Complex Exomphalos in a Chromosomally Normal Fetus: A Case Report

Omphalocele (exomphalos) is a congenital anterior abdominal wall defect frequently associated with chromosomal or structural anomalies. Environmental and infectious factors have been infrequently implicated.

Case Report

A 29-year-old woman (G7P3) presented at 11 weeks’ gestation. She smoked 15 cigarettes/day and reported alcohol intake of 7–15 units/week prior to pregnancy, reduced to minimal use after 8 weeks’ gestation. She was not taking folate. First-trimester screening showed low aneuploidy risk but identified an omphalocele (nuchal translucency 2.8 mm).

Tertiary ultrasound at 14 weeks revealed a large, complex omphalocele containing liver and bowel, with absent covering membrane, thoracic hypoplasia, and thoracolumbar scoliosis. No cardiac or limb anomalies were detected. After counseling, the couple opted for medical termination at 15 weeks.

Fetal karyotype was normal (46,XY), and chromosomal microarray showed no pathogenic copy number variants. Placental examination demonstrated immaturity (<5th centile). Infectious PCR testing of placental tissue was negative except for herpes simplex virus type 2 (HSV-2), which was positive.

Conclusion

This case describes a rare presentation of complex omphalocele with thoracic hypoplasia and scoliosis in a chromosomally normal fetus, with placental HSV-2 positivity and a history of early-pregnancy alcohol exposure. Although causality cannot be established, possible environmental and infectious contributors should be considered in complex abdominal wall defects.