Premium
First‐trimester diagnosis of metachromatic leucodystrophy
Author(s) -
Fensom A. H.,
Marsh Jane,
Jackson Marie,
McGuire V. Mary,
Vimal Christina,
Nicolaides K.,
Sheridan R.
Publication year - 1988
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1988.tb02847.x
Subject(s) - chorionic villi , metachromatic leukodystrophy , prenatal diagnosis , metachromasia , fetus , chorionic villus sampling , pregnancy , medicine , andrology , chemistry , endocrinology , biology , pathology , genetics , staining
Two pregnancies at risk for late infantile metachromatic leucodystrophy were monitored by assaying arylsulphatase A at 0°C in homogenates of chorionic villi. In one, the very low activity recorded indicated the fetus to be affected, and this was confirmed by demonstration of low arylsulphatase A activity in cultured villi and cultured fetal fibroblasts after termination. In the other pregnancy, normal activity was found in the villi and the pregnancy is continuing. This simple chromogenic assay appears to be reliable for first‐trimester diagnosis of metachromatic leucodystrophy. However, there is a probability of mis‐diagnosis if the standard assay at 37°C is used.