Abstract

Featured Article: Lo YMD, Tein MSC, Lau TK, Haines CJ, Leung TN, Poon PMK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998;62:768–75.3 There has been a multidecade search for noninvasive methods of prenatal diagnosis. In 1997, my group reported the presence of cell-free fetal DNA in maternal plasma and serum (1), opening up exciting possibilities that this new noninvasive source of fetal genetic materials might be used for prenatal testing. Much remained unknown, however, regarding this newly discovered phenomenon. For example, it was unclear when fetal DNA first entered into the maternal circulation and whether its concentration would be sufficient for robust diagnostic assays to be developed. The 1998 report featured here represented the first attempt to address these and other issues. I decided to use the then-new real-time quantitative PCR (2) as a tool for measuring fetal and total DNA in …

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