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唐氏综合征(Down’s syndrome,DS)又称21-三体综合征,是人类最常见的染色体疾病,目前均无有效的治疗方法。对唐氏综合征最有效办法是早发现和及时终止妊娠,也是实施优生优育的重要措施。本文介绍了DS的相关因素,就孕妇血清指标、超声软指标、尿样指标以及遗传学、分子学、无创性产前检测技术在唐氏综合征筛查、诊断方面的研究进展作一综述。
Down’s syndrome (DS), also known as 21-trisomy syndrome, is the most common chromosomal disorder in humans. There is currently no effective treatment. The most effective method for Down Syndrome is early detection and timely termination of pregnancy, but also an important measure to implement prenatal and postnatal care. This article introduces the related factors of DS, and reviews the research progress in the screening and diagnosis of Down’s syndrome in serum markers, ultrasound soft indexes, urine samples, as well as genetics, molecular and noninvasive prenatal detection of pregnant women.