目的 了解新生儿出生缺陷发生情况及相关危险因素。方法 回顾性分析2008年1月至2014年6月出生缺陷新生儿的资料。结果 研究期间共出生新生儿73 498例，其中出生缺陷新生儿777例，发生率10.6%。出生缺陷前五位依次为先天性心脏病、多指（趾）/ 并指（趾）、尿道下裂、唇腭裂、外耳畸形。与无出生缺陷儿相比，出生缺陷儿中男婴、早产儿、低出生体质量、双胎及多胎、常住人口比例高，差异有统计学意义（P均<0.05）。影响出生缺陷的主要危险因素为服药史、孕妇自然流产史、妊娠期糖尿病和家族史。结论 婚前、孕产期保健，减少早产、双胎及多胎、低出生体质量的发生，提高产前诊断技术水平，做好出生缺陷监测可减少出生缺陷的发生。

Objective To understand the occurrence and the related risk factors of birth defects. Methods Descriptive analysis was conducted on birth detect surveillance in the infants during January 2008 to June 2014. Results A total of 777 cases of birth defect were detected in 73498 infants, and the incidence of birth defect was 1.06%. The 5 most common birth defects were congenital heart disease, multi finger (toe), hypospadias, cleft lip, and palate and deformity of external ear. Compared infants born with no birth defects, male, preterm, low birth weight, twin and multiple births and resident were statistically higher in infants with birth defects (P<0.05). The major risk factors of birth defects were the medication history, spontaneous abortion, gestational diabetes mellitus, and family history. Conclusions The incidence of birth defect can be reduced by providing good health care during pre-marriage and pregnant so as to decrease the occurrence of premature infants, twins and multiple births, and low birth weight as well as improving prenatal diagnosis and intensifying birth defects surveillance.