Prenatal diagnosis of mucopolysaccharidosis by continuous, monodimensional electrophoresis of amniotic fluid glycosaminoglycans

Abstract

A continuous dimensional electrophoretic method was used in 15 urine samples of clinically diagnosed mucopolysaccharidoses I or IV. Twelve of the 15 were glycosaminoglycans band positive. Of the 12 one was KS band positive but methyl toluidine blue test was negative. The other 11 were positive with both methods. Prenatal diagnosis was done in 10 cases during their next pregnancy with the same method on the amniotic fluid. Two affected fetuses were diagnosed and proved, one after induced abortion and the other after full-term delivery.