目的探讨新生儿出生缺陷的发生情况、种类及相关因素,为出生缺陷的预防工作提供一定的依据。方法回顾分析马鞍山市妇幼保健院2007~2013年新生儿出生缺陷发生情况、变化趋势、顺位特点及转归。结果 2007~2013年我院产科共出生22 889例新生儿,其中有出生缺陷359例,出生缺陷发生率为15.68‰,近年有增高趋势。出生缺陷顺位依次为肢体畸形22.6%、先天性心脏病16.7%、神经管畸形13.4%、消化系统畸形10%、唇腭裂9.2%。孕妇年龄大于35岁的出生缺陷发生率较高,农村出生缺陷发生率明显高于城市。出生缺陷患儿中活产150例(41.8%),治疗性引产及死胎共209例(58.2%),其中最多的是先天性心脏病47例(22.5%),其次神经系统畸形45例(21.5%)。结论出生缺陷的发生有增高趋势,积极采用三级预防措施,降低新生儿期出生缺陷发生率,尤其是预防先天性心脏病,神经管畸形的发生,进一步提高出生人口素质。 Objective To investigate the occurrence, types and related factors of neonatal birth defects and provide some evidences for the prevention of birth defects. Methods Retrospective analysis Ma’anshan Maternal and Child Health Hospital 2007-2013 neonatal birth defects, trends, features and succession outcome. Results A total of 22,889 newborns were born in obstetrics department of our hospital from 2007 to 2013, of which 359 were born with birth defects and the incidence of birth defects was 15.68 per thousand. There was an increasing trend in recent years. The order of birth defects was 22.6% deformity, 16.7% congenital heart disease, 13.4% neural tube defects, 10% digestive system malformations and 9.2% cleft lip and palate. The incidence of birth defects in pregnant women older than 35 years old is higher, and the incidence of rural birth defects is obviously higher than that in urban areas. Among the birth defects, 150 (41.8%) were alive, 209 (58.2%) were induced abortion and stillbirth, of which 47 cases (22.5%) had congenital heart disease, 45 cases (21.5% %). Conclusions The occurrence of birth defects tends to increase. Three preventive measures are actively adopted to reduce the incidence of birth defects in neonatal period, especially to prevent the occurrence of congenital heart disease and neural tube defects and to further improve the quality of the birth population.