目的:了解2000～2006年无锡市围产儿出生缺陷发生和构成情况,为制定干预措施提供依据,减少围产儿出生缺陷,保障生殖健康,提高出生人口素质。方法:在无锡市发生围产儿出生缺陷的病例中随机抽取1 211例,分析其发生情况。结果:无锡市1 211例出生缺陷病例中,按系统划分前5位畸形为先天性心脏病、多指趾、外耳畸形(除外小耳无耳)、皮肤畸形(血管瘤、色素痣)、唇腭裂,按部位划分前5位为颌面部畸形、四肢畸形、心血管系统畸形、皮肤畸形、中枢神经系统畸形;造成出生缺陷的原因有早孕期合并感染,早孕期接触有毒物质、孕妇合并症、早孕期异常、早孕期用药、丈夫接触有毒物质,其中大部分出生缺陷者无明显异常情况。结论:预防出生缺陷,减少缺陷儿的分娩机会,以免给家庭和社会带来沉重的负担,多加宣传教育,使广大育龄夫妇重视孕前保健检查和孕期的胎儿筛查。 Objective: To understand the incidence and constitution of birth defects in perinatal infants in Wuxi from 2000 to 2006, provide basis for making interventions, reduce the birth defects of perinatal children, ensure reproductive health and improve the quality of birth population. Methods: A total of 1 211 cases of perinatal birth defects in Wuxi were randomly selected and analyzed. Results: Among the 1 211 cases of birth defects in Wuxi City, the top 5 deformities were congenital heart disease, multiple finger toe, external ear deformities (except for small ears without ears), skin deformities (hemangiomas, pigmented nevus), cleft lip and palate , According to the site of the top five were maxillofacial deformities, limb deformities, cardiovascular system deformity, skin deformity, central nervous system deformity; resulting in birth defects due to early pregnancy infection, early pregnancy exposure to toxic substances, complications of pregnant women, Early pregnancy abnormalities, medication during early pregnancy, her husband exposed to toxic substances, most of whom were born without obvious abnormalities. Conclusion: Preventing birth defects, reducing the chances of giving birth to defective children, so as not to bring a heavy burden to families and society, and increasing publicity and education so that most couples of childbearing age value prenatal care and fetus screening during pregnancy.