AMNIOTIC-FLUID FOR SCREENING OF LYSOSOMAL STORAGE DISEASES PRESENTINGIN-UTERO (MAINLY AS NONIMMUNE HYDROPS-FETALIS)

Seventy amniotic fluids (AF) were sampled because of abnormal ultrasou nd findings (mainly non-immune hydrops fetalis (54 cases) or of the pr esence of vacuolated lymphocytes in fetal blood (3 cases)). They were analysed by a procedure involving AF supernatant analysis (glycosamino glycans, oligosaccharides, free sialic acid and acid hydrolase activit ies) and biochemical study of cultured AF cells. Ten cases of lysosoma l storage diseases (LSD) were diagnosed. The reported procedure allows an orientating screening within 3 days by analysis of 15 mi of third trimester AF supernatant (except for Gaucher and Niemann-Pick diseases ). In some cases, the results allow an LSD diagnosis and a medical abo rtion without waiting for the formal diagnosis (in cultured AF cells t hat needs 3 more weeks), considering the poor prognosis of these LSD p resenting in utero. Furthermore, the formal assessment of the diagnosi s in the cultured fetal cells allows accurate genetic counselling for the couple.