Abstract

The discovery of cell-free fetal DNA (cffDNA) in maternal plasma provides a new idea for noninvasive prenatal testing(NIPT). Though some studies to date have shown several fetal DNA markers, how to accurately distinguish cffDNA from the pool of maternal plasma free DNA is still a challenge. So far, NIPT based on cffDNA has been used for detection and study of a variety of diseases, along with the advance and development of technology, it will have a more broad application prospects. This article will make a review for the research status from the biological characteristics and the markers of cffDNA, the clinical applications and the existing issues and development prospects of NIPT based on cffDNA.(Chin J Lab Med, 2015, 38: 307-310) Key words: DNA; Prenatal Diagnosis; Genetic Diseases, Inborn; Biological Markers

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