Multiple sulphatase deficiency: prenatal diagnosis using chorionic villi

Abstract

Multiple sulphatase deficiency was diagnosed in the first trimester of pregnancy by demonstrating markedly reduced activities of arylsulphatases and heparin sulphamidase by direct assays on chorionic villi (CV). The diagnosis was confirmed by assays on cell cultures of villi and fetal skin fibroblasts. Two further pregnancies of this mother were monitored similarly and predicted to be unaffected; one produced a normal healthy infant, the other miscarried shortly after CV sampling.