Molecular Diagnosis

, Volume 8, Issue 1, pp 23–31 | Cite as

Large-Scale Pre-Diagnosis Study of Fetal RHD Genotyping by PCR on Plasma DNA from RhD-Negative Pregnant Women

  • Christelle Rouillac-Le Sciellour
  • Philippe Puillandre
  • Rolande Gillot
  • Céline Baulard
  • Sylvain Métral
  • Caroline Le Van Kim
  • Jean-Pierre Cartron
  • Yves Colin
  • Yves Brossard
Original Research Article


Background: The routine prenatal determination of fetal RhD blood group would be very useful in the management of pregnancies in RhD-negative women, as up to 40% of these pregnancies bear a RhD-negative fetus. The fetal DNA present in maternal plasma offers an opportunity for risk-free prenatal diagnosis.

Aim: This study focused on the feasibility and accuracy of large-scale RhD fetal diagnosis in non-immunized and anti-D immunized RhD-negative women.

Methods: Plasma DNA was extracted from 893 RhD-negative pregnant women and amplified in exons 7 and 10 of the RHD gene using conventional and real-time PCR. The results were then compared with the RHD fetal genotype determined on amniotic cells and/or the RhD phenotype of the red blood cells of the infants at birth.

Results: After exclusion of 42 samples from women exhibiting a nonfunctional or rearranged RHD gene, fetal RhD status was predicted with a 99.5% accuracy. A strategy is also proposed to avoid the small number of false-positive and -negative results.

Conclusion: Fetal RHD genotyping from maternal plasma DNA in different clinical situations may be used with confidence.


Maternal Plasma Amniotic Cell Fetal Genotype Prenatal Determination Maternal Plasma Sample 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



No sources of funding were used in conducting the study, however the financial support of the Jacques BOY institute (Reims, France) was greatly appreciated.

The authors have no conflicts of interests relevant to the content of this study.


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Copyright information

© Adis Data Information BV 2004

Authors and Affiliations

  • Christelle Rouillac-Le Sciellour
    • 1
  • Philippe Puillandre
    • 1
  • Rolande Gillot
    • 1
  • Céline Baulard
    • 1
  • Sylvain Métral
    • 1
  • Caroline Le Van Kim
    • 2
  • Jean-Pierre Cartron
    • 2
  • Yves Colin
    • 2
  • Yves Brossard
    • 1
  1. 1.Perinatal Hemobiology National Reference Centre, Centre National de Référence d’Hémobiologie Périnatale (CNRHP)Hôpital Saint-AntoineParis Cedex 12France
  2. 2.INSERM U76-INTSParisFrance

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