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One potential noninvasive approach for antenatal diagnosis is the use of fetal cells in maternal circulation as a source of fetal DNA (1). To date, fetal DNA has been extracted from maternal nucleated blood cells and amplified by nested PCR of Y-chromosome sequences from male fetuses (2)(3).A recent study (4) demonstrated the presence of fetal DNA in maternal plasma. After a single PCR with a high number of cycles, detection of fetal DNA was possible in 24 (80%) of the 30 maternal plasma samples, using 10 μL of boiled plasma (4). When DNA extracted from a similar volume of whole blood was used, only 17% of the samples gave a Y-positive signal, suggesting an enrichment of fetal DNA in plasma compared with whole blood cells (4). The mechanism responsible for fetal DNA release in maternal circulation is unclear. It has been postulated that fetal cell lysis after physical and immunological damage, as well as developmentally regulated apoptosis of certain fetal tissues, may be responsible for this phenomenon (5). Furthermore, the release and clearance of fetal DNA from maternal plasma may be influenced by pathophysiological factors that are still to be determined.The efficacy of the single PCR protocol on maternal plasma DNA has not yet been compared to established methodologies of nested amplification of DNA prepared from intact cells. The present work compares single PCR on plasma DNA with nested PCR on DNA extracted from plasma or nucleated blood cells. We collected 27 maternal blood samples at gestational ages ranging from the 7th to the 32nd weeks (16 male- and 11 female-bearing pregnancies). Nine, 14, and 4 samples were from the first (7–12 weeks), second (14–20 weeks), and third (27–32 weeks) trimesters. Fetal gender was unknown at the time of sampling and analysis and was verified …

Evaluation of Different Approaches for Fetal DNA Analysis from Maternal Plasma and Nucleated Blood Cells