Recent developments in fetal nucleic acids in maternal plasma: implications to noninvasive prenatal fetal blood group genotyping

Transfus Clin Biol. Mar-Apr 2006;13(1-2):50-2. doi: 10.1016/j.tracli.2006.02.010. Epub 2006 Mar 23.


The discovery of circulating cell-free fetal DNA in maternal plasma has opened up new possibilities for noninvasive prenatal diagnosis. Fetal DNA in maternal plasma has been used for the noninvasive prenatal determination of the RhD status of fetuses carried by RhD-negative pregnant women. In such analysis, the possible need of an internal control for the presence of detectable amounts of fetal DNA in a particular maternal plasma sample has been actively discussed. Recently, the development of a robust method for discriminating single nucleotide differences in plasma DNA using single allele base extension reaction (SABER) followed by matrix-assisted laser-desorption and ionization time-of-flight mass spectrometry (MALDI-TOF MS) has opened up the possibilities of using a panel of single nucleotide polymorphisms as such a positive control. A second approach is the recent successful development of fetal epigenetic markers which can be developed into universal fetal DNA markers. These developments hold promise to allow the eventual widespread utilization of maternal plasma DNA analysis for the noninvasive prenatal diagnosis of blood group mismatches between the mother and fetus.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Blood Group Antigens / genetics*
  • Blood Group Incompatibility / diagnosis*
  • Blood Group Incompatibility / embryology
  • Blood Grouping and Crossmatching / methods*
  • DNA / blood*
  • DNA Methylation
  • Epigenesis, Genetic
  • Erythroblastosis, Fetal / prevention & control
  • Female
  • Fetal Blood / immunology
  • Fetomaternal Transfusion*
  • Genotype
  • Humans
  • Polymorphism, Single Nucleotide
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Rh Isoimmunization
  • Rh-Hr Blood-Group System / genetics
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization


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