1. Hahn S, Holzgreve W. Prenatal diagnosis using fetal cells and cell-free fetal DNA in maternal blood: what is currently feasible? Clin Obstet Gynecol 2002;45:649–56. 2. Chiu RW, Lo YM. The biology and diagnostic applications of fetal DNA and RNA in maternal plasma. Curr Top Dev Biol 2004;61:81–111. 3. Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal ...

Researchers and clinicians are increasingly interested in using Next Generation Sequencing (NGS) analysis of cell-free DNA (cfDNA) found in plasma (the cell-free fraction of anticoagulated blood) for biomarker discovery and diagnostic applications. Two areas of specific interest are non-invasive prenatal diagnostics (1-6) and monitoring efficacy of treatment in cancer patients (7-20). Many rece...

variations in detection sensitivity and quantification of fetal DNA concentrations were noted among laboratories very familiar with real-time PCR technology (21). Further studies will be needed to clarify this issue in addition to the continued exploration of other strategies for the investigation of complex fetal genetic traits by analysis of maternal plasma. These strategies may include the e...

BACKGROUND Quantification of cell-free fetal DNA by methylation-based DNA discrimination has been used in non-invasive prenatal testing of fetal chromosomal aneuploidy. The maspin (Serpin peptidase inhibitor, clade B (ovalbumin), member 5; SERPINB5) gene, located on chromosome 18q21.33, is hypomethylated in the placenta and completely methylated in maternal blood cells. The objective of this st...

BACKGROUND Cell-free fetal nucleic acid, believed to be derived from the placenta/trophoblast, is present in the plasma of pregnant women; however, its use for predictive genetic testing has been severely limited because the circulating fetal DNA is present in a small quantity and mixed with a much larger quantity of maternal DNA. Methods for detecting fetal aneuploidy from the cell-free fetal ...

BACKGROUND Genomic DNA sequences in cell-free plasma are biomarkers of cancer prognosis, where characteristic changes in methylation of tumour suppressor or oncogene DNA regions are indicative of changes in gene activity. Also, cell-free fetal DNA can be distinguished, by its methylation status, from the maternal DNA in the plasma of pregnant women, hence providing DNA biomarkers for the propos...