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Evaluation of bidirectional transfer of plasma DNA through placenta

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To clarify the origin of cell-free fetal DNA in maternal plasma, we analyzed bidirectional transfer of plasma DNA between fetus and mother. We analyzed maternal and fetal plasma DNA obtained from 15 pregnant women at the time of Cesarean section. The subjects were five patients with preeclampsia and 10 gestational-age-matched normal controls. DNA was extracted from 1.5-ml plasma samples and the cellular fraction of maternal and umbilical blood. Seven polymorphic marker genes were analyzed. The relative concentration of fetal DNA in maternal plasma and maternal DNA in cord blood were evaluated. The relative concentration of maternal DNA in fetal circulation (median, 0.9%; range, 0.2–8.4%) was significantly lower than that of fetal DNA in maternal blood (14.3%, 2.3–64%), with P=0.007. The relative concentration of maternal DNA in fetal blood was not affected by preeclampsia. These findings indicate that cell-free DNA is unequally transferred through the placenta. The structural characteristics of the placenta suggest that the majority of cell-free fetal DNA in maternal plasma is derived from villous trophoblasts.

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This work was supported in part by Grants-in-Aid for Scientific Research from the Ministry of Education, Science, Sport and Culture of Japan (nos. 14770870 and 13770940).

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Correspondence to Akihiko Sekizawa.

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Sekizawa, A., Yokokawa, K., Sugito, Y. et al. Evaluation of bidirectional transfer of plasma DNA through placenta. Hum Genet 113, 307–310 (2003).

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