Since the discovery of cell-free fetal DNA (cffDNA) in peripheral maternal blood a decade ago, advances have been made in the identification and clinical application of these segments. Most studies of cffDNA have focused on using the segments for sex determination and fetal Rh genotyping, employing differences in genomic DNA between mother and fetus. Research has shifted toward targeting cffDNA for noninvasive aneuploidy detection. Over the last decade, a tremendous volume of research has focused on advancing the understanding of cffDNA structure, function, and detection. Despite this growing body of evidence, gaps in understanding of the biology of cffDNA and challenges in its isolation, enrichment, and processing have limited clinical applications in noninvasive prenatal diagnosis.

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