Intrauterine Diagnosis of the Hurler and Hunter Syndromes

Abstract

Prenatal diagnosis was accomplished for two women who had previously borne children affected with genetic disorders of mucopolysaccharide metabolism — the Hurler syndrome (autosomal recessive) in one case and the Hunter syndrome (X-linked recessive) in the other. Amniotic fluid, which contains fetal cells, was obtained by transabdominal amniocentesis. After culture in vitro, the amniotic fluid cells displayed two characteristics (a distinctive kinetic pattern of radioactive sulfate incorporation into mucopolysaccharide and metachromatic staining with toluidine blue) that are also exhibited by cultured skin fibroblasts derived from patients with these metabolic disorders.