目的:通过了解和掌握重庆所属三峡库区区县的出生缺陷与遗传现状、类型、病因和区域分布情况,为孕前优生、遗传咨询、预防和降低出生缺陷再发风险提供科学依据。方法:研究对象进行现场体检,辅助检查;集体对出生缺陷进行鉴定确诊。结果:共鉴定5462例,明确诊断出生缺陷75种1386例,其发生率为25.38%。含单基因病38种378例,占总发生率的27.27%;其中常染色体显性遗传病18种146例,占总发生率的10.53%;常染色体隐性遗传病14种130例,占总发生率的9.38%;X-连锁显性遗传病3种44例,占总发生率的3.17%;X-连锁隐性遗传病3种58例,占总发生率的4.18%。多基因遗传病20种856例,占总发生率的61.76%。染色体遗传病4种87例,占总发生率的6.28%。其他出生缺陷65例,占总发生率的4.69%。结论:三峡库区区县的出生缺陷涉及病种多,应积极开展孕前优生健康教育、遗传咨询,加强孕前检查、产前筛查和诊断,预防和降低出生缺陷率。 OBJECTIVE: To provide a scientific basis for understanding and mastering the birth defects, genetic status, types, etiology and regional distribution in districts and counties belonging to the Three Gorges Reservoir Area in Chongqing and provide scientific basis for prenatal eugenics, genetic counseling, prevention and reduction of the risk of recurrence of birth defects. Methods: The subjects were on-the-spot medical examination, auxiliary examination; collective identification of birth defects diagnosed. Results: A total of 5462 cases were identified. A total of 1386 cases of 75 kinds of birth defects were diagnosed. The incidence was 25.38%. There were 388 species of 378 cases with single gene disease, accounting for 27.27% of the total. Among them, 146 cases were etiologic genetic diseases, accounting for 10.53% of the total. Among them, 14 cases of autosomal recessive disease were 130 Incidence of 9.38%; X-linked dominant genetic disease in 44 of 44 cases, accounting for 3.17% of the total; X-linked recessive genetic disease in 58 cases, accounting for 4.18% of the total incidence. 20 kinds of polygenic disease 856 cases, accounting for 61.76% of the total. There are 4 kinds of chromosomal genetic diseases in 87 cases, accounting for 6.28% of the total. 65 other birth defects, accounting for 4.69% of the total. Conclusion: The birth defects of districts and counties in the Three Gorges Reservoir Area involve many diseases. Health education and genetic counseling should be actively carried out before birth. Prenatal screening, prenatal screening and diagnosis should be strengthened to prevent and reduce the birth defect rate.