Component A: BD-STEPS Core at the NC Center for Birth Defects Research and Prevention

项目摘要 组件A：NC出生缺陷研究和预防中心的BD-STEPS核心 出生缺陷是婴儿死亡和儿童发病的主要原因，但大多数病例的病因是 未知。北卡罗来纳州出生缺陷中心成立于2002年，由疾病预防控制中心提供资金 研究和预防(NCCBDRP)一直是国家出生缺陷预防的主要贡献者 研究(NBDPS)和出生缺陷研究以评估妊娠暴露(BD-STEPS)。下一阶段的 BD-Steps将继续在这些重要的多地点、以人群为基础的病例对照研究的基础上，确定 重大结构性出生缺陷的新的流行病学和遗传危险因素可转化为 预防策略。NCCBDRP的具体目标是(1)实现BD-STEP核心协议 北卡罗来纳州包括：(A)利用现有的全州范围、以人口为基础的出生缺陷监测系统 在北卡罗来纳州积极确定活产、死产和选择性流产中每年至少150例 在人口结构多样化的33个县的研究区域内符合研究条件的出生缺陷；(B)利用出生证明 确定每年在同一地区出生的大约100名对照婴儿的符合条件的人群样本 研究区域；(C)由临床遗传学家和儿科心脏病专家对临床病例进行审查和分类 使用抽象的医疗记录；(D)与疾控中心的中央约谈承包商合作，促进NC 参加核心访谈和在线职业调查；(E)进行补充数据收集 关于怀孕前和怀孕期间可报告的感染情况；(F)进行补充生物检疫收集 新生儿血斑残留；(2)建立独特的处方药调查数据资源 通过将北卡罗来纳州BD-STEPS和NBDPS参与者与健康联系起来，在怀孕和出生缺陷期间使用 来自NC Medicaid和Blue Cross Blue Shield NC的保险索赔记录；(3)建立唯一的 采集棚用于产前环境暴露和出生缺陷调查的生物素资源 BD-STEPS和NBDPS参与者的乳牙在NC中；(4)利用NCCBDRP的良好- 建立了一组调查人员和合作者，利用BD-STEP开发创新的、高影响的研究 和NBDPS关于与出生缺陷相关的遗传学、表观遗传学和基因暴露相互作用的数据，以及 出生缺陷的流行病学危险因素包括孕期用药、孕产妇慢性和 传染病和健康的关键社会决定因素，如个人和邻里层面 社会经济因素、文化适应、就业和工作场所条件以及环境因素；(5) 使用来自BD的汇集数据，至少制作七篇NC主导的手稿，用于在高影响力期刊上发表- 在3.5年的获奖期内采取步骤和/或NBDPS；以及(6)继续我们长期成功的 出生缺陷流行病学培训计划。

Project Abstract Component A: BD-STEPS Core at the NC Center for Birth Defects Research and Prevention Birth defects are a leading cause of infant mortality and childhood morbidity, yet the etiology of most cases is unknown. Established in 2002 with funding from the CDC, 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). The next phase of BD-STEPS will continue to build on these important multi-site, population-based case-control studies to identify novel epidemiologic and genetic risk factors for major structural birth defects that can be translated into prevention strategies. The NCCBDRP's Specific Aims are to (1) Implement the BD-STEPS Core protocol in North Carolina including: (a) Utilize the existing state-wide, population-based birth defects surveillance system in NC to actively ascertain at least 150 cases per year among livebirths, stillbirths and elective abortions with a study-eligible birth defect in the demographically diverse 33-county study area; (b) Utilize birth certificates to identify an eligible population-based sample of approximately 100 control infants per year born in the same study area; (c) Conduct clinical case review and classification by clinical geneticist and pediatric cardiologist using abstracted medical records; (d) Partner with CDC's central interviewing contractor to facilitate NC participation in the core interview and online occupational survey; (e) Conduct supplemental data collection about reportable infections before and during pregnancy; (f) Conduct supplemental biospecimen collection of residual newborn blood spots; (2) Establish a unique data resource for investigating prescription medication use during pregnancy and birth defects by linking BD-STEPS and NBDPS participants in NC with health insurance claims records from NC Medicaid and Blue Cross Blue Shield NC; (3) Establish a unique biospecimen resource for investigating prenatal environmental exposures and birth defects by collecting shed deciduous teeth from BD-STEPS and NBDPS participants in NC; (4) Leverage the NCCBDRP's well- established group of investigators and collaborators to develop innovative, high-impact studies with BD-STEPS and NBDPS data on genetics, epigenetics, and gene-exposure interactions associated with birth defects, and epidemiologic risk factors for birth defects including medication use during pregnancy, maternal chronic and infectious disease, and key social determinants of health such as individual- and neighborhood-level socioeconomic factors, acculturation, employment and workplace conditions, and environmental factors; (5) Produce at least seven NC-led manuscripts for publication in high-impact journals using pooled data from BD- STEPS and/or NBDPS during the 3.5-year award period; and (6) Continue our long-standing, successful training program in birth defects epidemiology.