Abstract: Objective To learn the levels of prevalence of disease kinds the main birth defects in Sichuan province. Method According to national birth defect monitoring program,the data were collected from the hospitals monitoring the birth defects,in order to provide the basis for making more effective intervention measures. Results The first five main birth defects were external ear and other malformations(22.41/10⁴),polydactyly (14.11/10⁴),congenital heart diseases(8.81/10⁴),cleft lip with cleft palate(7.86/10⁴),cleft lip(5.12/10⁴).The diagnosis of external ear and other malformations and polydactyly was 95% after delivery,and with live birth as major outcome;The proportion of the diagnosis after delivery of the other three defects was about 60%,these defects usually were with live birth as outcome too,but the proportion of dead fetus was more than 30%. Conclusions The prevalence of the above five main birth defects is at relatively high level,so etiology or family etc research is suggested to carry out,based on the monitoring data.The ability of hospital to screen and diagnose congenital heart diseases should be improved.

Key words: birth defect, perinatal infant, disease kinds

摘要： 目的 了解四川省围产儿主要出生缺陷病种发生率水平,为制定更有效的干预措施提供依据。方法 按照国家出生缺陷监测方案,以医院为基础的出生缺陷监测方法收集资料。结果 2001-2010年度四川省围产儿前五位出生缺陷病种依次为外耳及其他畸形22.41/10⁴,多指(趾)为14.11/10⁴、先天性心脏病8.81/10⁴,唇裂合并腭裂7.86/10⁴,唇裂5.12/10⁴,且前三者有逐渐增加趋势。以外耳及其他畸形、多指(趾)两类缺陷为主,产后确诊占95%以上,转归以活产为主;先天性心脏病、唇裂、唇裂合并腭裂产后确诊占60%,产前确诊的比例约30%,转归以活产为主,但死胎(包括治疗性引产)所占比例超过30%。结论 四川省围产儿外耳及其他畸形、多指(趾)、总唇裂等发生率处较高水平,围产儿先天性心脏病的发生率水平较低,建议在监测数据的基础上开展病因学或家系研究等内容,进一步提高各级医院产前筛查和诊断先心病的能力。

关键词: 出生缺陷, 围产儿, 病种