Beta-glucuronidase deficiency as cause of recurrent hydrops fetalis: the first early prenatal diagnosis by chorionic villus sampling

Prenat Diagn. 1998 Sep;18(9):959-62. doi: 10.1002/(sici)1097-0223(199809)18:9<959::aid-pd372>;2-i.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Amniocentesis
  • Cells, Cultured
  • Chorionic Villi / enzymology
  • Chorionic Villi Sampling*
  • Diseases in Twins
  • Female
  • Fibroblasts / enzymology
  • Gestational Age*
  • Glucuronidase / deficiency*
  • Humans
  • Hydrops Fetalis / diagnostic imaging
  • Hydrops Fetalis / enzymology*
  • Male
  • Pregnancy
  • Recurrence
  • Ultrasonography, Prenatal


  • Glucuronidase