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

项目总结/摘要 在美国，3%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、社会和卫生保健系统的经济影响是显著的。住院 2013年，美国出生缺陷儿童和成人的出生缺陷相关住院费用为 229亿美元，占所有住院治疗的3%和医院总成本的5%。婴儿期存活的儿童 患有重大出生缺陷的儿童患其他慢性短期和长期健康状况的风险很高， 生活质量虽然出生缺陷构成了重大的公共卫生挑战，但公共卫生部门努力预防 大多数出生缺陷是有限的。大约70%的出生缺陷病例的原因不明，但被认为是由于 来自环境和遗传因素之间复杂的相互作用。因此，需要进行研究以确定风险 这些因素可以被修改，以最终防止出生缺陷。我们研究的长期目标是确定 出生缺陷的病因学及致畸物和出生缺陷对母婴的长期健康影响 健康和发展。本提案的总体目标是阐明多因素病因学， 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2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），该计划于2013年结束，出生缺陷研究评估妊娠缺陷（BD-STEPS） 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年和一个地点在屋宇署STEPS 9年，建议通过4个具体目标实现目标：（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， 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的风险因素;（3） 使用来自NBDPS，BD-STEPS， 和其他来源，以确定与出生缺陷相关的遗传或基因-环境因素;以及（4）培训和 指导下一代研究科学家在出生缺陷流行病学，实施，行为和 分析基于人口的研究。我们的全州人口出生缺陷登记处，唯一的学术 卫生中心、唯一的三级儿科医院、中央卫生部和各种高危人群， 育龄妇女，使阿肯色州成为BD-STEPS的理想场所。通过我们持续参与 BD-STEPS，我们将在确定可用于开发公共卫生的可改变的风险因素方面发挥主导作用。 预防出生缺陷的卫生战略。

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.