title: Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling.
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.
authors.affiliation: Department of Obstetrics and Gynaecology, De Weezenlanden Ziekenhuis, Zwolle, The Netherlands.
authors.forename: H W
authors.initials: HW
authors.lastname: Van Eyndhoven
authors.forename: H G
authors.initials: HG
authors.lastname: Ter Brugge
authors.forename: A J
authors.initials: AJ
authors.lastname: Van Essen
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000201:enzymology; D015193:Chorionic Villi Sampling; D004200:Diseases in Twins; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005865:Gestational Age; D005966:Glucuronidase / Q000172:deficiency*; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging / Q000201:enzymology*; D008297:Male; D011247:Pregnancy; D012008:Recurrence; D016216:Ultrasonography, Prenatal
chemical_list: D005966:Glucuronidase