{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T05:12:20Z","timestamp":1787461940616,"version":"build-2736575974"},"reference-count":34,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:00:00Z","timestamp":1747180800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012165","name":"Key Technologies Research and Development Program","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012165","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703300"],"award-info":[{"award-number":["2022YFC2703300"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703302"],"award-info":[{"award-number":["2022YFC2703302"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004912","name":"Sichuan University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004912","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["ajog.org","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Obstetrics and Gynecology"],"published-print":{"date-parts":[[2025,11]]},"DOI":"10.1016\/j.ajog.2025.05.003","type":"journal-article","created":{"date-parts":[[2025,5,15]],"date-time":"2025-05-15T10:58:38Z","timestamp":1747306718000},"page":"483.e1-483.e10","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"title":["Evaluating the clinical utility and strategy of whole-exome sequencing testing for fetuses with increased nuchal translucency"],"prefix":"10.1016","volume":"233","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8627-6048","authenticated-orcid":false,"given":"Fan","family":"Zhou","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhu","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongmei","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiamin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lingping","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bocheng","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qinqin","family":"Xiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shanling","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajog.2025.05.003_bib1","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/S0140-6736(97)11280-6","article-title":"UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal-translucency thickness at 10\u201314 weeks of gestation. Fetal Medicine Foundation First Trimester Screening Group","volume":"352","author":"Snijders","year":"1998","journal-title":"Lancet"},{"key":"10.1016\/j.ajog.2025.05.003_bib3","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1136\/bmj.304.6831.867","article-title":"Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy","volume":"304","author":"Nicolaides","year":"1992","journal-title":"BMJ"},{"key":"10.1016\/j.ajog.2025.05.003_bib4","doi-asserted-by":"crossref","first-page":"e48","DOI":"10.1097\/AOG.0000000000004084","article-title":"Screening for fetal chromosomal abnormalities: ACOG Practice Bulletin, Number 226","volume":"136","year":"2020","journal-title":"Obstet Gynecol"},{"key":"10.1016\/j.ajog.2025.05.003_bib5","doi-asserted-by":"crossref","first-page":"1040","DOI":"10.1097\/01.AOG.0000259311.87056.5e","article-title":"First-trimester ultrasonographic screening for trisomy 21 using fetal nuchal translucency and nasal bone","volume":"109","author":"Sepulveda","year":"2007","journal-title":"Obstet Gynecol"},{"key":"10.1016\/j.ajog.2025.05.003_bib6","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1002\/pd.5590","article-title":"Is there still a role for nuchal translucency measurement in the changing paradigm of first trimester screening?","volume":"40","author":"Bardi","year":"2020","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2025.05.003_bib7","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1097\/01.AOG.0000191301.63871.c6","article-title":"Relation between increased fetal nuchal translucency thickness and chromosomal defects","volume":"107","author":"Kagan","year":"2006","journal-title":"Obstet Gynecol"},{"key":"10.1016\/j.ajog.2025.05.003_bib8","doi-asserted-by":"crossref","first-page":"1426","DOI":"10.1002\/pd.5789","article-title":"Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency","volume":"40","author":"Yang","year":"2020","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2025.05.003_bib9","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1002\/uog.14880","article-title":"Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis","volume":"46","author":"Grande","year":"2015","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.ajog.2025.05.003_bib10","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1002\/pd.4756","article-title":"The performance of an intermediate 16th-week ultrasound scan for the follow-up of euploid fetuses with increased nuchal translucency","volume":"36","author":"Le Lous","year":"2016","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2025.05.003_bib11","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1002\/uog.12488","article-title":"Nuchal translucency and major congenital heart defects in fetuses with normal karyotype: a meta-analysis","volume":"42","author":"Sotiriadis","year":"2013","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.ajog.2025.05.003_bib12","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1016\/j.ajog.2014.10.1102","article-title":"Risk of critical congenital heart defects by nuchal translucency norms","volume":"212","author":"Jelliffe-Pawlowski","year":"2015","journal-title":"Am J Obstet Gynecol"},{"key":"10.1016\/j.ajog.2025.05.003_bib13","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1111\/1471-0528.16869","article-title":"Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?","volume":"129","author":"Mellis","year":"2022","journal-title":"BJOG"},{"key":"10.1016\/j.ajog.2025.05.003_bib14","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1002\/pd.6390","article-title":"The clinical impact of the first-trimester nuchal translucency between the 95th-99th percentiles","volume":"43","author":"Fantasia","year":"2023","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajog.2025.05.003_bib15","doi-asserted-by":"crossref","first-page":"6358","DOI":"10.3390\/jcm12196358","article-title":"Perinatal outcomes in foetuses with increased nuchal translucency and normal karyotype: a retrospective cohort study from the United Arab Emirates","volume":"12","author":"Khair","year":"2023","journal-title":"J Clin Med"},{"issue":"Suppl 3","key":"10.1016\/j.ajog.2025.05.003_bib16","first-page":"S188","article-title":"Parent's Evaluation of Developmental Status (PEDS) detects developmental problems compared to Denver II","volume":"88","author":"Theeranate","year":"2005","journal-title":"J Med Assoc Thai"},{"key":"10.1016\/j.ajog.2025.05.003_bib17","doi-asserted-by":"crossref","first-page":"B2","DOI":"10.1016\/j.ajog.2021.06.079","article-title":"Society for Maternal-Fetal Medicine Consult Series #57: evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester","volume":"225","author":"Society for Maternal-Fetal Medicine (SMFM)","year":"2021","journal-title":"Am J Obstet Gynecol"},{"key":"10.1016\/j.ajog.2025.05.003_bib18","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","article-title":"Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"22","author":"Riggs","year":"2020","journal-title":"Genet Med"},{"key":"10.1016\/j.ajog.2025.05.003_bib19","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.ajog.2025.05.003_bib20","first-page":"340","article-title":"Universal prenatal chromosomal microarray analysis: additive value and clinical dilemmas in fetuses with a normal karyotype","volume":"34","author":"Bornstein","year":"2017","journal-title":"Am J Perinatol"},{"key":"10.1016\/j.ajog.2025.05.003_bib21","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1002\/uog.17421","article-title":"Cut-off value of nuchal translucency as indication for chromosomal microarray analysis","volume":"50","author":"Maya","year":"2017","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.ajog.2025.05.003_bib22","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2023.1227724","article-title":"When NIPT meets WES, prenatal diagnosticians face the dilemma: genetic etiological analysis of 2,328 cases of NT thickening and follow-up of pregnancy outcomes","volume":"14","author":"Ji","year":"2023","journal-title":"Front Genet"},{"key":"10.1016\/j.ajog.2025.05.003_bib23","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1159\/000506095","article-title":"Genetic examination for fetuses with increased fetal nuchal translucency by genomic technology","volume":"160","author":"Xue","year":"2020","journal-title":"Cytogenet Genome Res"},{"key":"10.1016\/j.ajog.2025.05.003_bib24","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/S0140-6736(18)32042-7","article-title":"Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study","volume":"393","author":"Petrovski","year":"2019","journal-title":"Lancet"},{"key":"10.1016\/j.ajog.2025.05.003_bib25","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1111\/jog.15482","article-title":"Genetic examination for fetuses with increased nuchal translucency by exome sequencing","volume":"49","author":"Sun","year":"2023","journal-title":"J Obstet Gynaecol Res"},{"key":"10.1016\/j.ajog.2025.05.003_bib26","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1186\/s13073-022-01130-x","article-title":"Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses","volume":"14","author":"Fu","year":"2022","journal-title":"Genome Med"},{"key":"10.1016\/j.ajog.2025.05.003_bib27","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S0140-6736(18)31940-8","article-title":"Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study","volume":"393","author":"Lord","year":"2019","journal-title":"Lancet"},{"key":"10.1016\/j.ajog.2025.05.003_bib28","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1002\/uog.23746","article-title":"Diagnostic yield of next-generation sequencing in fetuses with isolated increased nuchal translucency: systematic review and meta-analysis","volume":"59","author":"Pauta","year":"2022","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.ajog.2025.05.003_bib29","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1038\/s41436-020-01093-7","article-title":"When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort","volume":"23","author":"Scott","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.ajog.2025.05.003_bib30","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1002\/uog.20352","article-title":"Microarray and RASopathy-disorder testing in fetuses with increased nuchal translucency","volume":"55","author":"Sinajon","year":"2020","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.ajog.2025.05.003_bib31","doi-asserted-by":"crossref","first-page":"445","DOI":"10.1136\/jmedgenet-2020-107369","article-title":"High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics","volume":"59","author":"Thomas","year":"2022","journal-title":"J Med Genet"},{"key":"10.1016\/j.ajog.2025.05.003_bib32","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1002\/uog.18915","article-title":"Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities","volume":"51","author":"Fu","year":"2018","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.ajog.2025.05.003_bib33","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1016\/j.jns.2014.03.046","article-title":"Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience","volume":"341","author":"Luigetti","year":"2014","journal-title":"J Neurol Sci"},{"key":"10.1016\/j.ajog.2025.05.003_bib34","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/s13039-020-00527-w","article-title":"Prenatal detection and molecular cytogenetic characterization of 19q13.42 microduplication: three reported cases and literature review","volume":"14","author":"Zhang","year":"2021","journal-title":"Mol Cytogenet"},{"key":"10.1016\/j.ajog.2025.05.003_bib35","doi-asserted-by":"crossref","first-page":"e1","DOI":"10.1111\/1471-0528.16821","article-title":"Amniocentesis and chorionic villus sampling: green-top guideline no. 8","volume":"129","author":"Navaratnam","year":"2022","journal-title":"BJOG"}],"container-title":["American Journal of Obstetrics and Gynecology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002937825003072?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002937825003072?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,16]],"date-time":"2026-05-16T15:27:15Z","timestamp":1778945235000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002937825003072"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11]]},"references-count":34,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025,11]]}},"alternative-id":["S0002937825003072"],"URL":"https:\/\/doi.org\/10.1016\/j.ajog.2025.05.003","relation":{},"ISSN":["0002-9378"],"issn-type":[{"value":"0002-9378","type":"print"}],"subject":[],"published":{"date-parts":[[2025,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Evaluating the clinical utility and strategy of whole-exome sequencing testing for fetuses with increased nuchal translucency","name":"articletitle","label":"Article Title"},{"value":"American Journal of Obstetrics and Gynecology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajog.2025.05.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Author(s). Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}