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Progress of research on non-invasive prenatal diagnosis by detecting the cell-free fetal DNA in maternal plasma

YU Qiong,DENG Zhihui.Shenzhen Blood Center,Shenzhen,Guangdong 518035,P.R.China  
Cell-free fetal DNA in maternal plasma of pregnant woman,originating from fetal and/or placental cells undergoing apoptosis,is mainly the short-sized DNA fragments of less than 313 base pairs in length because fetal DNA is cleaved selectively by nuclear endonuclease during the apoptosis process.With relatively high abundance in maternal plasma,circulating fetal DNA has now become an important source for non-invasive prenatal molecular genetic diagnosis and is widely used in fetal sex-determination,gene testing of fetal Rh(D) in the plasma of the rhesus-negative pregnant woman,fetal aneuploidy detection,fetal STR genotyping and other clinical applications.Based on the characteristics of cell-free fetal DNA concentration,purity,size distributions and the target gene,the appropriate molecular diagnosis strategy and experimental design as well as restricting the length of PCR product will help improve the accuracy of non-invasive prenatal diagnosis.The massively parallel genomic sequencing provides a new approach for non-invasive prenatal diagnosis using the cell-free fetal DNA from maternal plasma.
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