Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling
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H W Van Eyndhoven1, H G Ter Brugge, A J Van Essen
1Department of Obstetrics and Gynaecology, De Weezenlanden Ziekenhuis, Zwolle, The Netherlands.
Prenatal Diagnosis
|October 30, 1998
Abstract:
We describe a patient with recurrent non-immune hydrops fetalis diagnosed as mucopolysaccharidosis type VII. This rare autosomal recessive disorder is caused by a beta-glucuronidase deficiency. Chorionic villus sampling was performed in the 11th week of the subsequent pregnancy and beta-glucuronidase deficiency in chorionic villi indicated that the fetus was affected. After termination in the 12th week, signs of early hydrops fetalis were observed.
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