Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University Giessen, Giessen, Germany.
Prenatal Medicine and Genetics München, München, Germany.
Prenat Diagn. 2023 Feb;43(2):183-191. doi: 10.1002/pd.6302. Epub 2023 Jan 31.
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.
Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.
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.
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.
脐膨出已知与三体 13、18 和贝克威思-威德曼综合征等遗传异常有关，但与特纳综合征（TS）无关。我们的目的是评估 TS 胎儿脐膨出的发生率、这种与其他异常的表型关联、其核型以及胎儿结局。
对确诊为 TS 的胎儿进行回顾性多中心研究。数据从发送给产前超声专家的详细问卷中提取。
该分析纳入了 680 例确诊为 TS 的胎儿。在≥12 周诊断的胎儿中，小脐膨出的发生率为 3.1%。包括在 12 周前诊断的胎儿，发生率为 5.1%。受影响胎儿中 97.1%（34/35）有一个或多个相关异常，包括颈后透明带增加（≥3mm）和/或囊状水瘤（94.3%）、水肿/皮肤水肿（71.1%）和心脏异常（40%）。所有胎儿的核型均为 45,X。胎儿结局较差，仅 1 例存活。
45,X 核型的 TS 而不是 X 染色体变异与小脐膨出有关。这些胎儿大多有相关异常，预后不良。我们的数据提示 TS 与脐膨出有关，从早期妊娠就可发现这种关联。
