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目的了解掌握重庆市所属三峡库区病残儿中的非遗传性和遗传性疾病种类、区域分布,为孕前优生、遗传咨询、降低出生缺陷再发风险提供科学依据。方法以重庆市病残儿医学鉴定为技术平台,收集、整理、以及信息资源收集,分析三峡库区所属区县5462例病残儿医学鉴定中所含的非遗传性和遗传性疾病病种、病因、区域分布、序位。结果非遗传性疾病221种3558例为65.14%,遗传性疾病67种1879例为34.40%,未见明显异常25例为0.46%。结论非遗传性和遗传性疾病涉及病种多,病因复杂、分布广,应积极开展孕前优生和遗传咨询服务。
Objective To understand the types and distribution of non-hereditary and genetic diseases in disabled children in the Three Gorges Reservoir area in Chongqing, and to provide scientific evidence for prenatal eugenics and genetic counseling and to reduce the risk of recurrence of birth defects. Methods A total of 5462 cases of sick and disabled children in districts and counties of the Three Gorges Reservoir Area were collected and analyzed for the identification of the sick and disabled children in Chongqing as a technical platform for the collection and collation of information on non-hereditary and genetic diseases. Etiology, regional distribution, order. Results 221 cases of 3558 cases of non-genetic diseases were 65.14%, 67 cases of genetic diseases in 1879 cases were 34.40%, 25 cases were no significant abnormality was 0.46%. Conclusion Non-hereditary and hereditary diseases involve many diseases, complicated etiologies and wide distribution. Pre-pregnancy eugenics and genetic counseling services should be actively carried out.