三峡库区1386例出生缺陷鉴定结果分析

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。

Analysis on the results of birth defects identification in 1 386 cases in Three Gorges Reservoir Area

Objective:To provide a scientific basis for pregestational eugenics,genetic counseling,prevention,and reducing the recurrent risk of birth defects by understanding and grasping the current situations of birth defects and genetics,types,pathogenesis,and areal distribution in Three Gorges Reservoir area.Methods:The research objects received physical examination on the spot,assistant examination was performed;birth defects of the cases were identified and diagnosed definitely.Results:A total of 5 462 cases were identified,75 kinds of birth defects were diagnosed definitely in 1 386 cases,the incidence of birth defects was 25.38%.Among the cases with birth defects,378 cases were found with monogenic inheritable diseases(38 kinds),accounting for 27.27%;146 cases were found with autosomal dominant inheritable diseases(18 kinds),accounting for 10.53%;130 cases were found with autosomal recessive dominant inheritable diseases(14 kinds),accounting for 9.38%;44 cases were found with X-linked dominant inheritable diseases(3 kinds),accounting for 3.17%;58 cases were found with X-linked recessive inheritable diseases(3 kinds),accounting for 4.18%.A total of 20 kinds of polygenic inheritable diseases were diagnosed in 856 cases,accounting for 61.76% of the total incidence.A total of 87 cases were found with chromosomal inheritance diseases(4 kinds),accounting for 6.28% of the total incidence.A total of 65 cases with other birth defects were found,accounting for 4.69% of the total incidence.Conclusion:Many types of diseases were involved into birth defects in Three Gorges Reservoir Area;in order to prevent birth defects and reduce the incidences of birth defects,pregestational eugenics and health education,genetic counseling should be carried out actively,pregestational examination,prenatal screening and diagnosis should be strengthened.