caa a22 4500 469045094 CHVBK 20180323132822.0 cr unu---uuuuu 170328e19920301xx s 000 0 eng 10.1007/BF01799636 doi (NATIONALLICENCE)springer-10.1007/BF01799636 Young E. Enzyme Unit, Division of Biochemistry and Metabolism, Institute of Child Health and Hospitals for Sick Children, WC1N 1EH, London, UK aut Prenatal diagnosis of Hurler disease by analysis of α-iduronidase in chorionic villi [Elektronische Daten] [E. Young] Summary: Twenty-four pregnancies at risk for Hurler disease (MPS I) were monitored by measurement of α-iduronidase in chorionic villi. Adequate samples were obtained for direct assay of the villi in 22 pregnancies. Five were found to be affected and the pregnancies were terminated. In another pregnancy an equivocal result was obtained on direct assay but analysis of the cultured chorionic cells showed the fetus to be affected. In one pregnancy where an exceptionally small biopsy was obtained, direct assay indicated the fetus to be unaffected. Following amniocentesis this result was shown to be incorrect. These results confirm that, provided an adequate sample is obtained, an accurate diagnosis can be made by direct assay of chorionic villi in pregnancies at risk for Hurler disease. SSIEM and Kluwer Academic Publishers, 1992 Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 224-230 0141-8955 15:2<224 1992 15 10545 https://doi.org/10.1007/BF01799636 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799636 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Young E. Enzyme Unit, Division of Biochemistry and Metabolism, Institute of Child Health and Hospitals for Sick Children, WC1N 1EH, London, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/2(1992-03-01), 224-230 0141-8955 15:2<224 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer