Determination of RHD zygosity using real-time quantitative PCR

Swiss Med Wkly. 2003 Aug 9;133(31-32):442-5. doi: 10.4414/smw.2003.10164.

Abstract

At present RHD incompatibility is still an obstetric problem despite prophylactic treatment. A very welcome recent technical advance has now made it possible to determine the foetal RHD status in a non-invasive risk-free manner using cell free foetal DNA in maternal plasma. In some cases, however, where there is a high risk that the foetus may be affected by HDN (haemolytic disease of the newborn), it may be of interest to determine whether the father is hetero- or homozygous for the RHD gene, since in the former instance there is only a 50% chance that the pregnancy is affected. It has recently been shown that quantitative PCR assays, in particular real-time Taqman PCR, can be used to determine the RHD gene dosage, and also to determine foetal aneuploidies. We demonstrate that the same real-time Taqman PCR assay we had previously developed for non-invasive analysis of the foetal RHD gene and the foetal Y chromosome from maternal plasma can be used to determine the paternal RHD genotype.

MeSH terms

  • DNA / blood
  • Female
  • Fetal Blood*
  • Fetus
  • Gene Dosage
  • Genotype
  • Humans
  • Male
  • Polymerase Chain Reaction / methods*
  • Pregnancy / blood*
  • Rh-Hr Blood-Group System / blood
  • Rh-Hr Blood-Group System / genetics*
  • Rho(D) Immune Globulin / blood*
  • Rho(D) Immune Globulin / genetics

Substances

  • Rh-Hr Blood-Group System
  • Rho(D) Immune Globulin
  • DNA