Guinchard Emmanuelle

EFS Rhône-Alpes, France

Title: Non-invasive fetal RHD genotyping: Validation of the method with 200 patients


I am an M.D/Ph.D in Biology. I work currently in a laboratory of a Health Clinical Center, CHU of Lyon. I specialize in immuno-haematology as well as in NIPT: fetal RHD genotyping on maternal plasma. I was invited to present this at several international conferences (ESHG 2012) and I am the author of a recently published article (Non-invasive fetal RHD genotyping: Validation of the method with 200 patients, TCB, 2014 ).


Background: Non invasive fetal RHD genotyping is an important tool to assess the risk of fetuse’s hemolytic disease of anti-D allo-immunized pregnant women by non invasive method Method: A method of genotyping has been developed in the laboratory of Lyon-GHE according to Minon’s team: Exon 4, 5, and 10 are amplified by real time PCR. At first, genotyping results of 200 pregnant women have been compared with RH1 phenotype at birth. Results: The most important parameters of validation have been tested: The sensibility and the specificity; the negative predictive value; the correlation study permitted to define criteria of biological interpretation. The validation of this method permitted to determine critical points and the limits of the method due to the minor amount of fetal DNA in the maternal plasma and existence of many variant forms of the RHD gene. Conclusion: Fetal RHD genotyping can optimize the obstetrical management of women RH -1 allo-immunized by a simple, reliable and minimally invasive method

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