Paper

Gastroschisis with Fetal Chromosomal Abnormality: A Case Report
Ismail Guler^a, Ahmet Erdem^a, Aydan Biri^a, Guven Gunaydin^a, Ercan Yilmaz^a, Mehmet Erdem^a, Meral Yirmibe Karaoguz^b

Departments of
^aObstetrics and Gynecology and
^bGenetics, Gazi University School of Medicine, Besevler-Ankara, Turkey

Address of Corresponding Author

Fetal Diagn Ther 2007;22:274-276 (DOI: 10.1159/000100789)

  Key Words

• Aneuploidy
• Gastroschisis
• Cystic hygroma
• Turner syndrome

  Abstract

Gastroschisis is a rare anomaly and it is usually not associated with other syndromic or nonsyndromic anomalies. The first case of gastroschisis with aneuploidy (Turner syndrome) is presented. A fetal huge cystic hygroma was diagnosed by prenatal sonography at 12 weeks of pregnancy and chorionic villi sampling (CVS) was performed. Cytogenetic analysis revealed 45, X0. The pregnancy was terminated by induction of labor at 16 weeks of pregnancy. The female fetus had a big membrane of cystic hygroma surrounding the fetal neck. Additionally, a full abdominal thickness defect with multiple loops of bowel outside the abdomen, which could not be diagnosed on prenatal ultrasound scan, was detected on postnatal examination.

Copyright © 2007 S. Karger AG, Basel

  Author Contacts

Dr. smail Guler
Gazi University School of Medicine
TR-06500 Besevler-Ankara (Turkey)
Tel. +90 312 202 59 19, Fax +90 312 215 77 36
E-Mail ismailg@gazi.edu.tr

  Article Information

Received: March 14, 2006
Accepted after revision: June 14, 2006
Published online: March 16, 2007
Number of Print Pages : 3
Number of Figures : 2, Number of Tables : 0, Number of References : 9