Prenatal diagnosis of the Hurler syndrome: report on 40 pregnancies at risk.
In 40 pregnancies at risk for the Hurler syndrome 13 affected fetuses were detected by the demonstration of an alpha-L-iduronidase deficiency and an increased level of 35S-sulphate incorporation. The diagnosis were confirmed by the analysis of fetal tissues and/or cultured fetal skin fibroblasts. Microassays for alpha-L-iduronidase, using phenyl alpha-L-iduronide and more recently 4-methyl-umbelliferyl alpha-L-iduronide, enabled a reliable diagnosis to be made within 15 to 18 days after amniocentesis. 35S-sulphate incorporation has been a valuable adjunct in cases with a low (heterozygote) enzyme activity.
D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology / Q000201:enzymology; D002478:Cells, Cultured; D004796:Clinical Enzyme Tests; D005260:Female; D005333:Fetus / Q000378:metabolism; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007068:Iduronidase / Q000172:deficiency; D008099:Liver / Q000201:enzymology; D008059:Mucopolysaccharidosis I / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012306:Risk
D007068:Iduronidase