Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutières syndrome

Fetal Diagn Ther. 2006;21(1):153-5. doi: 10.1159/000089067.

Abstract

A case of Aicardi-Goutières syndrome is described in a family with index cases. The diagnosis was made prenatally based on high fetal blood concentration of interferon alpha. The biological measurement could be of interest for further diagnosis of other cases.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biomarkers / blood
  • Biomarkers / cerebrospinal fluid
  • Female
  • Fetal Blood / metabolism*
  • Fetal Diseases / diagnosis*
  • Heredodegenerative Disorders, Nervous System / diagnosis*
  • Humans
  • Infant, Newborn
  • Interferon-alpha / blood*
  • Interferon-alpha / cerebrospinal fluid
  • Pregnancy
  • Prenatal Diagnosis*
  • Syndrome

Substances

  • Biomarkers
  • Interferon-alpha