{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T14:54:46Z","timestamp":1792421686455,"version":"4.5.0"},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T00:00:00Z","timestamp":1735862400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,1,3]],"date-time":"2025-01-03T00:00:00Z","timestamp":1735862400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Genome\u2010wide non\u2010invasive prenatal testing (gwNIPT) has screening limitations for detectable genetic conditions and cannot detect microdeletions\/microduplications (MD) or triploidy. Nuchal translucency (NT) increases with gestation and with genetic or structural abnormalities. This study aims to determine the utility of NT measurement in detecting genetic abnormalities not identified by gwNIPT and the optimal NT threshold value.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A 4\u2010year retrospective study of singleton pregnancies undergoing first\u2010line gwNIPT aneuploidy screening where invasive prenatal testing by CVS\/or amniocentesis was subsequently undertaken. Population proportions for static and multiple of the median (MoM) NT cut\u2010offs were derived from all 11\u201314\u00a0weeks ultrasound examinations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Among 919 pregnancies with gwNIPT and invasive testing, 338 had a single genetic abnormality. There were 9 false negative GwNIPT results and a further 26 undetectable abnormalities (18 MD, 8 triploidy) in this cohort. Twelve had a dual chromosomal abnormality, four of which returned a low\u2010risk gwNIPT. Thirty\u2010three \u201cmissed cases\u201d also had a 13\u2010week scan, to which the various NT threshold values (3.0\u00a0mm, 1.6 MoM, 3.5\u00a0mm, and 1.9 MoM) were applied. In only 3 (9%) cases did the NT exceed 3.0\u00a0mm with similar detection rates (DR) for all higher cut\u2010offs. Static and MoM\u2010based NT cut\u2010offs had similar positive predictive values (PPV).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Enlarged NT measurement is a poor predictor of genetic abnormalities not identified by gwNIPT. When applied, the fixed NT cut\u2010off of 3.5\u00a0mm provides a low FPR with a similar DR to lower cut\u2010off thresholds, resulting in a higher PPV.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pd.6742","type":"journal-article","created":{"date-parts":[[2025,1,4]],"date-time":"2025-01-04T00:28:28Z","timestamp":1735950508000},"page":"147-154","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["How Useful is Nuchal Translucency in Detecting Chromosomal Abnormalities Missed by Genome\u2010Wide NIPT and What Measurement Threshold Should Be Used?"],"prefix":"10.1002","volume":"45","author":[{"given":"May Phoo","family":"Han","sequence":"first","affiliation":[{"name":"Discipline of Women's Health University of New South Wales  Randwick Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Elizabeth Gomes de Melo Tavares","family":"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":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Elhindi","sequence":"additional","affiliation":[{"name":"Women's &amp; Newborn Health Department Westmead Hospital  Westmead Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"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 University of Sydney  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7705-9559","authenticated-orcid":false,"given":"Fergus","family":"Scott","sequence":"additional","affiliation":[{"name":"Discipline of Women's Health University of New South Wales  Randwick Australia"},{"name":"Sydney Ultrasound for Women  Sydney Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,3]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6357"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17484"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5590"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.5734\/jgm.2015.12.2.66"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.14880"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.12429"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.13384"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/aogs.13877"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010016\u20100279\u2010z"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2004.12.093"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1080\/14767058.2019.1568405"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.17421"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2021.03.050"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6055"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5847"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.13203"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5583"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.5299"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2022.08.034"},{"key":"e_1_2_11_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/1471\u20100528.17386"},{"key":"e_1_2_11_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000479506"},{"key":"e_1_2_11_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bpobgyn.2017.02.004"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5584"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6024"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.23746"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6742","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pd.6742","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.6742","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T09:06:22Z","timestamp":1772960782000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.6742"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,3]]},"references-count":25,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1002\/pd.6742"],"URL":"https:\/\/doi.org\/10.1002\/pd.6742","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,3]]},"assertion":[{"value":"2024-05-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}