目的:了解济源市出生缺陷发生情况,为制定降低出生缺陷有效干预措施提供依据。方法:对2004年～2010年济源市22所出生缺陷监测医院分娩的381例出生缺陷婴幼儿的资料进行分析。结果:7年出生缺陷平均发生率为6.88‰,总体呈波动上升趋势。前5位出生缺陷顺位依次为:多指(趾)畸形、总唇裂、唇裂、神经管畸形、外耳畸形。出生缺陷的发生率有以下特点:男性高于女性、城镇与乡村无明显差异,孕妇年龄<20岁、>35岁妊娠发生率高。结论:济源市出生缺陷发生率偏低,产前阳性监测率偏低,应加强以提高产前诊断水平为重点的一、二级干预措施。 OBJECTIVE: To understand the occurrence of birth defects in Jiyuan City and provide evidence for effective interventions to reduce birth defects. Methods: The data of 381 infants and toddlers with birth defects from 22 birth defects monitoring hospitals in Jiyuan City from 2004 to 2010 were analyzed. Results: The average incidence of birth defects in 7 years was 6.88 ‰, showing a general upward trend of fluctuation. The top 5 birth defects in order were: multiple finger (toe) deformity, the total cleft lip, cleft lip, neural tube defects, deformities of the outer ear. The incidence of birth defects has the following characteristics: men than women, no significant difference between urban and rural areas, pregnant women aged <20 years old,> 35 years pregnant with a high incidence. Conclusion: The incidence of birth defects in Jiyuan City is low and the positive rate of prenatal positive detection is low. Therefore, the primary and secondary interventions with emphasis on improving the prenatal diagnosis should be strengthened.