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Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase a activity in chorion and cultured amniotic fluid cells
Authors:Dr I V Tsvetkova  T V Zolotukhina  V A Bakharev  E L Rosenfeld  I S Rosovsky
Institution:Institute of Biological and Medical Chemistry, USSR Academy of Medical Sciences, All-Union Research Center of Maternity and Childhood of USSR Ministry of Public Health, Moscow
Abstract:Chorion biopsy specimens were used for prenatal assay of arylsulphatase A activity in a pregnant woman whose two children had died from metachromatic leukodystrophy (MLD). As in two subsequent pregnancies chorion arylsulphatase A was in the control range, it was concluded that both fetuses were healthy. Absence of MLD in the fetus from the first pregnancy was confirmed after assay of arylsuphatase A activity in fetal organs. The second pregnancy resulted in delivery of a healthy child.
Keywords:Chorion biopsy  Metachromatic leukodystrophy  Early prenatal exclusion
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