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Noninvasive fetal RHD genotyping from maternal plasma in an admixed Brazilian population
L C Schmidt1, A C V Cabral2, M A Faria3
1Departamento de Imunohematologia, Fundação Hemominas, Belo Horizonte, MG, Brasil luciana.cayres@hemominas.mg.gov.br.
Genetics and Molecular Research : GMR
|March 12, 2014
Summary
Noninvasive fetal Rhesus D (RHD) genotyping from maternal plasma accurately identifies fetal RhD status in admixed populations. This blood test offers a viable clinical tool for managing RhD-negative pregnancies.
Area of Science:
- Genetics
- Obstetrics
- Molecular Biology
Background:
- RhD hemolytic disease of the newborn (HDN) is a significant concern in RhD-negative pregnancies.
- Accurate fetal RhD genotyping is crucial for timely management and prevention of HDN.
- Admixed populations present unique challenges for genetic testing due to diverse ancestral backgrounds.
Purpose of the Study:
- To evaluate the efficacy of noninvasive fetal Rhesus D (RHD) genotyping using cell-free plasma DNA in an admixed Brazilian population.
- To assess the accuracy of this method by comparing fetal RHD genotype with neonatal RhD phenotype.
Main Methods:
- Collected maternal plasma samples from 55 RhD-negative pregnant women.
- Extracted cell-free plasma DNA and performed real-time PCR for RHD gene exons 5 and 7, and the SRY gene.
- Compared fetal RHD genotyping results with RhD phenotyping of newborn cord blood.
Main Results:
- Successful RHD genotyping was achieved in 50 out of 55 samples (90.9%).
- Of 43 samples with conclusive results, only one discordant case was observed (2.3%), attributed to false-negative serology.
- One false-negative SRY genotyping result was noted.
Conclusions:
- Noninvasive fetal RHD genotyping from maternal plasma demonstrates high accuracy in an admixed population.
- This method is a viable and reliable clinical tool for managing RhD-negative pregnancies.
- It facilitates targeted interventions, potentially reducing unnecessary treatments for RhD-negative mothers.
