1. 建立逾2.5万家庭辅助生殖及自然妊娠出生队列
建立了我国最大的ART与自然妊娠人群同步纳入队列。截止目前,已完成超过3.5万个家庭的纳入工作,包括了2.2万个自然妊娠家庭和1.3万个辅助生殖妊娠家庭;累计采集调查问卷60余万份,生物样本100余万管。该队列以家庭为单位同时纳入辅助生殖妊娠和自然妊娠家庭,实行长期随访,积累了丰富的数据和生物样本资源,为我国开展高质量的出生队列研究奠定了坚实基础。
2. 建立完善的出生队列建设标准体系
为推进出生队列的标准化建设,项目组建立了涵盖研究对象纳入和随访、问卷调查、生物样本采集、质量控制等出生队列建设全流程的标准体系,并组织编写《出生队列建设标准与适宜技术》专著,制定《出生队列建设技术规范》系列标准(标准号:T/CPMA 015.1—2020;T/CPMA 015.2—2020;T/CPMA 015.3—2020)。这些成果对于提升我国出生队列建设的整体质量具有重要意义。
3. 建立高水平出生队列云端信息化平台
项目组开发了拥有自主知识产权的出生队列云端信息化平台系统,共获得软件著作权6项。基于该平台的现代化网络体系,项目组实现了对队列成员的实时化数据采集和高水平质量控制,使队列建设的整体质量得到显著提升,也为我国队列研究的信息化平台搭建提供了值得借鉴的经验。
4. 建成标准化出生队列专用生物样本实体库
样本库占地面积为1360平米,具有样本存储、样本处理、信息化管理和质量控制等功能,采用先进的生物样本管理系统对所有样本进行标记、定位、查询和出入库管理,同时采用综合监控平台对样本库的日常运行进行监控和管理。已建立一整套标准操作流程确保样本库的正常维护、运行和样本出入库质控。
5.聚焦重大科学问题,开展广泛的人群和基础研究
基于已建成的样本库和信息库,已获得多时点代谢组/蛋白质组暴露组学、 (金属元素/塑化剂/PFASs )以及家系全基因组测序的多层次的组学数据,并进行初步分析。累计在Nature Medicine、Cell Research等高水平期刊发表研究论文50余篇。

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