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Prenatal exclusion of Hurler's disease by leucocyte α‐ L ‐iduronidase assay
Author(s) -
Rodeck C. H.,
Tansley Linda R.,
Benson P. F.,
Fensom A. H.,
Ellis Marie
Publication year - 1983
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.1970030113
Subject(s) - gestation , fetus , amniotic fluid , medicine , hurler syndrome , prenatal diagnosis , mucopolysaccharidosis i , pregnancy , pathology , andrology , disease , biology , genetics , enzyme replacement therapy
Hurler's disease was excluded in a fetus at 23 weeks' gestation by demonstrating normal iduronidase activity in fetal leucocytes following failure of amniotic cell culture after amnic‐centesis at 16 and 19 weeks' gestation. The diagnosis was confirmed in the neonate.