新疆地区先天性疾病研究进展

Research progress on congenital diseases in Xinjiang

我国是世界上先天性疾病的高发国家之一。先天性疾病会给个人、家庭、社会带来沉重的负担,对卫生保健系统和人口素质的提高带来负面影响,是当今世界关注的棘手病种之一。能否有效控制出生缺陷已经成为改善人类健康的重要影响因素。但目前我国对先天性疾病研究程度不足,尤其是对新疆等边远地区、少数民族等高发群体的研究尚少,这对于提高上述地区的出生人口素质是不利的,因此非常有必要深入探讨该问题。本文介绍了新疆自治区先天性疾病谱和新疆生产建设兵团第三师所在的图木舒克市的先天性疾病的概况,描述其特征性,在此基础上总结并分析其可能的原因,提出研究的不足及改进的方法,以便于后续通过在当地进行大样本的流行病学调查,找出导致先天性疾病发生的各种危险因素并进行有针对性的干预,从而为新疆尤其是图木舒克市的先天性疾病产前诊断及防控措施的完善提供理论依据,对促进当地优生优育事业的发展具有十分重要的意义。

China is one of the countries with high incidence of congenital diseases in the world. As a kind of intractable disorders,congenital diseases bring not only heavy burdens on individuals,family and society but also make negative influences to health care system as well as the improvement of population quality. It has become an important factor in improving human health whether birth defects can be controlled effectively. However,the congenital diseases researches in our country are at a low degree,particularly in Xinjiang and minority nationality,which is detrimental to improving the population quality in these areas. Consequently,it is of great necessity to explore this problem deeply. In this paper,the spectrum of congenital diseases in Xinjiang,especially the general situation in Tumxuk,were described. The characteristics,potential factors,as well as the research shortcomings of the congenital diseases were analyzed. The aim of paper was to improve the insufficient in the fields of congenital diseases researches,so as to help the authors making the sequent epidemiological survey locally with large samples. Furthermore,the risk factors contributing to the local congenital diseases were also screened for the intervention of congenital diseases. This review will help providing the theoretical basis for perfecting the prenatal diagnosis and prevention and control measures of congenital disease in Xinjiang especially in Tumxuk. Reducing the rates of congenital diseases is significant for promoting good prenatal and postnatal care locally.