Down's syndrome (DS), one of the autosomal diseases, is one of the most common genetic type of congenital mental retardation. It occupies for 10％-15％ in the children suffering from mental retardation. This disease severely results in birth defects, which affects the mental and physical development and leads to disability or death. There is no effective therapy method in clinic yet. Therefore, it is very important for aristogenesis in prenatal screening and diagnosis for the high-risk patients and termination of pregnancy of women pregnant with DS. The latest research on prenatal screening of DS was reviewed in this paper.%唐氏综合征(Down's syndrome,DS)是一种最常见的常染色体遗传病之一,是先天性智力低下最常见的遗传类型.10%～15%的智力低下儿童罹患该病.该疾病影响个体智能发育和体格发育,是致残和致死的严重出生缺陷,至今尚无有效的治疗方法.因此,对该疾病进行产前筛查,再对受检者中高风险者进行产前诊断,让妊娠DS患儿的孕妇终止妊娠,才能达到优生目的.本文就DS产前筛查的最新研究进展作一综述.
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