Turner syndrome‐omphalocele association: Incidence, karyotype, phenotype and fetal outcome. (31st January 2023) - Bedei, Ivonne
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. Key points: What are the novel findings of this work? Omphalocele is known to be associated with chromosomal anomalies, mostly Trisomy 13, 18 and Beckwith–Wiedemann syndrome. The association with Turner syndrome has been described only sporadically. What are the clinical implications of this work? We report a significant incidence of omphalocele in prenatally diagnosed fetuses with Turner syndrome and a 45, X karyotype