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The arylsulphatases of chorionic villi: potential problems in the first‐trimester diagnosis of metachromatic leucodystrophy and Maroteaux‐Lamy disease
Author(s) -
Sanguinetti N.,
Marsh Jane,
Jackson Marie,
Fensom A. H.,
Warren R. C.,
Rodeck C. H.
Publication year - 1986
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.1399-0004.1986.tb00611.x
Subject(s) - chorionic villi , metachromatic leukodystrophy , prenatal diagnosis , chorionic villus sampling , metachromasia , medicine , pregnancy , endocrinology , biology , pathology , fetus , genetics , staining
Three pregnancies at risk for late infantile metachromatic leucodystrophy have been monitored using chorionic villus biopsies. In the first of these a false negative diagnosis was made following assay of arylsulphatase A in villi. Subsequent studies have shown that this error was probably due to interference from another sulphatase in the villi, although the possibility that maternal contamination was also partly responsible could not be excluded. For reliable prenatal diagnosis of metachromatic leucodystrophy using chorionic villi it is advisable that studies with the nitrocatechol substrate are carried out on fractionated homogenates, or that the natural substrate is used. Problems may also occur when chorionic villi are used for assay of arylsulphatase B for first trimester diagnosis of Maroteaux‐Lamy disease.