Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase a activity in chorion and cultured amniotic fluid cells | Zendy

Tsvetkova I. V. | Zendy; Zolotukhina T. V. | Zendy; Bakharev V. A. | Zendy; Rosenfeld E. L. | Zendy; Rosovsky I. S. | Zendy

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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.

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