Non-invasive fetal platelet and red cell blood group genotyping with the use of targeted massively parallel sequencing of maternal plasma cell-free DNA

In pregnant women with a history feto-maternal incompatibility (fetal and neonatal alloimmune thrombocytopenia (FNAIT) or hemolytic disease of the newborn (HDN)), fetal human platelet antigen (HPA) or blood group genotyping is required to determine whether the fetus is at risk and whether prenatal interventions are required. Published methods for non-invasive genotyping of fetal blood groups using maternal plasma cell-free DNA do not provide internal controls for exclusion of false-negative results. Cell-free DNA was isolated from plasma of 3 RhD-negative pregnant women and 6 pregnant women with a history of FNA…