目的了解粤北山区出生缺陷的风险因素,出生缺陷的种类、发生率等,以提出防控措施。方法首先设计问卷调查表,尽可能将引起出生缺陷的可能因素列入其中,然后,对粤北山区(连州)近5年来(2008~2013年)有生育(包括死胎、死产、活产)的家庭入户进行问卷调查,找出导致粤北山区出生缺陷的风险因素、出生缺陷的种类、发生率。结果调查了31548名新生儿,共检出有出生缺陷的新生儿683名(216/万人),出生缺陷的种类达31种,其中前五位的是:耳部畸形、先天性心脏病、唇腭裂、多指(趾)、先天性脑积水,主要的风险因素有孕妇早期感冒(发热、病毒感染)、营养因素(叶酸、碘缺乏)、孕妇有畸形儿生育史、孕期接触有害有毒物质、孕期服药史、近亲婚配。结论粤北山区出生缺陷的发生率比全国平均水平略高,其风险因素较多,加强对风险因素的控制,可降低出生缺陷的发生。 Objective To understand the risk factors of birth defects, the types and incidence of birth defects in the mountainous areas of northern Guangdong and put forward the prevention and control measures. Methods Firstly, a questionnaire was designed to include possible causes of birth defects as far as possible. Then, fertility (including stillbirth, stillbirth, live birth) was calculated in the past five years (2008-2013) ) Household survey conducted a questionnaire survey to identify the risk factors leading to birth defects in mountainous northern Guangdong, the types of birth defects, the incidence. Results A total of 31,548 newborns were investigated. A total of 683 newborns (2.16 million) were born with birth defects and 31 were born with birth defects. The top five were malformations of the ear, congenital heart disease, Cleft lip and palate, multiple fingers, congenital hydrocephalus, the main risk factors are early pregnancy cold (fever, viral infection), nutritional factors (folic acid, iodine deficiency), pregnant women have deformed children fertility history, exposure to harmful toxic during pregnancy Substance, medication history during pregnancy, marriage between relatives. Conclusions The incidence of birth defects in the mountainous areas of northern Guangdong is slightly higher than the national average. There are many risk factors and the control over risk factors can reduce the incidence of birth defects.