目的:了解三峡中东部区域(宜昌市)0～7岁儿童出生缺陷的发生率及其分布情况。方法:①于2002-07/12采用分层随机抽样方法抽取宜昌市13个市区0～7岁儿童10130人进行出生缺陷筛查。被调查儿童的祖父母及父母均为当地人,且监护人对调查项目知情同意。②针对调查表编写基线调查人员的培训资料,统一拟调查的37种出生缺陷疾病的诊断标准。分赴宜昌市13个地区57个乡镇126个村,走村入户,分别对儿童父母进行出生年月、民族、文化程度、工种、居住环境、婚姻、孕期分娩及子女情况、个人健康、家族遗传病史及儿童37种出生缺陷疾病等进行问卷调查。③结果描述采用百分比形式,计数资料差异性测定采用χ2检验。结果:①共发出调查问卷10130份,实际回收9958份,收回填写完整准确9869份,有效率为99.11%。调查儿童男5520人,女4349人,男女之比为1.27∶1。共筛出出生缺陷198人,男132人,女66人,男女之比为2∶1,总患病率为2.01%。②宜昌市不同地区0～7岁儿童出生缺陷率不同,兴山地区最高,西陵地区最低;兴山、远安及秭归出生缺陷率均远高于宜昌市平均水平(P<0.01);夷陵及枝江地区缺陷率亦高于宜昌市平均水平,但无明显差异(P>0.05)。③在198例出生缺陷儿中,发生率最高的出生缺陷是先天性佝偻病,其次是腹股沟疝,居第3位的是先天性心脏病和唇裂,占出生缺陷的53.54%。④腹股沟斜疝主要集中在夷陵、枝江和长阳,佝偻病主要集中在秭归。⑤不同年龄儿童出生缺陷发生率由高到低的顺序为:3～岁,2～岁,6～岁,1～岁,0～岁,4～岁,5～岁。3～岁出生缺陷发生率明显高于5～岁(2.81%,1.17%,χ2=10.5,P<0.01)。⑥被调查的男孩5520人中出生缺陷发生率明显高于女孩,分别为2.36%(132/5520)和1.49%(66/4349,χ2=9.299,P<0.01)。结论:①宜昌市不同地区0～7岁儿童出生缺陷发生率有明显地域、性别差异。②经济较落后的山区兴山、远东及秭归儿童出生缺陷发生率较丘陵地区西陵和当阳高,应成为今后进行出生缺陷监测工作的重点。③加强孕期保健知识教育,对降低出生缺陷生率具有重要意义。 Objective: To understand the incidence and distribution of birth defects in children aged 0-7 years in the middle and eastern Three Gorges (Yichang). Methods: ①The stratified random sampling method was used to select 10,130 children aged 0 ~ 7 in 13 urban areas of Yichang City from July 2002 to December 2002 for screening for birth defects. The grandparents and parents of the children under investigation were all locals, and the guardians informed the investigation items. ② For the survey prepared by the baseline survey staff training materials, unified survey of 37 kinds of birth defects diagnosis criteria. They were transferred to 126 villages in 57 towns and villages in 13 districts and districts of Yichang City. They went to the village to go home and separately set the date of birth, ethnic group, educational background, type of work, living environment, marriage, childbirth and children during pregnancy, personal health, family Genetic history and children 37 kinds of birth defects and other diseases were surveyed. The results described using the percentage form, count data were determined by χ2 test. Results: ① A total of 10130 questionnaires were sent out, the actual recovery of 9958 copies, complete and accurate recovery of 9869 copies, the effective rate was 99.11%. 5520 children were surveyed, 4349 were female, the ratio of male to female was 1.27: 1. A total of 198 birth defects were screened, 132 males and 66 females. The ratio of males to females was 2: 1, with a total prevalence of 2.01%. (2) The incidence of birth defects was different in 0- to 7-year-old children in different districts of Yichang, with the highest in Xingshan district and the lowest in Xiling district; the birth defects rate in Xingshan, Yuan’an and Zigui were much higher than the average of Yichang (P <0.01); Yiling And Zhijiang area defect rate is also higher than the average level of Yichang City, but no significant difference (P> 0.05). ③ Among 198 cases of birth defects, the highest incidence of birth defects was congenital rickets, followed by inguinal hernia. The third place was congenital heart disease and cleft lip, accounting for 53.54% of birth defects. ④ inguinal hernia mainly concentrated in Yiling, Zhijiang and Changyang, rickets mainly concentrated in Zigui. The incidence of birth defects in children of different ages from high to low order: 3 to 2 years old, 6 to 1 year old, 0 to 4 years old, 5 to 5 years old. The incidence of birth defects of 3 ~ year old was significantly higher than that of 5 ~ year old (2.81%, 1.17%, χ2 = 10.5, P <0.01). ⑥ The incidence of birth defects in 5520 boys was significantly higher than that of girls (2.36% (132/5520) and 1.49% (66/4349, χ2 = 9.299, P <0.01 respectively. Conclusions: ① The incidence of birth defects in children aged 0-7 years in different areas of Yichang City is obviously different in area and gender. ② The economically underdeveloped mountain Xingshan, Far East and Zigui birth defects than the hilly areas Xiling and Dangyang high incidence should be the focus of monitoring birth defects. ③ to strengthen knowledge of pregnancy health education, to reduce the birth defect rate of birth is of great significance.