目的了解浙江省舟山市定海区出生缺陷的发病情况,探讨海岛地区出生缺陷发生的影响因素。方法对2004-2007年舟山市定海区出生缺陷监测资料和围产保健监测资料进行分析。结果 2004-2007年,舟山市定海区总计监测围产儿9236人,其中出生缺陷患儿133例,平均年出生缺陷发病率为144.00/万,呈逐年上升趋势。出生缺陷发病率最高的前5位依次是先天性心脏病、外耳其他畸形、多指(趾)畸形、唇裂有/无腭裂、先天性脑积水。对单因素回归分析结果中有统计学意义的变量,包括孕妇文化程度、痛经史、尿蛋白、梅毒试验、丈夫文化程度、职业、吸烟,进行多因素回归分析,其中尿蛋白、痛经、丈夫文化程度和丈夫吸烟被纳入最后的模型中。相对于丈夫具有初中及以下文化程度的孕妇,丈夫具有大学及以上学历的孕妇生产有出生缺陷患儿的风险显著增加[OR值(95%CI)=1.85(1.17～2.91),P=0.008];与丈夫不吸烟的孕妇相比,丈夫吸烟的孕妇生产有出生缺陷患儿的风险性增高[OR值(95%CI)=1.70(1.09～2.67),P=0.020]。其他因素与出生缺陷没有显著的相关性。结论非农职业、丈夫吸烟和梅毒试验阳性是出生缺陷的危险因素,应当加强优生优育知识的宣传教育,倡导健康的生活方式,减少职业暴露,加强对高危人群的筛查,降低出生缺陷率。 Objective To investigate the incidence of birth defects in Dinghai District, Zhoushan City, Zhejiang Province, and to explore the influencing factors of birth defects in island areas. Methods The data of birth defects monitoring and perinatal health monitoring data in Dinghai District of Zhoushan City from 2004 to 2007 were analyzed. Results From 2004 to 2007, a total of 9236 perinatal children were monitored in Dinghai District of Zhoushan City. Among them, 133 were children with birth defects. The average annual incidence of birth defects was 144.00 / million, showing an upward trend year by year. The highest incidence of birth defects in the top 5 followed by congenital heart disease, other malformations of the outer ear, multiple finger (toe) deformity, cleft lip with / without cleft palate, congenital hydrocephalus. There were statistically significant variables in the results of univariate regression analysis, including the degree of pregnant women, history of dysmenorrhea, urinary protein, syphilis test, husband’s education level, occupation, smoking, and multivariate regression analysis. Urine protein, dysmenorrhea, husband culture Degree and husband smoking are incorporated into the final model. The risk of developing birth defects in pregnant women who had a college education or higher was significantly higher than that of their pregnant counterparts who had a junior high school education and below (OR = 95% CI = 1.85 (1.17-2.91), P = 0.008] (95% CI) = 1.70 (1.09-2.67), P = 0.020], compared with pregnant women whose husbands were not smokers, while pregnant women smoked by husbands were at increased risk of developing birth defects. Other factors are not significantly related to birth defects. Conclusion Non-agricultural occupations, husband smoking and syphilis test positive are risk factors of birth defects. Publicity and education of prenatal and postnatal care knowledge should be strengthened to promote healthy lifestyles, reduce occupational exposure, strengthen screening of high-risk groups and reduce the birth defect rate.