出生缺陷的影响因素研究进展  

Progress of research on risk factors of birth defects

作　　者：吴金华[1] 陈坤[2] 

机构地区：[1]浙江省舟山市妇幼保健院,浙江舟山316000 [2]浙江大学公共卫生学院流行病学教研室

出　　处：《疾病监测》2009年第1期72-75,共4页Disease Surveillance

基　　金：浙江省舟山市医药卫生科技计划项目(05B07)

摘　　要：出生缺陷的影响因素非常多,也很复杂,到目前为止,大约还有50%的出生缺陷不能归因于某单一原因。根据目前研究,出生缺陷的影响因素可以分成4大类:(1)单基因遗传,例如血友病、软骨发育不全、囊性纤维化等;(2)染色体数目异常,例如唐氏综合征;(3)环境致畸因素,例如海豹短肢畸形、酒精综合征;(4)基因环境交互作用,包括唇腭裂、先天性心脏病、神经管畸形等。因此在研究出生缺陷致病因素时,需要从多个角度进行考虑,排除混杂因素,才能获得真实的研究结果。Risk factors of birth defects are various and complex. So far, up to 50% of birth defects can not be attributed to a single cause. According to the present study, risk factors of birth defects can be divided into four categories： （1） monogenic inheritance, such as hemophilia, achondroplasia, and cystic fibrosis; （2） numerical abnormality of chromosome, such as Down＇s syndrome; （3） teratogenic environmental factors, such as Phocomelia and alcohol syndrome; （4） gene-environment interactions, including cleft lip and palate, congenital heart disease, and neural tube defects. Therefore, multiple variables shall be taken into account and confounding factors should be ruled out for the birth defects risk factors study to obtain a reliable finding.

关 键 词：出生缺陷 病因 流行病学 

分 类 号：R174[医药卫生—妇幼卫生保健]