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First‐trimester diagnosis of hunter syndrome: Very low iduronate sulphatase activity in chorionic villi from a heterozygous female fetus
Author(s) -
Cooper A.,
Thornley M.,
Wraith J. E.
Publication year - 1991
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.1970110911
Subject(s) - fetus , hunter syndrome , chorionic villi , prenatal diagnosis , endocrinology , medicine , chorionic villus sampling , biology , biopsy , andrology , pregnancy , genetics
Iduronate sulphatase activity was determined in uncultured chorionic villi from four fetuses at risk for Hunter syndrome. AH fetuses were shown to be female by chromosome analysis. Biopsy material from three fetuses showed iduronate sulphatase activity within normal limits whilst the fourth fetus showed activity reduced to 7 per cent of our control mean. The importance of fetal sexing in prenatal diagnosis of this condition is emphasized as female carrier fetuses may show iduronate sulphatase activity reduced to levels observed in affected males.