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目的用细胞遗传学方法诊断唐氏综合征(21三体综合征),为临床的优生优育提供诊断依据。方法采用18～22w孕妇羊水细胞培养,G显带技术染色体核型分析。结果 158例患者确诊为唐氏综合征,其中男性71例,女性87例,孕妇年龄≥35岁占38.5%,<35岁占61.5%。结论唐氏综合征是临床上最常见的染色体异常疾病,本文提示发病率不但与孕妇年龄有关,而且与环境因素也密切相关。大部分是由于亲代配子形成过程中同源染色体不分离所致,极少部分与父母的染色体异常有关。因此,要预防21三体征的发生,应注意孕前和孕期保健,加强产前筛查和产前诊断。
Objective To diagnose Down’s syndrome (trisomy 21) by cytogenetics and provide a diagnostic basis for clinical prenatal and postnatal care. Methods 18 ~ 22w pregnant women with amniotic fluid cell culture, G banding technology karyotype analysis. Results 158 patients were diagnosed as Down Syndrome, including 71 males and 87 females. The pregnant women aged ≥35 years accounted for 38.5% and those aged <35 accounted for 61.5%. Conclusion Down Syndrome is the most common chromosomal abnormality in clinical practice. This paper suggests that morbidity is not only related to the age of pregnant women but also closely related to environmental factors. Mostly due to the formation of parental gametophyte homologous chromosomes are not separated due to a very small part of the parental chromosomal abnormalities. Therefore, to prevent the occurrence of trisomy 21, should pay attention to pre-pregnancy and prenatal care, strengthen prenatal screening and prenatal diagnosis.