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检测孕妇外周血中胎儿游离DNA，为无创产前诊断及妊娠相关性疾病的防治找到了新途径，此种技术具有诸多优势。孕妇外周血中胎儿游离DNA测序可用于胎儿非整倍体疾病、胎儿单基因遗传病、胎儿血型的检测、胎儿性连锁疾病的产前诊断筛查；胎儿游离 DNA 水平的变化可作为一种新的生物指标为妊娠相关性疾病的诊断及治疗提供帮助。随着分子生物学技术的不断发展，对孕妇外周血中胎儿游离DNA的研究将更加深入。“,”The detection of fetal cell-free DNA in maternal peripheral blood has opened up a new avenue of research for noninvasive prenatal diagnosis,prevention and treatment of pregnancy-related diseases,which has many advantages.The sequencing of fetal cell-free DNA in maternal peripheral blood can be used as pre-natal disgnosis for fetal aneuploidy diseases and fetal monogenic hereditary diseases , the detection of fetal blood type and prenatal screening and diagnosis of sex-linked disorders.The changes of fetal cell-free DNA level can be used as a new index of clinical diagnosis and treatment on pregnancy related diseases.With the development of molecular biology,the study of fetal cell-free DNA will be deeper.