Component A: BD-STEPS II Core at North Carolina Center for Birth Defects Research and Prevention (NC BDSTEPS II Core)

项目摘要 出生缺陷是婴儿死亡率、发病率和医疗费用的主要原因，但大多数 出生缺陷仍不得而知。北卡罗来纳州出生缺陷研究中心成立于2002年 和预防(NCCBDRP)是国家出生缺陷预防研究的主要贡献者 (NBDPS)和出生缺陷研究，以评估怀孕暴露(BD-步骤I)。NCCBDRP是一个 北卡罗来纳大学(UNC)吉林斯大学流行病学系之间的合作 教堂山全球公共卫生学院和北卡罗来纳州出生缺陷监测计划 (NCBDMP)在罗利的北卡罗来纳州公共卫生部门。BD-步骤II将建立在NBDPS的基础上 和BD-Steps I的基于人群的多中心病例对照研究设计，以确定出生缺陷的原因 使用流行病学和遗传学研究方法，并提供具有很强翻译潜力的信息 致力于公共卫生预防工作。NCCBDRP的具体目标是(1)实施标准化的BD- 第二步在我们定义明确、人口多样化的研究区域，包括：(A)利用我们增强的 建立出生缺陷监测系统，每年在33个县研究区确定至少200例合格病例； (B)利用出生证明确定每年100名对照婴儿的合格样本；(C)进行临床 临床遗传学家和儿科心脏病专家对病例进行审查和分类；(D)征得NC的同意 补充数据收集的参与者，包括新生儿血迹和获得医疗保健索赔 数据；和(E)从北卡罗来纳州国家实验室获得残留的新生儿血点；(2)收集关于以下方面的信息 通过母亲电话采访，早期怀孕暴露于可改变的危险因素，重点是 孕产妇慢性病及其治疗、孕期传染病和药物治疗；(3)链接 同意参加电子疾病监测系统的NC参与者以确定以下信息 孕前和孕期可报告的感染；(4)利用NBDPS和 BD-采取对公共健康影响最大的潜在数据，进行严格分析，提出调查结果 在全国会议上，并在5年获奖期内发表至少10篇论文；(5)进行试点研究 通过将病例和对照母亲与人口水平联系起来验证自我报告的处方药使用 保健主张；(6)进行创新的实验室研究，以开发利用残存新生儿的方法 血样调查出生缺陷的潜在遗传、表观遗传和环境风险因素；(7) 提供流行病学、遗传学/表观遗传学和生物统计学方法在出生方面的应用方面的专业知识 缺陷研究；(8)参与与其他CBDRP和疾病预防控制中心的合作研究倡议；以及(9) 继续培养未来一代出生缺陷研究人员。NC中心的理想位置是 充分利用我们已证明的成功记录并全面参与业务拓展-步骤II，以推进我们的 了解重大结构性出生缺陷的原因，防止将来发生出生缺陷。

Project Abstract Birth defects are a leading cause of infant mortality, morbidity and healthcare costs, yet the etiology of most birth defects remains unknown. Established in 2002, the North Carolina Center for Birth Defects Research and Prevention (NCCBDRP) has been a major contributor to the National Birth Defects Prevention Study (NBDPS) and Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS I). The NCCBDRP is a collaboration between the Department of Epidemiology at the Universityof North Carolina (UNC) Gillings School of Global Public Health in Chapel Hill, and the North Carolina Birth Defects Monitoring Program (NCBDMP) at the North Carolina Division of Public Health in Raleigh. BD-STEPS II will build upon NBDPS' and BD-STEPS I's population-based, multi-center case-control study design to identify causes of birth defects using epidemiologic and genetic research methods, and provide information with strong potential for translation to public health prevention efforts. The NCCBDRP's Specific Aims are to (1) Implement the standardized BD- STEPS II protocol in our well-defined, demographically diverse study region, including: (a) Utilize our enhanced birth defects surveillance system to identify at least 200 eligible cases in the 33 county study area each year; (b) Utilize birth certificates to identify an eligible sample of 100 control infants per year; (c) Conduct clinical case review and classification by clinical geneticist and pediatric cardiologist; (d) Obtain consent from NC participants for supplemental data collection including newborn blood spots and access to health care claims data; and (e) Obtain residual newborn blood spots from the NC State Laboratory; (2) Collect information on early pregnancy exposure to modifiable risk factors via a maternal telephone interview with a specific focus on maternal chronic disease and their treatments, infectious disease in pregnancy, and medications; (3) Link consented NC participants to the Electronic Disease Surveillance System to ascertain information about reportable infections before and during pregnancy; (4) Develop innovative study proposals using NBDPS and BD-STEPS data with maximum potential for public health impact, conduct rigorous analyses, present findings at national meetings, and publish at least 10 papers during the 5-year award period; (5) Conduct a pilot study to validate self-reported prescription medication use by linking case and control mothers with population-level health care claims; (6) Conduct innovative laboratory research to develop methods for using residual newborn blood spots to investigate potential genetic, epigenetic, and environmental risk factors for birth defects; (7) Provide expertise on the application of epidemiologic, genetic/epigenetic, and biostatistical methods to birth defects research; (8) Participate in collaborative research initiatives with other CBDRP and the CDC; and (9) Continue to train the future generation of birth defect researchers. The NC Center is ideally positioned to leverage our demonstrated record of success and participate fully in BD-STEPS II to advance our understanding of the causes of major structural birth defects and prevent cases of birth defects in the future.