Non-invasive prenatal testing (NIPT) for fetal aneuploidy detection is increasingly being offered in the clinical setting. Whereas the majority of tests only report fetal trisomies 21, 18 and 13, genome-wide analyses have the potential to detect other fetal, as well as maternal, aneuploidies. In this review, we discuss the technical and clinical advantages and challenges associated with genome-wide cell-free fetal DNA profiling.
Keywords: cell-free DNA, (cfDNA); cell-free fetal DNA, (cffDNA); copy number variation, (CNV); genome sequencing; mosaicism; non-invasive prenatal testing, (NIPT); prenatal diagnosis.
© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.