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

Objective 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 karyotyp...

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Main Authors: Bedei, Ivonne (Author) , Gloning, Karl-Philipp (Author) , Joyeux, Luc (Author) , Meyer-Wittkopf, Matthias (Author) , Willner, Daria (Author) , Krapp, Martin (Author) , Scharf, Alexander (Author) , Degenhardt, Jan (Author) , Heling, Kai-Sven (Author) , Kozlowski, Peter (Author) , Trautmann, Kathrin (Author) , Jahns, Kai M. (Author) , Geipel, Annegret (Author) , Tekesin, Ismail (Author) , Elsässer, Michael (Author) , Wilhelm, Lucas (Author) , Gottschalk, Ingo (Author) , Baumüller, Jan-Erik (Author) , Birdir, Cahit (Author) , Schröer, Andreas (Author) , Zöllner, Felix (Author) , Wolter, Aline (Author) , Schenk, Johanna (Author) , Gehrke, Tascha (Author) , Spaeth, Alicia (Author) , Axt-Fliedner, Roland (Author)
Format: Article (Journal)
Language:English
Published: 04 January 2023
In: Prenatal diagnosis
Year: 2023, Volume: 43, Issue: 2, Pages: 183-191
ISSN:1097-0223
DOI:10.1002/pd.6302
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1002/pd.6302
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/pd.6302
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Author Notes:Ivonne Bedei, Karl-Philipp Gloning, Luc Joyeux, Matthias Meyer-Wittkopf, Daria Willner, Martin Krapp, Alexander Scharf, Jan Degenhardt, Kai-Sven Heling, Peter Kozlowski, Kathrin Trautmann, Kai M. Jahns, Annegret Geipel, Ismail Tekesin, Michael Elsässer, Lucas Wilhelm, Ingo Gottschalk, Jan-Erik Baumüller, Cahit Birdir, Andreas Schröer, Felix Zöllner, Aline Wolter, Johanna Schenk, Tascha Gehrke, Alicia Spaeth, Roland Axt-Fliedner
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Summary:Objective 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.
Item Description:Gesehen am 05.04.2023
Physical Description:Online Resource
ISSN:1097-0223
DOI:10.1002/pd.6302

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