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Multicenter Study
. 2023 Feb;43(2):183-191.
doi: 10.1002/pd.6302. Epub 2023 Jan 31.

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

Ivonne Bedei  1 , Karl-Philipp Gloning  2 , Luc Joyeux  3   4   5   6 , Matthias Meyer-Wittkopf  7 , Daria Willner  8 , Martin Krapp  9 , Alexander Scharf  10 , Jan Degenhardt  11 , Kai-Sven Heling  12 , Peter Kozlowski  13 , Kathrin Trautmann  14 , Kai M Jahns  15 , Annegret Geipel  16 , Ismail Tekesin  17 , Michael Elsässer  18 , Lucas Wilhelm  19 , Ingo Gottschalk  20 , Jan-Erik Baumüller  21 , Cahit Birdir  22 , Andreas Schröer  23 , Felix Zöllner  1 , Aline Wolter  1 , Johanna Schenk  1 , Tascha Gehrke  1 , Alicia Spaeth  1 , Roland Axt-Fliedner  1
Affiliations
Multicenter Study

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

Ivonne Bedei et al. Prenat Diagn. 2023 Feb.

Abstract

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.

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References

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