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Keywords:

  • rylsulphatase A;
  • arylsulphatase B;
  • arylsulphatase C;
  • chorionic villi;
  • lysosomal storage disease;
  • Maroteaux-Lamy disease;
  • metachromatic leucodystrophy;
  • prenatal diagnosis;
  • steroid sulphatase

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.