重庆地区5062例出生缺陷病例分析与防控探讨

Case analysis and prevention investigate in 5064 cases of birth defects

目的通过了解和掌握重庆所属区县病残儿鉴定的出生缺陷与遗传现状、类型、位序、病因情况,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。结果共鉴定病残儿18 245例,经鉴定明确出生缺陷86种5062例,其发生率为27.74%,含单基因病54种1295例,占总发生率的25.58%;其中常染色体显性遗传病23种527例;其发生率为10.41;占所有鉴定数的2.89%;常染色体隐性遗传病23种452例,其发生率8.93%,占所有鉴定数的2.48%。X-连锁显性遗传病3种147例,其发生率为2.90%;占所有鉴定数的0.81%。X-连锁隐性遗传病5种169例,其发生率为3.33%,占所有鉴定数的0.93%。多基因遗传病26种3461例,其发生率为68.35%,占所有鉴定数的18.97%。染色体遗传病6种306例,其发生率为6.04%,占所有鉴定数的1.68%。结论重庆所属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,产前筛查和诊断的防控措施,预防和降低出生缺陷率。

Objective：By understanding and master Chongqing subordinate counties appraisal of disabled child identification′s status quo with genetic birth defects,type,rank,etiology cases,to provided the scientific basis for pregnancy eugenics,genetic counseling and prevent and reduce the risk of birth defects again. Methods：Made the medical auxiliary and laboratory examinations for the object of study,and collected the identification of birth defects in diagnosis. Results：Identified 18 245 disabled children cases. Made definitive diagnosis of birth defects were 5062 cases about 86 kinds of birth defects whose rate was 27.74%,including 54 kinds of single-gene disease 1295 cases,accounting for 25.58% incidence;among 23 kinds of autosomal dominant genetic disease 527 cases whose rate was 10.41%;autosomal genetic disease invisible body color 23 kinds of 452 cases whose rate was 8.93%;X- linked dominant genetic disease three kinds of 147 cases whose rate was 2.90%;X-chain 5 kinds of recessive genetic disease 169 cases whose rate was 3.33%;26 kinds of polygenic disease 3461 cases,68.35% of its incidence;chromosomal genetic disease 6 kinds of 306 cases,accounting for 6.04% incidence. Conclusions：Because of the birth defects involving more diseases in Chongqing subordinate counties,we should actively carry out pre-pregnancy health education,strengthen the pre-pregnancy examination,genetic counseling,prenatal screening and diagnosis of prevention and control measures to prevent and reduce the incidence of birth defects.