Noninvasive prenatal diagnosis of Hb Bart's hydrops fetus using cell-free fetal DNA in maternal plasma / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore a new noninvasive method for Hb Bart' s hydrops fetus by using PCR amplification efficiency discrimination between cell-free fetal DNA (cffDNA) and cell-free maternal DNA in maternal plasma.</p><p><b>METHODS</b>CffDNA samples from pregnant women bearing possible Hb Bart's hydrops fetus were collected. Fluorescent PCR and capillary electrophoresis (CE) were performed. Hb Bart's hydrops fetus was conclusively identified by different peak area ratio of products.</p><p><b>RESULTS</b>The peak area ratio of 30 cffDNA samples from Hb Bart' s hydrops fetus was much less than 1. However, the ratio of cffDNA sample from hydrops fetus due to other reasons was approximately equal to 1.</p><p><b>CONCLUSION</b>By using cffDNA fluorescent PCR and CE, a prenatal screening method for Hb Bart' s hydrops fetus was developed.</p>

Detection of Fetal Sex Determining Region of Y Chromosome Gene Using Small Molecular Circulatory Cell-Free Fetal DNA in Maternal Plasma / 实用儿科临床杂志

Objective To evaluate the feasibility of cell free fetal DNA(cffDNA)-based noninvasive prenatal diagnosis,we developed a precise technique for fetal sex determining region of Y chromosome(SRY)gene detection using size-fractionated cell-free DNA in maternal plasma.Methods Peripheral blood samples were collected form 117 pregnant women.cffDNA was extracted based on a column absorbent method and isolated by agarose gel electrophoresis.A dulex-polymerase chain reaction(PCR)was used to detected SRY gene and glycerol-dehyde-phosphate dehydrogenase(GAPDH)gene.Results Both SRY and GAPDH gene were detected in 86 cffDNA samples from women bearing male fetuses.And only GAPDH gene was detected in 71 cffDNA samples from women bearing female fetuses.These results had a coincidence whit those of villus or amniotic fluid samples.The specificity and sensitivity reached 100%(117/117)and 100%(66/66),respectively.Conclusion By agarose gel electrophoresis,re-extratedand and dulex PCR,size-fractionated cell-free fetal DNA in maternal plasma can be selective enriched and used to noninvasive prenatal diagnosis of sex-linked disorders and single gene disorders.