Prenatal Enzymatic Diagnosis of Lysosomal Storage Diseases Using Cultured Amniotic Cells, Uncultured Chorionic Villus Samples, and Fetal Blood Cells: Hacettepe Experience

Abstract

What's already known? Prenatal diagnosis of lysosomal storage diseases is important to avoid high morbidity and mortality. What does this study add? Enzyme analysis may be alone used safely for the prenatal diagnosis of lysosomal storage disases. In populations with a high rate of consanguinity such as ours, prenatal diagnosis of lysosomal storage diseases is also more important due to increased rates of the disease, and enzyme analysis may be chosen for the prenatal diagnosis.