FETAL ASCITES AND OLIGOHYDRAMNIOS - PRENATAL-DIAGNOSIS OF A SIALIC-ACID STORAGE DISEASE (INDEX CASE)

In a 20-year-old primiparous patient, a routine ultrasound scan perfor med at 28 weeks revealed fetal ascites, bilateral talipes, and oligohy dramnios. This woman, married to possibly her first cousin, was at ris k for an autosomal recessive disease, a metabolic disorder. At 29 week s, an amniotic fluid biochemical study revealed the presence of an abn ormal band of free sialic acid, leading to a diagnosis of a congenital form of sialic acid storage disease. Termination of pregnancy was per formed at 30 weeks. Measurement of free sialic acid in cultured fetal skin fibroblasts confirmed the diagnosis.