Differential DNA Methylation between Fetus and Mother as a Strategy for Detecting Fetal DNA in Maternal Plasma

摘要: Background: Fetal DNA has been detected in maternal plasma by the use of genetic differences between mother and fetus. We explore possibility using epigenetic markers for specific detection fetal plasma. Methods: A differentially methylated region human IGF2 - H19 locus a single-nucleotide polymorphism this were chosen study. The methylation status is maintained such way that paternal allele unmethylated. was typed direct sequencing PCR products. ascertained bisulfite conversion methylation-specific PCR. Differentially alleles primer-extension assay. Results: Women second (n = 21; 17–21 weeks) third 18; 37–42 trimesters pregnancy recruited. Among these 39 volunteers, 16 who heterozygous further analysis. In 11 cases, paternally inherited different from respective mothers. Using sequencing, we 6 (55%) cases. 8 fetuses possessed an unmethylated maternally mother. assay, fetal-derived four eight (50%) cases. Conclusions: These results represent first noninvasive prenatal data may also have implications investigation other types chimerism.