Outcome of Fetal Omphalocele According to Omphalocele Content Combined with Associated Anomaly

Jung, Sung Il; Cho, Jeong Yeon; Ryu, Jung Kyu

Abstract

PURPOSE
To evaluate the risk of chromosomal abnormality and outcome of fetal omphalocele according to the omphalocele contents combined with associated anomalies. MATERIALS AND METHODS: We retrospectively reviewed the sonograms and case records of 39 fetuses with an omphalocele prenatally detected by ultrasound between 1996 and 2004. We categorized them into two groups according to the omphalocele contents, and the two groups were further subdivided according to the presence or absence of associated anomalies on the prenatal ultrasound. We compared the risk of chromosomal abnormality and fetal outcome according to the omphalocele contents combined with associated anomalies. RESULTS: We categorized the 39 fetuses with an omphalocele into 20 cases with a liver- and bowelcontaining (group I) omphalocele and 19 cases with a bowel-only (group II) omphalocele. Seven of 20 (35%) fetuses with group I omphalocele and 17 of 19 (89%) with group II omphalocele had associated anomalies. Fetal karyotyping was performed in 31 of the 39 fetuses: in group II omphalocele, 13 of the 14 tested fetuses (93%) had chromosomal abnormalities, while in group I omphalocele, one of the 17 tested fetuses (6%) had chromosomal abnormalities. All 13 group II omphalocele with associated anomaly showed abnormal karyotype. Fourteen of 39 (36%) fetuses survived, including 13 fetuses with group I omphalocele (13/20, 65%) and one with group II omphalocele (1/19, 5%). Eleven of 13 (85%) fetuses with isolated group I omphalocele showed good outcome, while no group II omphalocele with associated anomaly survived. CONCLUSION: The bowel-only omphalocele with associated anomalies suggests a very high risk of chromosomal abnormality and a poor outcome. The isolated liver- and bowel-containing omphalocele has a good outcome with a low risk of chromosomal abnormality. Sonographic evaluation of the omphalocele contents and associated anomalies is essential to predict the prognosis of the fetal omphalocele.