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Turner syndrome-omphalocele association: Incidence,karyotype, phenotype and fetal outcome |
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| Authors: | Ivonne Bedei Karl-Philipp Gloning Luc Joyeux Matthias Meyer-Wittkopf Daria Willner Martin Krapp Alexander Scharf Jan Degenhardt Kai-Sven Heling Peter Kozlowski Kathrin Trautmann Kai M Jahns Annegret Geipel Ismail Tekesin Michael Elsässer Lucas Wilhelm Ingo Gottschalk Jan-Erik Baumüller Cahit Birdir Andreas Schröer Felix Zöllner Aline Wolter Johanna Schenk Tascha Gehrke Alicia Spaeth Roland Axt-Fliedner |
| Institution: | 1. Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University Giessen, Giessen, Germany;2. Prenatal Medicine and Genetics München, München, Germany;3. Division of Pediatric Surgery, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA
Texas Children's Fetal Center, Texas Children's Hospital and Baylor College of Medicine, Houston, Texas, USA Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas, USA MyFetUZ Fetal Research Center, Department of Development and Regeneration, Biomedical Sciences, KU Leuven, Leuven, Belgium;4. Center for Prenatal Diagnosis, Mathias-Spital, Rheine, Germany;5. Center for Prenatal Medicine and Human Genetics, Hamburg, Germany;6. Center for Prenatal Medicine on Elbe, Hamburg, Germany;7. Center for Prenatal Medicine, Mainz, Germany;8. Praenatal plus, Köln, Germany;9. Center of Prenatal Diagnosis and Human Genetics, Berlin, Germany;10. Praenatal.de, Prenatal Medicine and Genetics Düsseldorf, Düsseldorf, Germany;11. Center for Prenatal Medicine “am Salzhaus”, Frankfurt, Germany;12. Department of Internal Medicine, Johannes Gutenberg University, Mainz, Germany;13. Obstetrics and Prenatal Medicine, University Hospital Bonn, Bonn, Germany;14. Prenatal Medicine Stuttgart, Stuttgart, Germany;15. Department of Gynecology and Obstetrics, Heidelberg University Hospital, Heidelberg, Germany;16. Westend Ultrasound, Frankfurt, Germany;17. Division of Prenatal Medicine, Department of Obstetrics and Gynecology, University of Cologne, Cologne, Germany;18. Gynaekologikum, Frankfurt, Germany;19. Department of Obstetrics and Gynecology, University Hospital Carl Gustav Carus Dresden, Dresden, Germany;20. Center for Prenatal Diagnosis Berlin, Berlin, Germany |
| 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. |
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