Omphalocele—is it as bad as we think? ▸

Omphalocele is a rare malformation (1 in 4000–10,000 deliveries) that is often associated with chromosomal anomalies or other major congenital anomalies. The perinatal mortality rate is approximately 30%. These researchers reviewed neonatal outcomes in all cases of omphalocele with a normal karyotype at a single institution between 1988 and 2001.

Thirty-six cases were reviewed; all but one were diagnosed prenatally by ultrasound. There were seven deaths: two intrauterine and five neonatal; the neonatal deaths were associated with other major anomalies. In all, there were 11 neonates in whom other major congenital anomalies were identified; 9 were diagnosed prenatally. There were seven cases of significant heart disease, four central nervous system defects, three genitourinary defects, four gastrointestinal anomalies, and one case of cleft palate. All five neonatal deaths occurred among the 11 infants with associated major congenital anomalies, whereas no deaths occurred among the 25 infants without such anomalies, a significant difference. Of 21 infants who were delivered by cesarean section, 90% had an extracorporeal liver. The authors conclude that their study provides additional evidence that outcomes in infants with omphalocele are improving and that mortality rates are low if there are no other major anomalies or genetic defects.

Comment ▸

Although this report is optimistic regarding the outcome of karyotypically normal neonates with omphalocele, it emphasizes the impact of other congenital anomalies. It is worth noting that …