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唐氏综合症为临床常见染色体病,发病机制在于患者存在一个额外的21号染色体,因此又被称之为21-三体综合征。近几年来,随着平均生育年龄的不断增加,唐氏综合症发病几率呈现上升趋势,因唐氏患儿智力低下、生活难以自理,无疑对家庭与社会带来沉重的负担。产前筛查与诊断是当前预防唐氏综合征的有效手段,通过对孕妇AFP、Free-h CGβ等指标进行测定,有助于确定高危人群,后依据绒毛取样术、羊膜腔穿刺术、无创DNA检测基因等诊断技术,以提高产前诊断率。
Down’s syndrome is a common clinical chromosomal disease, the pathogenesis is that patients have an extra chromosome 21, it is also known as trisomy 21. In recent years, with the increasing average age of childbearing, the incidence of Down Syndrome shows an upward trend. Due to the mental retardation of Down’s children, life is difficult to take care of themselves, undoubtedly brings a heavy burden on families and the society. Prenatal screening and diagnosis of Down’s syndrome is an effective way to prevent Down’s syndrome by AFP, Free-h CGβ and other indicators for determination of high-risk groups to help identify, after villus sampling, amniocentesis, non-invasive DNA testing genes and other diagnostic techniques to increase the rate of prenatal diagnosis.