重大出生缺陷研究中的样本采集与管理

Sample Collection and Management in the Study of Birth Defects

出生缺陷是一种不正常发育引起的患儿先天性结构或功能异常。中国出生缺陷人群数量较大,这个问题在经济发展相对落后的农村更为严重。由于大多数出生缺陷发生机制还不明确,尚无有效治疗手段,故进行相关机制研究尤为重要。为更好地开展重大出生缺陷的研究,必须优化实验的顶层设计,并在样本采集、保存、运输等环节做到规范化、标准化,保证样本的质量。同时采用现代信息系统对样本进行集约化管理,力求达到资料完整、查询方便、信息共享,为后续研究打下坚实基础。

Congenital disorder usually refer to the condition where functional or structural abnormalities developed at or before the birth of a child.The incidence of this congenital disorder is very high in China,especially in economically underdeveloped areas.Mechanisms of most of these birth defects are unclear and not many effective treatments are available.Given the complex nature of various birth defects,we must optimize the study using a top-level design,with thorough consideration to normalize and standardize sample collection,sample storage and transportation.At the same time,we will utilize a modern information and database management system for the fast,easy and reliable access and sharing of accurate sample information within our groups,in order for the successful execution of the program.