Birth Defects Study to Evaluate Pregnancy exposureS (BD-STEPS) Core? Arkansas Center and Stillbirth

评估妊娠暴露的出生缺陷研究 (BD-STEPS) 核心？

• 批准号: 10765132
• 负责人: Wendy N Nembhard
• 金额: $ 90万
• 依托单位: UNIV OF ARKANSAS FOR MED SCIS
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-01 至 2027-03-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10765132
• 关键词: Birth; Defects; Study; Evaluate; Pregnancy

PROJECT SUMMARY/ABSTRACT Three percent of liveborn babies in the US have a major structural birth defect. The emotional, psychological and economic impact of birth defects on families, society and the healthcare system is significant. Inpatient hospitalization costs associated with birth defects for children and adults with birth defects in the US in 2013 was $22.9 billion, which was 3% of all hospitalizations and 5% of total hospital costs. Children who survive infancy with a major birth defect have a high risk of other chronic short- and long-term health conditions and diminished quality of life. Although birth defects pose a significant public health challenge, public heath efforts to prevent most birth defects are limited. About 70% of cases of birth defects have unknown causes but are thought to arise from complex interactions between environmental and genetic factors. Thus, studies are needed to identify risk factors that can be modified to ultimately prevent birth defects. The long-term goal of our research is to determine the etiology birth defects and long-term health effects of teratogens and birth defects on maternal, and child health and development. The overall objective of this proposal is to elucidate the multifactorial etiology of structural birth defects. The rationale for this project is that the Centers for Disease Control and Prevention launched 2 multisite, population-based, case-control studies, the National Birth Defects Prevention Study (NBDPS), which ended in 2013 and the Birth Defects STudy to Evaluate Pregnancy exposureS (BD-STEPS) which began in 2014. The Arkansas Center for Birth Defects Research and Prevention, a site in the NBDPS for 16 years and a site in BD STEPS for 9 years, proposes to attain the objective through 4 specific aims: (1) identify and characterize pregnancies affected by specific birth defects and livebirths without major birth defects to participate as a Center in BD-STEPS; (2) conduct collaborative and local epidemiologic studies using NBDPS, BD-STEPS, and other data sources to identify potentially modifiable risk factors for specific birth defects; (3) conduct collaborative and local genetic and epigenetic studies using genetic data from the NBDPS, BD-STEPS, and other sources to identify genetic or gene-environment factors associated with birth defects; and (4) train and mentor the next generation of research scientists in birth defects epidemiology, implementation, conduct and analysis of population-based research. Our statewide population-based birth defects registry, sole academic health center, sole tertiary pediatric hospital, central health department and diverse high-risk population of reproductive age women, make Arkansas an ideal site for BD-STEPS. Through our continued participation in BD-STEPS, we will maintain a leading role in identifying modifiable risk factors that can be used to develop public health strategies to prevent birth defects.

项目概要/摘要 在美国，百分之三的活产婴儿患有严重的结构性出生缺陷。情感上、心理上 出生缺陷对家庭、社会和医疗保健系统的经济影响是巨大的。住院病人 2013 年美国患有出生缺陷的儿童和成人与出生缺陷相关的住院费用为 229 亿美元，占所有住院治疗的 3%，占医院总费用的 5%。幸存于婴儿期的儿童 患有严重先天缺陷的人患其他慢性短期和长期健康状况的风险很高，并且患病率降低 生活质量。尽管出生缺陷构成了重大的公共卫生挑战，但公共卫生部门仍努力预防出生缺陷 大多数出生缺陷都是有限的。大约 70% 的出生缺陷病例原因不明，但被认为是存在的 来自环境和遗传因素之间复杂的相互作用。因此，需要进行研究来识别风险 可以改变这些因素以最终预防出生缺陷。我们研究的长期目标是确定 出生缺陷的病因以及致畸剂和出生缺陷对孕产妇和儿童的长期健康影响 健康与发展。该提案的总体目标是阐明该病的多因素病因学 结构性出生缺陷。该项目的基本原理是疾病控制和预防中心 启动了两项多地点、基于人群的病例对照研究，即国家出生缺陷预防研究 (NBDPS)，于 2013 年结束，以及评估妊娠暴露的出生缺陷研究 (BD-STEPS) 该项目始于 2014 年。阿肯色州出生缺陷研究和预防中心是 NBDPS 的一个网站， 16 年和 BD STEPS 中的一个站点 9 年，建议通过 4 个具体目标来实现该目标：(1) 确定 并描述受特定出生缺陷影响的妊娠和无重大出生缺陷的活产，以 作为中心参与 BD-STEPS； (2) 使用 NBDPS 进行协作和当地流行病学研究， BD-STEPS 和其他数据源，以确定特定出生缺陷的潜在可改变风险因素； (3) 使用来自 NBDPS、BD-STEPS 的遗传数据进行协作和本地遗传和表观遗传研究， 以及其他来源来识别与出生缺陷相关的遗传或基因环境因素； (4) 训练和 指导下一代出生缺陷流行病学、实施、行为和 基于人群的研究分析。我们的全州人口出生缺陷登记处，唯一的学术机构 卫生中心、唯一的三级儿科医院、中央卫生部门和不同的高危人群 育龄女性，使阿肯色州成为 BD-STEPS 的理想地点。通过我们的持续参与 BD-STEPS，我们将在识别可改变的风险因素方面保持主导作用，这些因素可用于发展公众 预防出生缺陷的健康策略。