Turner syndrome-omphalocele association: Incidence, karyotype, phenotype and fetal outcome

dc.contributor.authorBedei, Ivonne
dc.contributor.authorGloning, Karl-Philipp
dc.contributor.authorJoyeux, Luc
dc.contributor.authorMeyer-Wittkopf, Matthias
dc.contributor.authorWillner, Daria
dc.contributor.authorKrapp, Martin
dc.contributor.authorScharf, Alexander
dc.contributor.authorDegenhardt, Jan
dc.contributor.authorHeling, Kai-Sven
dc.contributor.authorKozlowski, Peter
dc.contributor.authorTrautmann, Kathrin
dc.contributor.authorJahns, Kai M.
dc.contributor.authorGeipel, Annegret
dc.contributor.authorTekesin, Ismail
dc.contributor.authorElsässer, Michael
dc.contributor.authorWilhelm, Lucas
dc.contributor.authorGottschalk, Ingo
dc.contributor.authorBaumüller, Jan-Erik
dc.contributor.authorBirdir, Cahit
dc.contributor.authorSchröer, Andreas
dc.contributor.authorZöllner, Felix
dc.contributor.authorWolter, Aline
dc.contributor.authorSchenk, Johanna
dc.contributor.authorGehrke, Tascha
dc.contributor.authorSpaeth, Alicia
dc.contributor.authorAxt-Fliedner, Roland
dc.date.accessioned2023-12-01T14:13:08Z
dc.date.available2023-12-01T14:13:08Z
dc.date.issued2023
dc.description.abstractObjective: Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann 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. Method: Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound. Results: 680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) 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. Conclusion: 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.
dc.identifier.urihttps://jlupub.ub.uni-giessen.de//handle/jlupub/18732
dc.identifier.urihttp://dx.doi.org/10.22029/jlupub-18096
dc.language.isoen
dc.rightsNamensnennung - Nicht kommerziell - Keine Bearbeitungen 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subject.ddcddc:610
dc.titleTurner syndrome-omphalocele association: Incidence, karyotype, phenotype and fetal outcome
dc.typearticle
local.affiliationFB 11 - Medizin
local.source.epage191
local.source.journaltitlePrenatal diagnosis
local.source.number2
local.source.spage183
local.source.urihttps://doi.org/10.1002/pd.6302
local.source.volume43

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