RHD genotyping from maternal plasma: guidelines and technical challenges

Methods in Molecular Biology
Neil D Avent

Abstract

Rhesus D (RhD) blood group incompatibility between mother and fetus can occasionally result in maternal alloimmunization where the resultant anti-D can cross the placenta and attack the fetal red cells, which in worse case scenarios can cause fetal anemia and ultimately death. Fetal RHD genotyping was introduced in the mid-1990s after the molecular characterization of the RH genes as an aid to the clinical management of these cases. Initially, these tests used fetal DNA extracted invasively from chorionic villus and amniocyte samples. RHD genotyping of fetuses carried by RhD-negative women has become the first large-scale application of noninvasive prenatal diagnosis (NIPD). Initially the real-time polymerase chain reaction (PCR)-based tests were devised to characterize free fetal DNA in maternal plasma and serum, and RHD genotyping was a convenient assay to develop this exciting new technology, because the accuracy of tests could easily be confirmed after the simple RhD phenotyping of fetal cord blood cells after birth. "First generation" RHD genotyping tests were based on the incorrect concept that all D-negative phenotypes were caused by a complete RHD gene deletion. Thus, it was a relatively simple task to develop diagnosti...Continue Reading

Citations

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