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。 Our country is one of the high-incidence countries with congenital diseases in the world. Congenital diseases, which have a heavy burden on individuals, families and society, have a negative impact on the health care system and the quality of the population, and are one of the most difficult diseases in the world today. The effective control of birth defects has become an important factor in improving human health. However, at present, the research on congenital diseases in our country is not enough, especially for the high-risk groups such as Xinjiang and other remote areas and ethnic minorities, which is not good for improving the quality of the born population in these areas. Therefore, it is very necessary to study this problem in depth . This article introduces the congenital disease spectrum in Xinjiang Autonomous Region and the third division of Xinjiang Production and Construction Corps in Tumkosh city of congenital diseases profile, describes its characteristics, based on the summary and analysis of possible causes, put forward the study Deficiencies and improved methods to facilitate follow-up through large samples of epidemiological surveys in the locality to identify the risk factors leading to the occurrence of congenital diseases and targeted interventions, so as to Xinjiang, especially Tushu Shu The city of congenital diseases prenatal diagnosis and prevention and control measures to improve the theoretical basis to promote the development of local eugenics and fertility is of great significance.