Use of bi-allelic insertion/deletion polymorphisms as a positive control for fetal genotyping in maternal blood: first clinical experience

Ann N Y Acad Sci. 2006 Sep:1075:123-9. doi: 10.1196/annals.1368.016.

Abstract

Amplification of fetal DNA in maternal plasma is a new way for non-invasive fetal genotyping in pregnancies at risk for disorders where the presence of a paternal DNA sequence contributes to the risk status of the fetus. We describe the use of a panel of 10 bi-allelic highly polymorphic markers to ascertain the presence and amplification of fetal DNA in case the fetus is negative for the targeted paternal "disease" sequence.

MeSH terms

  • Alleles
  • DNA / blood*
  • Female
  • Fetus / physiology*
  • Gene Deletion
  • Genetic Markers*
  • Genotype*
  • Humans
  • Male
  • Maternal-Fetal Exchange
  • Polymorphism, Genetic*
  • Pregnancy
  • Prenatal Diagnosis
  • Rh-Hr Blood-Group System / genetics

Substances

  • Genetic Markers
  • Rh-Hr Blood-Group System
  • Rho(D) antigen
  • DNA