摘要
目的:通过系统性综述的方法,分析神经管缺陷(NTDs)的病因。方法:检索国内外文献数据库,检索时间从建库～2009年12月,纳入神经管缺陷病因学的系统性综述/Meta分析和随机对照试验,中文文献研究设计等级为病例-对照研究。结果:共纳入系统性综述/Meta分析9篇,随机对照试验2篇,病例-对照研究7篇。现有证据显示,遗传方面,MTHFR基因677位点TT基因型是非拉丁裔欧洲人群子代NTDs发生的危险因素;与HCY(同型半胱氨酸)代谢途径有关的酶或基因突变可引起NTDs发生概率增加,具有家族史及NTDs生产史其子代NTDs发病率较高。环境暴露方面,孕妇高热、父亲接触有机溶剂和使用抗癫痫药物(卡马西平和丙戊酸)是NTDs发生的危险因素,现有证据不支持紫外线照射和使用克罗米酚柠檬酸盐影响子代NTDs的发病风险的假设。生活行为方面,孕妇超重或肥胖、多次孕产史是NTDs发生的危险因素,使用IVF辅助生殖技术对NTDs发病的影响仍存在争议。结论:NTDs病因复杂,具有较高证据等级的病因学研究不多,病因仍有待探索。目前在孕早期补充叶酸是被广泛推荐使用的有效干预措施。
Objective：To analyze the causes of neural tube defect by systematic review. Methods：The international and national databases（from establishment to December 2009） were searched,all systematic reviews/Meta analysis and randomized controlled trials researches about the etiology of neural tube defect were included,case-control studies were also supplemented in Chinese literatures. Results：9 systematic reviews/ Meta analysis researches,2 randomized controlled trials and 7 case-control studies in Chinese were included.The current evidence suggested that TT genotype in 677 locus of MTHFR gene was a risk factor of neural tube defect of non-Latin European descents from the genetic point of view;the enzymatic mutation and gene mutation related to homocysteine（HCY） metabolic pathway induced the increase of prevalence of neural tube defect,the incidence of neural tube defect of offspring whose parents had family history and birth history of neural tube defect was high.In terms of environmental exposure,maternal hyperthermia,paternal organic solvent exposure and using antiepileptic drugs（carbamazepine and valproic acid） during pregnancy were risk factors of neural tube defect.The hypothesis was not supported that UVA exposure and clomiphene citrate were risk effect factors of neural tube defect in offspring.In terms of life and behaviors,maternal overweight and obesity,the history of multiple pregnancy and delivery were risk factors of neural tube defect,the effect of IVF assisted reproductive technology on the onset of neural tube defect is controversial. Conclusion：The etiology of neural tube defect is complicated,and evidence available of high level is limited till now,the causes of neural tube defect need to be searched.Based on present evidence,folic acid supplementation during the first trimester of pregnancy is an effective intervention measure of neural tube defect,which is recommended widely.
出处
《中国妇幼保健》
CAS
北大核心
2011年第24期3825-3829,共5页
Maternal and Child Health Care of China
基金
卫生部妇幼保健与社区卫生司2009年委托课题
关键词
神经管缺损
病因
系统性综述
随机对照试验
Neural tube defect
Etiology
Systematic review
Randomized controlled trail
