{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,15]],"date-time":"2025-10-15T10:34:05Z","timestamp":1760524445748,"version":"3.40.5"},"reference-count":51,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,1,31]],"date-time":"2023-01-31T00:00:00Z","timestamp":1675123200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith\u2013Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed \u226512\u00a0weeks was 3.1%. Including fetuses diagnosed before 12\u00a0weeks, it was 5.1%. 97.1% (34\/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (\u22653\u00a0mm) and\/or cystic hygroma (94.3%), hydrops\/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6302","type":"journal-article","created":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T04:54:29Z","timestamp":1672894469000},"page":"183-191","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Turner syndrome\u2010omphalocele association: Incidence, karyotype, phenotype and fetal outcome"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7688-5357","authenticated-orcid":false,"given":"Ivonne","family":"Bedei","sequence":"first","affiliation":[{"name":"Department of Prenatal Diagnosis and Fetal Therapy Justus\u2010Liebig University Giessen  Giessen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karl\u2010Philipp","family":"Gloning","sequence":"additional","affiliation":[{"name":"Prenatal Medicine and Genetics M\u00fcnchen  M\u00fcnchen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luc","family":"Joyeux","sequence":"additional","affiliation":[{"name":"Division of Pediatric Surgery Texas Children's Hospital and Baylor College of Medicine  Houston Texas USA"},{"name":"Texas Children's Fetal Center Texas Children's Hospital and Baylor College of Medicine  Houston Texas USA"},{"name":"Michael E. 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