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唐氏综合征是最常见的染色体非整倍体遗传病,该病尚无有效治疗手段,出生干预是预防该病的有效措施。传统的产前筛查与产前诊断均具有一定的缺陷,无创产前诊断是未来发展的趋势。本文从母血胎儿细胞、母血胎儿游离DNA、母血胎儿游离RNA三个角度对目前唐氏综合征的无创产前诊断研究作一综述,以期对相关领域的研究发展有所帮助。
Down Syndrome is the most common chromosomal aneuploidy genetic disease, there is no effective treatment for this disease, birth intervention is an effective measure to prevent the disease. Traditional prenatal screening and prenatal diagnosis have certain shortcomings, noninvasive prenatal diagnosis is the future trend of development. This review summarizes the current noninvasive prenatal diagnosis of Down’s syndrome from three aspects: maternal and fetal blood cells, maternal and fetal fetal free DNA, maternal and fetal free RNA, in the hope of contributing to the research and development in related fields.