Fetal RHD genotyping by analysis of maternal plasma in a mixed population

Abstract

Our findings indicate that the accuracy of RHD gene using three regions (exons 4, 5, and 10) can be sufficient for clinical application in a multi-ethnic population. This knowledge helped us on the development of a feasible protocol for fetal RHD genotyping on DNA from maternal plasma for our population.

Clinical application of midtrimester non‐invasive fetal RHD genotyping and identification of RHD variants in a mixed‐ethnic population

“…There is no consensus about the RHD exons to be tested in fetal genotyping, with exons 4, 5, 7 and 10 the most widely used by different groups. RHD sequences selection is crucial to discriminate common RHD variants in multi‐ethnic populations and to avoid false positive and negative results . In our series, we screened all samples using exons 5 and 7, confirming negative results with exon 10 and extending the study to exon 6 only in selected cases.…”

The controversy about controls for fetal blood group genotyping by cell-free fetal DNA in maternal plasma

“…as a multiplex within the same reaction [12,16,17,23,24 ]. In pregnancies with female fetuses, detection of paternally inherited polymorphisms not present in the maternal genome can be used to confirm the presence of fetal DNA.…”

Vox Sanguinis International Forum on application of fetal blood grouping

“…As internal control we use primer/probe set to CCR5. Each sample is analyzed in three replicates for each RHD exon and in two replicates for CCR5 .…”