Original Research Article

Molecular Diagnosis

, Volume 8, Issue 1, pp 23-31

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

  • Christelle Rouillac-Le SciellourAffiliated withPerinatal Hemobiology National Reference Centre, Centre National de Référence d’Hémobiologie Périnatale (CNRHP), Hôpital Saint-Antoine Email author 
  • , Philippe PuillandreAffiliated withPerinatal Hemobiology National Reference Centre, Centre National de Référence d’Hémobiologie Périnatale (CNRHP), Hôpital Saint-Antoine
  • , Rolande GillotAffiliated withPerinatal Hemobiology National Reference Centre, Centre National de Référence d’Hémobiologie Périnatale (CNRHP), Hôpital Saint-Antoine
  • , Céline BaulardAffiliated withPerinatal Hemobiology National Reference Centre, Centre National de Référence d’Hémobiologie Périnatale (CNRHP), Hôpital Saint-Antoine
  • , Sylvain MétralAffiliated withPerinatal Hemobiology National Reference Centre, Centre National de Référence d’Hémobiologie Périnatale (CNRHP), Hôpital Saint-Antoine
  • , Caroline Le Van KimAffiliated withINSERM U76-INTS
  • , Jean-Pierre CartronAffiliated withINSERM U76-INTS
  • , Yves ColinAffiliated withINSERM U76-INTS
  • , Yves BrossardAffiliated withPerinatal Hemobiology National Reference Centre, Centre National de Référence d’Hémobiologie Périnatale (CNRHP), Hôpital Saint-Antoine

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Abstract

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.