DIAGNOSIS OF LYSOSOMAL STORAGE DISEASES WITH FETAL PRESENTATION

In metabolic diseases with fetal presentation, lysosomal storage disor ders represent a fairly homogeneous group. Hydrops fetalis or ascites is the main but non specific symptom. The relative frequency of lysoso mal storage diseases in this context is not well known and probably un derestimated. They represent 1.4% in a large retrospective series. the contribution of the placental and fetal examination in their diagnosi s is emphasized. The biological investigations required for their accu rate pre and postnatal diagnosis are described. the precise identifica tion of the lysosomal defect is necessary to propose an early prenatal diagnosis by chorionic villi biopsy in further pregnancies.