau M.","year":"2017","journal-title":"Cochrane Database Systematic Review"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0186771"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1311037"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/AOG.0b013e31824fb482"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4126"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17492"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clinbiochem.2015.02.011"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.10.012"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2014.08.006"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm8091311"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1555765"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4123"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2016.1253062"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.15754"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0096677"},{"key":"e_1_2_8_18_1","first-page":"CD011202","article-title":"Use of biochemical tests of placental function for improving pregnancy outcome","author":"Heazell A. 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