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唐氏综合征(Down syndrome,DS)又称21三体综合征或先天愚型,是由于21号染色体数目异常引起的常染色体病,属新发突变,而不是基因遗传病,新生儿发病率为1/700～1/800。临床表现为智力低下、精神体格发育迟滞,并伴有其他严重的先天缺陷,目前对此病尚无有效的治疗手段。因此在孕期能及早、准确地诊断是防止患儿出生的关键。本文就DS的产前筛查及诊断现状作一综述。
Down syndrome (DS), also known as trisomy 21 or Down’s syndrome, is an autosomal disease caused by an abnormal number of chromosomes 21, which is a novel mutation, not a genetic disease. The incidence of neonatal morbidity For 1/700 ~ 1/800. Clinical manifestations of mental retardation, mental retardation, and accompanied by other serious birth defects, there is currently no effective treatment for this disease. Therefore, early in pregnancy, accurate diagnosis is the key to preventing the birth of children. This article reviews the status of prenatal screening and diagnosis of DS.