Journal article
Authors list: Bedei, Ivonne; Gloning, Karl-Philipp; Joyeux, Luc; Meyer-Wittkopf, Matthias; Willner, Daria; Krapp, Martin; Scharf, Alexander; Degenhardt, Jan; Heling, Kai-Sven; Kozlowski, Peter; Trautmann, Kathrin; Jahns, Kai M.; Geipel, Annegret; Tekesin, Ismail; Elsaesser, Michael; Wilhelm, Lucas; Gottschalk, Ingo; Baumueller, Jan-Erik; Birdir, Cahit; Schroeer, Andreas; Zoellner, Felix; Wolter, Aline; Schenk, Johanna; Gehrke, Tascha; Spaeth, Alicia; Axt-Fliedner, Roland
Publication year: 2023
Pages: 183-191
Journal: Prenatal Diagnosis
Volume number: 43
Issue number: 2
ISSN: 0197-3851
eISSN: 1097-0223
Open access status: Hybrid
DOI Link: https://doi.org/10.1002/pd.6302
Publisher: Wiley
Abstract:
ObjectiveOmphalocele 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. MethodRetrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound. Results680 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. ConclusionTS 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.
Citation Styles
Harvard Citation style: Bedei, I., Gloning, K., Joyeux, L., Meyer-Wittkopf, M., Willner, D., Krapp, M., et al. (2023) Turner syndrome-omphalocele association: Incidence, karyotype, phenotype and fetal outcome, Prenatal Diagnosis, 43(2), pp. 183-191. https://doi.org/10.1002/pd.6302
APA Citation style: Bedei, I., Gloning, K., Joyeux, L., Meyer-Wittkopf, M., Willner, D., Krapp, M., Scharf, A., Degenhardt, J., Heling, K., Kozlowski, P., Trautmann, K., Jahns, K., Geipel, A., Tekesin, I., Elsaesser, M., Wilhelm, L., Gottschalk, I., Baumueller, J., Birdir, C., ...Axt-Fliedner, R. (2023). Turner syndrome-omphalocele association: Incidence, karyotype, phenotype and fetal outcome. Prenatal Diagnosis. 43(2), 183-191. https://doi.org/10.1002/pd.6302
Keywords
ABDOMINAL-WALL DEFECTS; ABNORMALITIES; EXOMPHALOS; FETUS; GASTROSCHISIS; MIDGUT HERNIATION; PRENATAL-DIAGNOSIS
