{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T12:15:38Z","timestamp":1778328938865,"version":"3.51.4"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T00:00:00Z","timestamp":1740096000000},"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":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Genome\u2010wide non\u2010invasive prenatal testing (gwNIPT) has screening limitations for detectable chromosomal conditions and cannot detect microdeletions\/microduplications (MD) or triploidy. Thickened nuchal translucency (NT) only detects around 10% of these cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A 4\u2010year retrospective study of singleton pregnancies undergoing first\u2010line gwNIPT screening with subsequent CVS or amniocentesis. All MD cases, with or without gwNIPT screening, were also analyzed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 919 pregnancies with gwNIPT and invasive testing, 338 had a single chromosomal abnormality, with 9 false negative gwNIPT results (2.9%) and 26 undetectable abnormalities (18 MD, 8 triploidy) (7.7%). Twelve cases had a dual chromosomal abnormality and 4 returned a low\u2010risk gwNIPT result. Only three (9%) of the \u201cmissed cases\u201d had a large NT and two of these also had a structural abnormality. Approximately 90% of chromosomal anomalies missed by gwNIPT were detected by invasive prenatal testing indicated by one or more of the following: failed NIPT (9%), low PAPP\u2010A (12%), early growth restriction (37%) and structural anomalies at pre\u2010NIPT, 13\u2010 or 20\u2010week ultrasounds (51%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Most chromosomal abnormalities missed or unable to be found by gwNIPT are detected due to growth restriction or structural anomalies, not an enlarged NT. Failed NIPT and low PAPP\u2010A concentrations contributed to detection.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6755","type":"journal-article","created":{"date-parts":[[2025,2,22]],"date-time":"2025-02-22T02:29:31Z","timestamp":1740191371000},"page":"464-472","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Strategies to Detect Chromosomal Anomalies Not Identified by NIPT"],"prefix":"10.1002","volume":"45","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7705-9559","authenticated-orcid":false,"given":"Fergus","family":"Scott","sequence":"first","affiliation":[{"name":"Discipline of Women's Health University of New South Wales  Randwick Australia"},{"name":"Sydney Ultrasound for Women  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"May Phoo","family":"Han","sequence":"additional","affiliation":[{"name":"Discipline of Women's Health University of New South Wales  Randwick Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Elizabeth","family":"Gomes de Melo Tavares Ferreira","sequence":"additional","affiliation":[{"name":"Discipline of Women's Health University of New South Wales  Randwick Australia"},{"name":"Sydney Ultrasound for Women  Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Elhindi","sequence":"additional","affiliation":[{"name":"Women's and Newborn Health Department  Westmead Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8979-4534","authenticated-orcid":false,"given":"Andrew C.","family":"McLennan","sequence":"additional","affiliation":[{"name":"Sydney Ultrasound for Women  Sydney Australia"},{"name":"Discipline of Obstetrics, Gynaecology and Neonatology The University of Sydney  Camperdown Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,2,21]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.13877"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17484"},{"key":"e_1_2_11_4_1","first-page":"305e6","article-title":"The Predictive Value of Prenatal Cell\u2010Free DNA Testing for Rare Autosomal Trisomies: A Systematic Review and Meta\u2010Analysis","author":"Acreman M. 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