{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T19:00:20Z","timestamp":1774551620772,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,3,17]],"date-time":"2021-03-17T00:00:00Z","timestamp":1615939200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Describe the prevalence, perinatal and long\u2010term outcomes of Beckwith\u2010Wiedemann syndrome (BWS) among prenatally detected omphaloceles.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>All prenatally diagnosed omphaloceles from 2010 to 2015 within a single tertiary care centre were identified. An echocardiogram and detailed fetal ultrasound were performed, and amniocentesis was offered with karyotype\/microarray analysis and BWS molecular testing. Perinatal, neonatal, and long\u2010term outcomes were retrieved for BWS cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Among 92 omphaloceles, 62 had additional anomalies. Abnormal karyotypes were identified in 23\/62 (37%) non\u2010isolated and 2\/30 (7%) isolated cases. One BWS case (5%) was identified among non\u2010isolated omphaloceles and six BWS cases (37.5%) were identified among isolated omphaloceles after exclusion of aneuploidy. Among 19 BWS cases, 21% were conceived by ART. All omphaloceles underwent primary closure. Prenatally, macrosomia and polyhydramnios were seen in 42%. Macroglossia and nephromegaly were more commonly detected postnatally. Preterm birth occurred in 10\/19 (53%) cases and cesarean deliveries were performed in 7\/19 (40%) cases. Overall mortality was 20% (4\/19). Embryonal tumors were diagnosed in 2\/16 (12.5%) children, and neurodevelopmental outcomes were normal in 9\/12 (75%) survivors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>After excluding aneuploidy, BWS was identified in 37.5% and 5% of isolated and non\u2010isolated omphaloceles, respectively. Omphaloceles were small\u2010moderate size with good long\u2010term surgical and neurodevelopmental outcomes when isolated.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.5930","type":"journal-article","created":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T12:29:43Z","timestamp":1615292983000},"page":"798-816","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Prenatally diagnosed omphaloceles: Report of 92 cases and association with Beckwith\u2010Wiedemann syndrome"],"prefix":"10.1002","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4426-7631","authenticated-orcid":false,"given":"Nimrah","family":"Abbasi","sequence":"first","affiliation":[{"name":"Department of Obstetrics and Gynecology The Ontario Fetal Center Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aideen","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Division of Neonatology Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priscilla","family":"Chiu","sequence":"additional","affiliation":[{"name":"Division of General and Thoracic Surgery Department of Surgery The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greg","family":"Ryan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology The Ontario Fetal Center Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosanna","family":"Weksberg","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Pediatrics The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"},{"name":"Department of Molecular Genetics University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheryl","family":"Shuman","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics University of Toronto  Toronto Ontario Canada"},{"name":"Department of Genetic Counselling The Hospital for Sick Children  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie","family":"Steele","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics University of Toronto  Toronto Ontario Canada"},{"name":"Genome Diagnostics The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1944-7294","authenticated-orcid":false,"given":"David","family":"Chitayat","sequence":"additional","affiliation":[{"name":"Division of Clinical and Metabolic Genetics Department of Pediatrics The Hospital for Sick Children University of Toronto  Toronto Ontario Canada"},{"name":"Department of Molecular Genetics University of Toronto  Toronto Ontario Canada"},{"name":"Prenatal Diagnosis and Medical Genetics Department of Obstetrics and Gynecology Mount Sinai Hospital University of Toronto  Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1994.tb04219.x"},{"key":"e_1_2_8_3_1","volume-title":"Beckwith\u2010Wiedemann Syndrome. 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