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

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.

Feet edema and growth retardation in Turner syndrome by prenatal ultrasonography: a case report and literature review

“…Besides that, a gradually apparent IUGR was also observed in the present case, which was characterized by the limited growth of both femur and humerus and the length of both long bones also presented a progressive growth retardation with gestation weeks. IUGR occurred in 25 cases as five literatures reported [6,7,8,12,14], among which total 21 cases reported the short femur and 4 cases reported IUGR without specific growth parameters indicating.…”

“…Fetal manifestation of edema in the hands, feet, and back is extremely rare. Only 3 cases with edema of feet in the fetal period was reported, two of them were presented as case report [11] reporting single ultrasonographic finding of dorsal foot edema in a female fetus; and the other one was presented in a retrospective study as associated findings with omphalocele [12]. There were no reports about the edema of hands detected by prenatal ultrasound so far although lymphedema is a common finding in infants with TS, who may have congenital lymphedema of the hands and feet.…”

Omphalocele and Cardiac Abnormalities—The Importance of the Association

“…There are studies that have analyzed fetuses with Turner syndrome and small omphalocele; the affected fetuses are at a high risk of miscarriage and intrauterine fetal death, especially with the karyotype 45,X, and if fetal hydrops is present. In a study on thirty-five fetuses with Turner syndrome and omphalocele, the detected cardiac anomalies were VSD/AVSD (5/35 cases), AVSD with coarctation of the aorta (1/35), hypoplastic left heart (3/35), coarctation of the aorta in one case, and pulmonary insufficiency in another case (at 25 weeks GA) [ 38 ]. In these cases with associated cardiac abnormalities, the pregnancy outcome was poor.…”

Prenatal screening and diagnosis of sex chromosome conditions: The new normal?

“…The impact of SCA screening is already evident in Australia, where a population‐based study has demonstrated a significant increase in the prenatal detection of SCAs, most notably 47,XXY, since the availability of NIPT 4 . In concert with these trends, we continue to integrate information about fetal sex chromosomes with prenatal ultrasound findings, including the assessment of atypical genitalia, 5 management of suspected X chromosome variants and monosomy X, 6 and expanding knowledge about the prenatal phenotype of 45,X 7 and 47,XXY 8 . Furthermore, Scarff et al.…”