Non-invasive fetal RHD and RHCE genotyping from maternal plasma in alloimmunized pregnancies

Prenat Diagn. 2005 Dec;25(12):1079-83. doi: 10.1002/pd.1282.

Abstract

Background: In this prospective study, we assessed the feasibility of fetal RH genotyping by analysis of DNA extracted from maternal plasma samples of alloimmunized pregnant women using real-time PCR and primers and probes targeted toward RHD (exon 7 and exon 10) and RHCE (intron 2 and exon 5) genes.

Methods: We analysed 23 alloimmunized pregnant women (16 anti-D, 5 anti-D + C, 2 anti-E) at risk of haemolytic disease of the newborn (HDN) within 11th and 37th week of pregnancy and correlated the results with serological analysis of cord blood.

Results and conclusion: Detection of the presence of the RHD gene, the C and/or E alleles of the RHCE gene in maternal plasma samples is highly accurate and enables implementation in a clinical diagnostic algorithm for following pregnancies at risk for HDN. The absence of RHD gene, the C and/or E alleles of RHCE gene in the current pregnancy excludes the risk of HDN caused by anti-D, anti-C and/or anti-E alloantibodies and the performance of invasive fetal-blood sampling.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA / blood
  • Erythroblastosis, Fetal / blood
  • Erythroblastosis, Fetal / diagnosis*
  • Erythroblastosis, Fetal / genetics*
  • Female
  • Genotype
  • Gestational Age
  • Humans
  • Phenotype
  • Polymerase Chain Reaction
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Prospective Studies
  • Rh Isoimmunization / blood
  • Rh Isoimmunization / diagnosis*
  • Rh-Hr Blood-Group System / genetics*

Substances

  • RHCE protein, human
  • Rh-Hr Blood-Group System
  • Rho(D) antigen
  • DNA