Objective:To investigate the distribution of congenital heart disease (CHD)in children aged 0~14 years in Yili state. With the exploration possible environmental and genetic risk factors relevant to the occurrence of CHD. This study provided scientific guidelines for the prevention of CHD. Methods:In this population-based 2∶1 matched case-control study,442 children from eight counties and one city in Yili state were diagnosed as CHD,and 884 children from same districts were sampled randomly as the control group. Observation,heart auscultation and echocardiography examination were performed in the children. Single-factor analysis and multi-factors Logistic regression analysis were applied to analyze the risk factors of CHD. Results:Based on the single-factor analysis and multi-conditional Logistic regression model,eight risk factors related with the incidence of CHD were figured out. Conclusion:The early stage of pregnancy is the critical period for fetal cardiac development. Environmental and genetic factors played important roles in the occurrence of CHD. The etiologic research had great significance for diminishing the prevalence of CHD. Avoiding the exposure of environmental risk factors and strengthening pregnant care were beneficial to reduce the development of CHD.