ABSTRACT

We reviewed the medical records and ultrasound data of cases diagnosed with abdominal wall defects from January 1993 to December 2005. We described the prenatal diagnosis, associated findings and outcome of these patients.

114 patients were diagnosed with abdominal wall defects. Of these, 69 had an omphalocele, 38 presented with gastroschisis and 7 were classified as body stalk syndrome. None of the fetuses with body stalk syndrome survived. Of fetuses with omphalocele, an abnormal karyotype was found in 23 cases, most frequently being trisomy 18 (17 cases). Associated anomalies in fetuses with omphalocele and normal karyotype were found in 26 cases. Of fetuses with gastroschisis, 97.37% had a normal karyotype. The average length of hospitalization was longer for infants with gastroschisis. In fetuses with gastroschisis, serial ultrasound examinations allowed follow-up of the intestine status and early recognition of intestinal atresia / stenosis through dilation of intra-abdominal intestinal loops.

Abdominal wall defects are common fetal anomalies recognizable by ultrasound examinations during pregnancy. The outcome of fetuses with gastroschisis was shown to depend mainly on the intestine status, while for infants with omphalocele, the associated anomalies were the most important factors in surviving. Fetal karyotyping should be offered in cases with abdominal wall defect. Interdisciplinary prenatal consultation of the neonatologist and the paediatric surgeon will favourably influence the perinatal outcome.

Keywords: fetal abdominal wall defects, omphalocele-gastroschisis-body stalk syndrome, associated fetal anomalies, prenatal diagnosis.