beta-Glucuronidase deficiency: identification of an affected fetus with simultaneous sampling of chorionic villus and amniotic fluid

Prenat Diagn. 1993 Jun;13(6):429-33. doi: 10.1002/pd.1970130602.


Four pregnancies at risk for mucopolysaccharidosis VII were monitored by chorionic villus sampling obtained in the first or second trimester of gestation. One fetus showed reduced beta-glucuronidase activity following simultaneous sampling of chorionic villus and amniotic fluid at 17 weeks of gestation. The pregnancy was terminated. Subsequent assay of beta-glucuronidase activity in the fetal tissues was consistent with a diagnosis of mucopolysaccharidosis VII, thus confirming that chorionic villus samples provide useful information for diagnosis of this condition.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amniocentesis
  • Cells, Cultured
  • Chorionic Villi Sampling
  • Female
  • Fetal Diseases / diagnosis*
  • Follow-Up Studies
  • Gestational Age
  • Glucuronidase / deficiency*
  • Humans
  • Mucopolysaccharidosis VII / diagnosis*
  • Mucopolysaccharidosis VII / enzymology
  • Pregnancy
  • Risk Factors
  • Time Factors


  • Glucuronidase