Down氏综合征是小儿染色体病中最常见的一种,属常染色体数目畸变,活婴中发生率约1/600,至今无有效的治疗方法。减少唐氏综合征的危害最根本的办法就是通过产前筛查与诊断,避免患儿出生,因此,寻找并建立早期、快速、准确和无创性产前诊断Down氏综合征的方法,是亟待解决的关键问题,本文对Down氏综合征的无创性产前诊断作一综述。 Down’s syndrome is the most common type of chromosomal disease in children, is the number of autosomal aberrations, the incidence of live births is about 1/600, so far no effective treatment. To reduce the risk of Down’s syndrome is the most fundamental way to prevent prenatal screening and diagnosis of children born, therefore, to find and establish early, rapid, accurate and non-invasive prenatal diagnosis of Down’s syndrome is an urgent need To solve the key issues, this article reviews Down’s syndrome noninvasive prenatal diagnosis.