Gaucher's disease and non-immune hydrops

A 20-year-old black primigravida with an unremarkable family history presented at 24 weeks gestation with a fetus with non-immune hydrops. Autopsy studies were significant for Type II Gaucher's disease. Enzyme assays from pulmonary fibroblasts confirmed the diagnosis. Gaucher's disease is a rare cause of non-immune hydrops and should be considered in the differential diagnosis of non-immune hydrops when other more common causes are not readily apparent. Although rare, it is essential to make the diagnosis so that genetic counseling and subsequent prenatal diagnosis can be offered in this autosomal recessive condition. Diagnosis can be made prenatally with either amniocentesis or chorionic villus sampling. Since there is no treatment for Gaucher's disease, invasive intervention for the pregnancy is contraindicated.