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Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase a activity in chorion and cultured amniotic fluid cells
Author(s) -
Tsvetkova I. V.,
Zolotukhina T. V.,
Bakharev V. A.,
Rosenfeld E. L.,
Rosovsky I. S.
Publication year - 1983
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970030308
Subject(s) - metachromatic leukodystrophy , fetus , arylsulfatase a , amniotic fluid , prenatal diagnosis , pregnancy , amniocentesis , medicine , andrology , leukodystrophy , in utero , endocrinology , biology , pathology , disease , genetics
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.