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

组件 A：北卡罗来纳州出生缺陷研究和预防中心的 BD-STEPS II 核心（NC BDSTEPS II 核心）

• 批准号: 10421040
• 负责人: Tania A. Desrosiers
• 金额: $ 80万
• 依托单位: UNIV OF NORTH CAROLINA CHAPEL HILL
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-09-01 至 2023-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10421040
• 关键词: Component; BD; STEPS; II; Core

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.

项目摘要 出生缺陷是婴儿死亡率、发病率和医疗保健费用的主要原因，但大多数新生儿的病因 出生缺陷仍然未知。北卡罗来纳州出生缺陷研究中心成立于2002年， 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，以评估妊娠期流产（BD-STEPS I）。NCCBDRP是一个 北卡罗来纳州（北）Gillings大学流行病学系 查佩尔山的全球公共卫生学院和北卡罗来纳州出生缺陷监测项目 （NCBF 1）在罗利的北卡罗来纳州公共卫生部。BD-STEPS II将基于NBDPS的 和BD-STEPS I的以人群为基础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，并提供具有强大翻译潜力的信息 公共卫生预防工作。NCCBDRP的具体目标是（1）实施标准化的BD- STEPS II协议在我们定义明确的，人口统计学上多样化的研究区域，包括：（a）利用我们的增强型 建立出生缺陷监测系统，每年在33个县的研究区确定至少200个合格病例; (b)每年利用出生证明确定100名对照婴儿的合格样本;（c）进行临床检查， 由临床遗传学家和儿科心脏病专家进行病例审查和分类;（d）获得NC的同意 参与者补充数据收集，包括新生儿血点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）收集以下信息 通过母亲电话访谈了解早期妊娠暴露于可改变的风险因素，特别关注 孕产妇慢性病及其治疗、妊娠期传染病和药物治疗;（3）链接 同意NC参与者进入电子疾病监测系统，以确定以下信息： 妊娠前和妊娠期间可报告的感染;（4）使用NBDPS制定创新研究提案， BD-STEPS数据具有最大的公共卫生影响潜力，进行严格的分析，提出调查结果 在国家会议上，并在5年奖励期内发表至少10篇论文;（5）进行试点研究 通过将病例母亲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情况 （6）进行创新的实验室研究，以开发使用剩余新生儿的方法 血斑，以调查出生缺陷的潜在遗传，表观遗传和环境风险因素;（7） 提供关于流行病学、遗传/表观遗传和生物统计方法在出生中应用的专业知识 缺陷研究;（8）参与与其他CBDRP和CDC的合作研究计划;以及（9） 继续培养下一代出生缺陷研究人员。NC中心的理想位置是 充分利用我们的成功记录，充分参与BD-STEPS II， 了解主要结构性出生缺陷的原因，并预防未来发生出生缺陷病例。

项目成果

Predictors of referral to the North Carolina Infant-Toddler Program among infants with birth defects and infants born extremely preterm or low birthweight.

有出生缺陷的婴儿和极早产或低出生体重的婴儿转诊至北卡罗来纳州婴幼儿计划的预测因素。

• DOI: 10.1002/bdr2.1590
• 发表时间: 2019
• 期刊: Birth defects research
• 影响因子: 2.1
• 作者: Forestieri,NinaE;VanBuren,Eric;Simpson,BarbaraD;Meyer,RobertE
• 通讯作者: Meyer,RobertE

Special education use in elementary school by children with nonsyndromic orofacial clefts.

非综合征性口颌裂儿童在小学的特殊教育用途。

• DOI: 10.1002/bdr2.1418
• 发表时间: 2019
• 期刊: Birth defects research
• 影响因子: 2.1
• 作者: Watkins,StephanieE;Allori,AlexanderC;Meyer,RobertE;Aylsworth,ArthurS;Marcus,JeffreyR;Strauss,RonaldP
• 通讯作者: Strauss,RonaldP