唐氏综合征是最常见的染色体非整倍体遗传病,出生干预是预防该病的有效措施。传统的产前诊断具有创伤等缺陷,无创产前诊断是未来发展的需求。孕妇血胎儿细胞、胎儿游离DNA、胎儿游离RNA及胎儿游离microRNA的分析是新近发展的4种唐氏综合征无创产前诊断技术。母血胎儿游离miRNA有足够的稳定性、特异性和准确性,是最具临床应用价值的生物标志物。 Down’s syndrome is the most common aneuploidy genetic disease, birth intervention is an effective measure to prevent the disease. Traditional prenatal diagnosis of trauma and other defects, non-invasive prenatal diagnosis is the future development needs. Analysis of maternal blood fetal cells, fetal free DNA, fetal free RNA and fetal free microRNA is a newly developed 4 non-invasive prenatal diagnosis of Down’s syndrome. Fetal blood fetal miRNAs with sufficient stability, specificity and accuracy, is the most clinical biomarker of clinical value.