Prenatal diagnosis of Hunter syndrome using fetal plasma

Prenat Diagn. 1988 Jan;8(1):59-62. doi: 10.1002/pd.1970080108.

Abstract

The X-linked Hunter syndrome or mucopolysaccharidosis II was diagnosed in a male fetus by demonstrating a severe deficiency of iduronate 2-sulphate sulphatase activity in fetal plasma obtained by umbilical fetal blood sampling at 23 weeks of pregnancy. The diagnosis was confirmed after termination of pregnancy.

Publication types

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

MeSH terms

  • Female
  • Fetal Blood / enzymology*
  • Fetal Diseases / diagnosis*
  • Humans
  • Iduronate Sulfatase / analysis
  • Male
  • Mucopolysaccharidosis II* / diagnosis*
  • Pregnancy
  • Prenatal Diagnosis / methods*

Substances

  • Iduronate Sulfatase