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Multiple sulphatase deficiency: Prenatal diagnosis using chorionic villi
Author(s) -
Patrick A. D.,
Young Elisabeth,
Ellis Cheryl,
Rodeck C. H.
Publication year - 1988
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.1970080410
Subject(s) - chorionic villi , chorionic villus sampling , prenatal diagnosis , pregnancy , fetus , first trimester , endocrinology , medicine , second trimester , biology , andrology , genetics
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.