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

Ivonne Alexandra BedeiKarl-Philipp GloningLuc JoyeuxMatthias Meyer-WittkopfDaria WillnerMartin KrappAlexander ScharfJan DegenhardtKai-Sven HelingPeter KozlowskiKathrin TrautmannKai M JahnsAnnegret GeipelIsmail TekesinMichael ElsässerLucas WilhelmIngo GottschalkJan-Erik BaumüllerCahit BirdirAndreas SchröerFelix ZöllnerAline WolterJohanna SchenkTascha GehrkeAlicia SpaethRoland Axt-Fliedner

Published in: Prenatal diagnosis (2023)

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.

Keyphrases

poor prognosis
long non coding rna
copy number
risk factors
machine learning
big data
case report
artificial intelligence