母血浆细胞游离胎儿DNA(cell-free fetal DNA,cffDNA)在无创性产前诊断中的研究取得了很大的进展,如文献报道可用于诊断性连锁遗传病、Rh血型不合、基因组印迹和某些染色体疾病等。目前的研究主要是对常见非整倍体疾病的诊断,已有多种通过cffDNA的检测对非整倍体疾病进行无创性产前诊断的方法见于报道。 Much progress has been made in the study of non-invasive prenatal diagnosis of maternal plasma cell-free fetal DNA (cffDNA), as reported in the literature for diagnostic linked genetic disease, Rh blood group incompatibility, genomic imprinting and a Some chromosomal diseases. The current research is mainly on the diagnosis of common aneuploidy diseases. There are many ways to do non-invasive prenatal diagnosis of aneuploidy through the detection of cffDNA.