Gastroschisis with fetal chromosomal abnormality: a case report

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.