{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T00:16:56Z","timestamp":1793319416517,"version":"4.5.0"},"reference-count":40,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["ajogmfm.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["American Journal of Obstetrics & Gynecology MFM"],"published-print":{"date-parts":[[2023,9]]},"DOI":"10.1016\/j.ajogmf.2023.101048","type":"journal-article","created":{"date-parts":[[2023,6,11]],"date-time":"2023-06-11T17:59:18Z","timestamp":1686506358000},"page":"101048","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis"],"prefix":"10.1016","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5611-1231","authenticated-orcid":false,"given":"Hiba J.","family":"Mustafa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enaja V.","family":"Sambatur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie P.","family":"Barbera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgio","family":"Pagani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuval","family":"Yaron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlin D.","family":"Baptiste","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald J.","family":"Wapner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asma","family":"Khalil","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajogmf.2023.101048_bib0001","doi-asserted-by":"crossref","first-page":"B30","DOI":"10.1016\/j.ajog.2020.08.182","article-title":"Fetal ventriculomegaly","volume":"223","author":"Norton","year":"2020","journal-title":"Am J Obstet Gynecol"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0002","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1097\/AOG.0b013e3182732b53","article-title":"Epidemiology, natural history, progression, and postnatal outcome of severe fetal ventriculomegaly","volume":"120","author":"Hannon","year":"2012","journal-title":"Obstet Gynecol"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0003","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1002\/uog.19038","article-title":"Outcome of fetuses with prenatal diagnosis of isolated severe bilateral ventriculomegaly: systematic review and meta-analysis","volume":"52","author":"Carta","year":"2018","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0004","doi-asserted-by":"crossref","first-page":"20765","DOI":"10.1038\/s41598-020-77400-8","article-title":"Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly","volume":"10","author":"Wang","year":"2020","journal-title":"Sci Rep"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0005","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1097\/CM9.0000000000001683","article-title":"Chromosomal microarray analysis vs. karyotyping for fetal ventriculomegaly: a meta-analysis","volume":"135","author":"Sun","year":"2021","journal-title":"Chin Med J (Engl)"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0006","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of Mendelian disorders","volume":"369","author":"Yang","year":"2013","journal-title":"N Engl J Med"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0007","doi-asserted-by":"crossref","first-page":"n71","DOI":"10.1136\/bmj.n71","article-title":"The PRISMA 2020 statement: an updated guideline for reporting systematic reviews","volume":"372","author":"Page","year":"2021","journal-title":"BMJ"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0008","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.ajogmf.2023.101048_bib0009","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1186\/s13073-018-0582-x","article-title":"Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder","volume":"10","author":"Normand","year":"2018","journal-title":"Genome Med"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0010","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1002\/uog.24885","article-title":"Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies","volume":"60","author":"Yaron","year":"2022","journal-title":"Ultrasound Obstet Gynecol"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0011","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.ajogmf.2023.101048_bib0012","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.ajogmf.2023.101048_bib0013","doi-asserted-by":"crossref","first-page":"W1","DOI":"10.7326\/0003-4819-138-1-200301070-00012-w1","article-title":"The STARD statement for reporting studies of diagnostic accuracy: explanation and elaboration","volume":"138","author":"Bossuyt","year":"2003","journal-title":"Ann Intern Med"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0014","doi-asserted-by":"crossref","first-page":"3269","DOI":"10.1093\/hmg\/ddu038","article-title":"Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound","volume":"23","author":"Carss","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0015","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/gim.2017.173","article-title":"Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis","volume":"20","author":"Boissel","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0016","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.ajogmf.2023.101048_bib0017","doi-asserted-by":"crossref","first-page":"1171","DOI":"10.1038\/gim.2017.31","article-title":"Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development","volume":"19","author":"Yates","year":"2017","journal-title":"Genet Med"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0018","doi-asserted-by":"crossref","first-page":"425","DOI":"10.3389\/fgene.2019.00425","article-title":"Evaluation of diagnostic yield in fetal whole-exome sequencing: a report on 45 consecutive families","volume":"10","author":"Greenbaum","year":"2019","journal-title":"Front Genet"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0019","doi-asserted-by":"crossref","first-page":"e3180","DOI":"10.1002\/jgm.3180","article-title":"A novel nonsense mutation in the L1CAM gene responsible for X-linked congenital hydrocephalus","volume":"22","author":"Guo","year":"2020","journal-title":"J Gene Med"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0020","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1136\/jmedgenet-2020-106867","article-title":"Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations","volume":"58","author":"Lefebvre","year":"2021","journal-title":"J Med Genet"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0021","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1016\/j.cca.2020.08.018","article-title":"Novel and recurrent variants identified in fetuses with central nervous system abnormalities by trios-medical exome sequencing","volume":"510","author":"Tan","year":"2020","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0022","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1038\/s41436-020-01067-9","article-title":"Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes","volume":"23","author":"Tolusso","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0023","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1136\/jmedgenet-2012-101190","article-title":"Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus","volume":"49","author":"Drielsma","year":"2012","journal-title":"J Med Genet"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0024","doi-asserted-by":"crossref","first-page":"e1955","DOI":"10.7717\/peerj.1955","article-title":"First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects","volume":"4","author":"Pangalos","year":"2016","journal-title":"PeerJ"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0025","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1038\/gim.2017.111","article-title":"Molecular autopsy in maternal-fetal medicine","volume":"20","author":"Shamseldin","year":"2018","journal-title":"Genet Med"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0026","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1007\/s00439-017-1860-1","article-title":"Importance of complete phenotyping in prenatal whole exome sequencing","volume":"137","author":"Aarabi","year":"2018","journal-title":"Hum Genet"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0027","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1002\/pd.5361","article-title":"Prenatal aqueduct stenosis: association with rhombencephalosynapsis and neonatal outcome","volume":"38","author":"Kline-Fath","year":"2018","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0028","doi-asserted-by":"crossref","first-page":"e892","DOI":"10.1002\/mgg3.892","article-title":"SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus","volume":"7","author":"Jin","year":"2019","journal-title":"Mol Genet Genomic Med"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0029","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1038\/s41431-018-0324-y","article-title":"Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries","volume":"27","author":"Meier","year":"2019","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0030","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1002\/ajmg.a.61453","article-title":"Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families","volume":"182","author":"Preiksaitiene","year":"2020","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0031","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1038\/s41436-018-0298-8","article-title":"Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies","volume":"21","author":"Quinlan-Jones","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0032","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1038\/s10038-020-00869-8","article-title":"Whole exome sequencing of fetal structural anomalies detected by ultrasonography","volume":"66","author":"Aoi","year":"2021","journal-title":"J Hum Genet"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0033","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1002\/pd.5781","article-title":"A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound","volume":"40","author":"Corsten-Janssen","year":"2020","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0034","doi-asserted-by":"crossref","first-page":"972","DOI":"10.1002\/pd.5717","article-title":"Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging","volume":"40","author":"Deden","year":"2020","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0035","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1111\/cge.14070","article-title":"Prenatal exome sequencing: a useful tool for the fetal neurologist","volume":"101","author":"de Koning","year":"2022","journal-title":"Clin Genet"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0036","doi-asserted-by":"crossref","DOI":"10.1016\/j.ejmg.2021.104288","article-title":"Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies","volume":"64","author":"Lei","year":"2021","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0037","doi-asserted-by":"crossref","first-page":"e3417","DOI":"10.1002\/jgm.3417","article-title":"Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene","volume":"24","author":"Wang","year":"2022","journal-title":"J Gene Med"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0038","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1002\/pd.6115","article-title":"Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: a systematic review and meta-analysis","volume":"42","author":"Mellis","year":"2022","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0039","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1002\/pd.6145","article-title":"Fetal central nervous system anomalies: when should we offer exome sequencing?","volume":"42","author":"Baptiste","year":"2022","journal-title":"Prenat Diagn"},{"key":"10.1016\/j.ajogmf.2023.101048_bib0040","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1053\/j.semperi.2015.09.009","article-title":"Rapid whole genome sequencing and precision neonatology","volume":"39","author":"Petrikin","year":"2015","journal-title":"Semin Perinatol"}],"container-title":["American Journal of Obstetrics & Gynecology MFM"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589933323001908?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589933323001908?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T23:53:01Z","timestamp":1762905181000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2589933323001908"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9]]},"references-count":40,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2023,9]]}},"alternative-id":["S2589933323001908"],"URL":"https:\/\/doi.org\/10.1016\/j.ajogmf.2023.101048","relation":{},"ISSN":["2589-9333"],"issn-type":[{"value":"2589-9333","type":"print"}],"subject":[],"published":{"date-parts":[[2023,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis","name":"articletitle","label":"Article Title"},{"value":"American Journal of Obstetrics & Gynecology MFM","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajogmf.2023.101048","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"101048"}}