目的:了解沈阳市人群出生缺陷患病状况,为病因研究提供线索,为政府决策提供依据。方法:利用妇幼保健三级网络,采用前瞻性的以人群为基础的监测方法收集出生缺陷资料,诊断采用国际疾病分类标准ICD-9,应用SPSS11.0软件进行数据统计分析。结果:5年间监测出生儿232 337例,发现出生缺陷3 416例,发生率为147.03/万。不同年度、城乡、性别、妊娠结局出生缺陷发生率比较差异均有统计学意义。发现出生缺陷172种,其中单发2 860例81种,占总数的83.72%;多发556例91种,占总数的16.28%。单发前10位依次为先天性心脏病、总唇裂、多指(趾)、神经管畸形、外耳畸形、脑积水、直肠肛门闭锁、先天性巨结肠、腹裂、肢体短缩,共2 393例,占单发总数的70.05%。结论:沈阳市人群出生缺陷发生率城市高于农村,男性高于女性,死胎、死产高于活产,出生缺陷病种较多。随着产前筛查和产前诊断技术的提高,出生缺陷发生率呈现逐年上升的趋势。 Objective: To understand the prevalence of birth defects in Shenyang population, provide clues for the study of the cause, and provide the basis for government decision-making. Methods: Using the three levels of maternal and child health care network, a prospective population-based monitoring method was used to collect birth defects data. The diagnosis was based on International Classification of Diseases ICD-9. SPSS11.0 software was used for statistical analysis. Results: A total of 232 337 newborns were monitored during the five years. A total of 3416 birth defects were detected, with a prevalence of 147.03 / million. The incidence of birth defects in different years, urban and rural areas, gender and pregnancy outcome were significantly different. 172 kinds of birth defects were found, of which 2860 were single and 81 species, accounting for 83.72% of the total; 91 cases were 556 cases, accounting for 16.28% of the total. The first 10 single were congenital heart disease, total cleft lip, multiple fingers (toes), neural tube defects, external ear deformity, hydrocephalus, rectal anal atresia, Hirschsprung’s disease, abdominal cracking, limb shortening, a total of 2 393 cases, accounting for 70.05% of the total single hair. Conclusion: The incidence rate of birth defects in Shenyang population is higher than that in rural areas. The male is higher than female, the stillbirth is higher than the live birth, and there are more birth defects. With the increase of prenatal screening and prenatal diagnosis, the incidence of birth defects shows a trend of increasing year by year.