Prenatal diagnosis of Cantrell's pentalogy: a case report.

A 23 year-old nulliparous woman was admitted to the obstetrics clinic in the 12th week of her pregnancy. Following the first trimester scanning, the fetus was diagnosed as having a large omphalocele and ectopia cordis. It was thought to be a thoracoabdominal wall defect and a possible case of Cantrell's pentalogy. Amniocentesis was performed and at the 16th week, the pregnancy was terminated because of karyotype revealing trisomy 21 and the serious structural defects. Autopsy demonstrated an ectopia cordis without pericardium and an abdominal wall defect with an omphalocele. Fetus had no diaphragma or sternum, and pulmonary and extremity anomalies were also present. With these findings, this case is suggested to be a variant of Cantrell's pentalogy.