目的:通过回顾性分析无锡市围产儿出生缺陷的发生情况,探讨其影响因素,为开展出生缺陷的预防与早期诊断提供依据。方法:收集2007~2011年无锡市围产儿出生缺陷监测资料,对出生缺陷监测结果进行分析。结果:2007~2011年围产儿出生缺陷平均发生率为5.79‰,呈逐年下降趋势。出生缺陷按系统分前5位依次为肢体畸形、唇腭裂、先天性心脏病、耳部畸形、泌尿系统畸形,占总缺陷的72.81%。按出生缺陷23病种分类,前5位为先天性心脏病、多指(趾)、唇合并腭裂、唇裂、并指(趾),占总缺陷的54.37%。出生缺陷的发生在城乡间、本地与外地、男女性别、胎产次有统计学差异,城市高于农村,本地高于外地,男性高于女性,第一产次高于第二产次及以上。结论:无锡市2007~2011年围产儿出生缺陷呈逐年下降趋势,但仍需进一步加强出生缺陷监测,提高产前筛查与产前诊断水平,降低围产儿出生缺陷发生率。 OBJECTIVE: To investigate the incidence of birth defects in perinatal infants in Wuxi City by retrospectively analyzing the influencing factors and providing the basis for the prevention and early diagnosis of birth defects. Methods: The monitoring data of birth defects in perinatal infants in Wuxi from 2007 to 2011 were collected, and the monitoring results of birth defects were analyzed. Results: The average incidence of birth defects from 2007 to 2011 was 5.79 ‰, showing a declining trend year by year. According to the system, the top five birth defects were limb deformity, cleft lip and palate, congenital heart disease, ear deformity and urinary system malformation, accounting for 72.81% of the total defects. According to the classification of 23 birth defects, the top 5 were congenital heart disease, multiple fingers (toes), cleft lips with cleft palate, cleft lip, and fingers (toes), accounting for 54.37% of the total defects. The incidence of birth defects in urban and rural areas, local and foreign, male and female gender, fetal birth times were statistically different, the city is higher than in rural areas, local higher than the field, men than women, the first parity is higher than the second parity and above . Conclusion: The birth defects in perinatal children in Wuxi from 2007 to 2011 show a declining trend year by year. However, it is still necessary to further strengthen the monitoring of birth defects, raise the level of prenatal screening and prenatal diagnosis, and reduce the incidence of perinatal birth defects.