Noninvasive fetal genotyping of paternally inherited alleles

Abstract

The results presented in this thesis indicate that cell-free fetal DNA is a reliably analyte for prenatal genetic diagnosis in everyday clinical practice. Already, invasive procedures solely to determine the fetal sex or red cell antigen status belong to the past. Large-scale nation-wide prenatal screening programmes for the prediction of the fetal Rh D blood group phenotype using cell-free fetal DNA are in place. Yet, the full diagnostic potential of cell-free fetal DNA in maternal plasma remains to be realised. Current advances in single molecule counting techniques allow for the detection and identification of DNA sequences beyond those that are paternally inherited, bringing noninvasive diagnosis and screening for a variety of genetic conditions, including chromosomal aneuploidies, to clinical use in the near future.