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目的探讨产前筛查及诊断对于检出唐氏综合征及其它染色体异常的意义。方法对孕中期妇女进行唐氏综合征筛查,对高危孕妇抽取羊水进行细胞培养及染色体核型分析。结果2375例接受羊膜腔穿刺术进行产前诊断的孕妇中,检出21-三体20例、18-三体12例,其它染色体异常核型47例。结论产前筛查及诊断不仅可以检出所筛查的目标染色体病,还可以检出其它染色体异常,是预防和降低唐氏综合征及其它染色体病患儿的出生,降低出生缺陷的有力手段。
Objective To investigate the significance of prenatal screening and diagnosis in detection of Down Syndrome and other chromosomal abnormalities. Methods Pregnant women with Down’s syndrome were screened for Down’s syndrome. Amniotic fluid was drawn from high-risk pregnant women for cell culture and karyotype analysis. Results Among 2375 pregnant women receiving amniocentesis for prenatal diagnosis, 20 cases of 21-trisomy, 12 cases of 18-trisomy, and 47 cases of other karyotype abnormalities were detected. Conclusion Prenatal screening and diagnosis not only can detect the target chromosome disease, but also can detect other chromosomal abnormalities. It is a powerful means to prevent and reduce the birth and reduce the birth defects in children with Down Syndrome and other chromosomal diseases .