目的 建立覆盖安徽省合肥市全人群的出生缺陷人群监测系统，开展出生缺陷人群监测，掌握该地区出生缺陷发生情况。方法 利用妇幼保健网络，构建基于妇幼卫生信息平台的出生缺陷人群监测信息管理系统及出生缺陷人群监测网络，按照《出生缺陷人群监测方案》进行人群监测，并对2018—2020年的监测结果进行分析。结果 通过建立覆盖合肥市的出生缺陷人群监测系统，全市县(市)区、乡镇(街道)、村居人群监测覆盖率达100%,围产儿漏报率、严重出生缺陷漏报率、报表缺漏项率均低于国家人群监测方案要求。2018—2020年安徽省合肥市围产儿监测随访率分别为96.50%、95.01%和96.80%,出生缺陷人群发生率分别为22.75‰、32.06‰和29.42‰;男性人群出生缺陷总发生率(29.93‰)高于女性(25.69‰);城镇人群总出生缺陷发生率(34.63‰)高于农村(20.01‰)。2018年出生缺陷类型前5位依次为先天性心脏病、多指(趾)、外耳其他畸形、小耳和并指(趾);2019年依次为先天性心脏病、多指(趾)、睾丸鞘膜积液、附耳、外耳其他畸形；2020年依次为先天性心脏病、外耳其他畸形、附耳、多指(趾)、遗传代谢性疾病。结论 安徽省合肥市出生缺陷人群监测质量较高，应进一步降低合肥市人群出生缺陷发生率。

Objective To establish a birth defect surveillance system covering the whole population, so as to carry out birth defect monitoring, and get a full view of the prevalence of birth defects in Hefei, Anhui. Methods The birth defect surveillance network and information management system was built based on maternal and child health network and information platform. Population monitoring was conducted in accordance with the national Birth Defect Population Monitoring Program. The surveillance results from 2018 to 2020 were analyzed. Results A birth defect monitoring system covering Hefei city including district, town and village was established. The coverage of the population was 100%. Perinatal omission rate, severe birth defect omission rate and report error rate was all lower than the requirement of national population monitoring program.The follow-up rates of perinatal infants were 96.50%, 95.01% and 96.80% respectively, and the incidence of birth defects were 22.75‰, 32.06‰ and 29.42‰ respectively from 2018 to 2020 in Hefei, Anhui. The incidence of birth defects in males(29.93‰) was higher than that in females(25.69‰), while this number in urban area(34.63‰) was higher than that in rural area(20.01‰). Top five birth defects were congenital heart disease, multiple fingers/toes, other outer ear deformities, microtia, and syndactylia in 2018, while they were congenital heart disease, multiple fingers/toes, hydrocele of testis, deputy ear, other outer ear deformities in 2019 and congenital heart disease, other outer ear deformities, deputy ear, multiple fingers/toes, hereditary metabolic disease in 2020. Conclusion The quality of birth defect monitoring in Hefei is high. The incidence of birth defects in Hefei should be further reduced.