Prenatal diagnosis of haemophilia A by factor VIII gene analysis

Lancet. 1985 Jun 22;1(8443):1407-9. doi: 10.1016/s0140-6736(85)91842-2.

Abstract

Cloned factor VIII deoxyribose nucleic acid (DNA) sequences were used as probes in the prenatal diagnosis of haemophilia A. Fetal DNA from cultured amniotic fluid cells was examined for a DNA polymorphism within the factor VIII gene which marked the haemophilia A gene in the pregnant obligate carrier. The fetus was predicted to be an affected male, and the diagnosis of haemophilia A was confirmed both in utero and after termination of the pregnancy.

Publication types

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

MeSH terms

  • Adult
  • Autoradiography
  • DNA / analysis
  • Factor VIII / genetics*
  • Female
  • Fetal Diseases / diagnosis*
  • Genes
  • Genetic Carrier Screening
  • Genetic Markers*
  • Hemophilia A / diagnosis*
  • Hemophilia A / genetics
  • Humans
  • Male
  • Pedigree
  • Polymorphism, Genetic
  • Pregnancy
  • Prenatal Diagnosis*

Substances

  • Genetic Markers
  • Factor VIII
  • DNA