Abstract: Background　Birth defects have become a major global public health concern.In Shanxi Province，a high-incidence region of birth defects，the quality of birth population is seriously affected by the rate of birth defects.Objective　To explore the trend in the incidence of birth defects and associated factors in Shanxi Province from 2012 to 2017，to provide evidence for the development of targeted prevention and control measures.Methods　Surveillance data of perinatal birth defects covering 11 cities in Shanxi Province during 2012 to 2017 were collected from 37 monitoring institutions.Analysis was performed on the overall incidence of birth defects，prevalence of birth defects by sex，incidence of birth defects by maternal residential area（rural or urban），and maternal age at delivery，changes in major birth defects and the incidence rank in descending order of them，and the diagnosis and outcome of birth defects.Results　In 2012—2017，the overall incidence of perinatal birth defects was 1.39%（6 316/455 374），and the average annual incidence of perinatal birth defects was 138.70/10 000.The annual incidence of perinatal birth defects showed an overall upward trend（χ2trend=97.68，P<0.001）.The incidence of birth defects in males（149.56/10 000） was significantly higher than that of females（124.65/10 000）（χ2=51.96，P<0.001）.The incidence of birth defects（142.58/10 000） in urban areas was significantly higher than that of rural areas（134.84/10 000）（χ2=51.96，P<0.001）.There were differences in the incidence of birth defects in different age groups（χ2=41.12，P<0.001）.The incidence of birth defects in the age group >35（172.65/10 000） was higher than that in the 20-, 25-, and 30-year-old（χ2 values were 24.32，39.14，28.02，P<0.001）.The top five major birth defects were congenital heart disease（37.31/10 000），polydactyly（19.39/10 000），cleft lip with or without cleft palate（14.05/10 000），neural tube defects（7.71/10 000），and other deformities of the outer ear（7.01/10 000）.The incidence of congenital heart disease increased from 13.23/10 000 in 2012 to 58.27/10 000 in 2017，with a significant difference（χ2=404.54，P<0.001）.Conclusion　The incidence of birth defects in Shanxi Province in 2012—2017 was generally on the rise.In particular，the incidence of congenital heart disease ranked first.The implementation of three-level preventive measures need to be strengthened to reduce birth defects and improve the quality of birth population.

Key words: Congenital abnormalities, Peripartum period, Prevalence, Surveillance, Shanxi

摘要： 背景　出生缺陷已成为全世界共同关注的重大公共卫生问题之一。山西省作为出生缺陷的高发地区，其出生缺陷发生率严重影响出生人口质量。目的　了解山西省2012—2017年出生缺陷变化趋势及相关因素，为制定有针对性的防控措施提供依据。方法　对山西省2012—2017年覆盖11个地市37所监测机构的围生儿出生缺陷监测数据进行分析。主要监测出生缺陷发生率、出生缺陷发生率的人群分布、主要出生缺陷发生率及顺位、出生缺陷儿的诊断和转归。结果　2012—2017年，共监测围生儿455 374例，出生缺陷儿6 316例（1.39%），围生儿出生缺陷平均发生率为138.70/万。不同年份间围生儿出生缺陷发生率总体呈上升趋势（χ2趋势=97.68，P<0.001）。男性围生儿（149.56/万）出生缺陷发生率高于女性（124.65/万），差异有统计学意义（χ2=51.96，P<0.001）；城镇围生儿（142.58/万）出生缺陷发生率高于农村（134.84/万），差异有统计学意义（χ2=51.96，P <0.001）。不同年龄组产妇围生儿出生缺陷发生率存在差异（χ2=41.12，P <0.001），>35岁年龄组产妇（172.65/万）围生儿出生缺陷发生率高于20~、25~、30~岁产妇（χ2值分别为24.32、39.14、28.02，P <0.001）。前5位主要出生缺陷依次为先天性心脏病（37.31/万）、多指（趾）（19.39/万）、总唇裂（14.05/万）、神经管畸形（7.71/万）及外耳其他畸形（7.01/万）。先天性心脏病的发生率由2012年的13.23/万上升至2017年的58.27/万，差异有统计学意义（χ2=404.54，P<0.001）。结论　2012—2017年山西省围生儿出生缺陷发生率总体呈上升趋势，先天性心脏病的发生率居于首位。需加强三级预防措施，减少出生缺陷，提高出生人口素质。

关键词: 先天畸形, 围生期, 患病率, 监测, 山西