目的了解北京市朝阳区围产儿出生缺陷发生状况及其相关影响因素,为制定有效的干预对策,降低出生缺陷发生率,为提高出生人口素质提供可靠依据。方法对驻区26家助产机构分娩的孕满28周至产后7 d内的106 370例围产儿进行出生缺陷及相关因素监测分析。结果 2013年7月-2015年6月共检出围产儿出生缺陷2 431例,检出率为22.85‰,各季度间差异有统计学意义(P<0.05)。男婴出生缺陷率明显高于女婴(P<0.05)。母亲年龄<20岁组出生缺陷率明显高于其他年龄组,其次为≥35岁年龄组。前5位出生缺陷类型分别为外耳其他畸形、先天性心脏病、多指(趾)、隐睾、尿道下裂。2013年7月-2015年6月出现围产儿死亡318例,其中出生缺陷死亡占31.13%,而致死性出生缺陷占出生缺陷死亡的57.58%。结论朝阳区出生缺陷发生率高于全国平均水平;出生缺陷的发生与孕母年龄、围产儿性别、孕期患病情况有关;应加强产前筛查及产前诊断工作,提高出生缺陷产前检出率,降低出生缺陷发生率。 Objective To understand the occurrence and related factors of birth defects in perinatal infants in Chaoyang District of Beijing. To provide effective intervention strategies to reduce the incidence of birth defects and provide a reliable basis for improving the quality of birth population. Methods A total of 106 370 perinatal infants born during the 28 weeks of pregnancy to 26 days after delivery in 26 neighborhoods were monitored for birth defects and related factors. Results From July 2013 to June 2015, a total of 2 431 cases of perinatal birth defects were detected. The detection rate was 22.85 ‰, with significant difference between the quarters (P <0.05). The birth defect rate of male infants was significantly higher than that of female infants (P <0.05). The birth defect rate of mothers <20 years old was significantly higher than that of other age groups, followed by> 35 years old. The first five birth defects were the other malformations of the external ear, congenital heart disease, multiple fingers (toe), cryptorchidism, hypospadias. From July 2013 to June 2015, there were 318 cases of perinatal death, of which 31.13% were born with birth defects and 57.58% were fatal birth defects. Conclusions The incidence of birth defects in Chaoyang District is higher than the national average. The incidence of birth defects is related to the age of pregnant women, the gender of perinatals and the prevalence during pregnancy. Prenatal screening and prenatal diagnosis should be strengthened to improve the prenatal diagnosis of birth defects Rate, reduce the incidence of birth defects.