目的 分析四川省成都市锦江区围产儿出生缺陷的发生情况及母亲孕期高危因素对出生缺陷的影响。方法 选取2019年1月—2021年12月在四川省成都市锦江区医疗机构出生的全部围产儿为研究对象。出生缺陷患儿数据来源于成都市妇幼卫生信息直报系统中> 28周出生或引产的缺陷儿，母亲孕期及分娩相关信息来源于成都市“妇幼保健一卡通管理系统”。采用病例对照研究的方法，将研究对象分为病例组和对照组。病例组为被诊断是出生缺陷的围产儿2 060例，对照组按照1∶1倾向性评分最近法匹配，选取健康的围产儿2 060例。通过对比两组围产儿母亲孕期的基本情况，采用χ²检验和非条件logistic回归方法分析母亲孕期高危因素对围产儿出生缺陷的影响。结果 2019—2021年，成都市锦江区医疗机构围产儿出生缺陷发生率为255.4/万。其中，先天性心脏病居首位，发生率为84.06/万。630例缺陷围产儿在产前确诊，占比30.58%。179例缺陷围产儿发生不良妊娠结局(死胎或0～6 d死亡)，占比8.7%。两组围产儿母亲孕期叶酸服用率为94.7%，产前筛查率为50.4%，早孕建卡率为74.5%。单因素分析结果显示，病例组母亲有高危因素的比例(56.7%)高于对照组(52.9%)，差异有统计学意义(χ²=6.12,P=0.013)。Logistic回归分析结果显示，母亲孕期高危因素中的辅助生殖妊娠(OR=1.38)、双胎(OR=3.15)、年龄≥40岁(OR=2.23)会增加围产儿发生出生缺陷的风险。结论 出生缺陷的发生与母亲孕期某些高危因素相关，有必要进行高危人群的早期识别，以更好地预防围产儿出生缺陷的发生。

Objective To investigate the incidence of birth defect and the influence of maternal high-risk factors during pregnancy on birth defect at Jinjiang District, Chengdu, Sichuan Province.Methods All perinatal infants who were born in health institutes at Jinjiang District, Chengdu from Jan, 2019 to Dec, 2021 were recruited as study subjects. Data of birth defects were collected from Chengdu maternal and child information direct report system, including > 28 weeks of delivery or termination of pregnancy because of birth defects.Information of mothers was collected from Chengdu ‘maternal and child health care e-card system'. Case-control study was designed to recruit 2 060 perinatal infants diagnosed with birth defects as case group. The control group was matched 1∶1 with 2 060 healthy perinatal infants. Chi-Square test and logistic regression analysis were used to compare the general information of mothers between 2 groups and the influence of maternal high-risk factors during pregnancy on birth defect.Results The incidence of birth defects in health institutes at Jinjiang District, Chengdu was 255. 4/10 000 from 2019 to 2021. Congenital heart disease ranked the first, and the incidence was 84. 06/10 000. 630 cases birth defects were diagnosed before birth, accounting for 30. 58%. 179 cases had adverse pregnancy outcomes(stillbirth or 0-6 day death), accounting for 8. 7%. The rate of folic acid intake, prenatal screening and early pregnancy registration among 2 groups were 94. 7%, 50. 4%, and 74. 5% respectively. Uni-variate analysis indicated that the percentage of mothers with highrisk factors among case group(56. 7%) was higher than that among control group(52. 9%), the difference is statistically significant (χ² =6. 12,P = 0. 013). Logistic regression analysis showed that assisted reproductive technology(OR = 1. 38), twins(OR = 3. 15), maternal age≥40(OR = 2. 23) would increase the risk of birth defects.Conclusion Birth defects are associated with some maternal high-risk factors during pregnancy. Early detection of high-risk group is key to prevent perinatal birth defects.