徐州市遗传病及先天畸形流行病学调查

AN EPIDEMIOLOGICAL INVESTIGATION OF INHERITED DISEASES AND CONGENITAL MALFORMATIONS IN XUZHOU

目的了解徐州市遗传病及先天畸形分布及患病率。方法采用分层整群随机抽样的调查方法。结果共调查９８６４２人，男５０１９１人，女４８４５１人，其中遗传病及先天畸形患者１９３４例，男１０６１例，女８７３例。总患病率１９．６１‰，男、女患病率分别为２１．１４‰、１８．０２‰。徐州市区患病率最高为４３．８９‰。在各年龄组中患病率以４４～５９岁组和６０～７４组岁最高，１５～２９岁组最低，分别为３５．４６‰、３４．６５‰、１０．９８‰。近亲婚配子女患病率为群体的３．２５倍。结论本次调查显示，遗传病及先天畸形严重影响人口素质及生命质量，加强优生遗传咨询及产前诊断、禁止近亲婚配及成人常见多发遗传病的防治是降低遗传病及先天畸形患病率行之有效的措施。

Objective To estimate the distribution and incidence of inherited diseases and congenital malformations in Xuzhou city,Jiangsu province.Methods The size of sample was determined to be 96000 according to the sampling formula.The spots for investigation,numbered 53,were randomized on the bases of geographical,administrative and economiclevel concerns.All residents in each of the selected spots were investigated.Results A total of 98642 persons (50191 males and 48 451 females) were scanned.The incidence of inherited diseases and congenital malformation was 19.61‰(1934 cases) for the whole population,21.14‰(1061 cases) for the male,and 18.02‰(873 cases) for the female,significantly different between the 2 sexes.Geographycally,the highest incidence 43.89‰ was found in the urban area of Xuzhou. The incidence was relatively high in the 44-59-year and 60-74-year age groups, being 35.46‰ and 34.65‰ respectively, and relatively low in the 15-29-year age group, at 10.98‰. The incidence in the inbred offsprings was 3.25 times higher than that in the general population. Conclusion Inherited diseases and congenital malformations seriously affect the quality of Xuzhou population and their life. Education on eugenics, preventive measures against inherited diseases and prohibition of near-relative marriage should be emphasized.