Birth Defects Study To Evaluate Pregnancy exposureS

项目总结/摘要 仅在美国，每100个婴儿中就有3个出生时患有结构性畸形。这些先天缺陷 是导致全国和全球婴儿死亡的主要原因。患有先天缺陷的儿童通常 生活质量下降，造成巨大的社会和经济负担。虽然出生 缺陷造成了重大的公共卫生问题，临床和公共卫生努力，以防止大多数出生缺陷 并不存在关于大多数非综合征性出生缺陷的病因学缺乏证据，这是一个主要的问题。 建立预防计划的障碍。1997年，国家出生缺陷预防研究（NBDPS） 来研究这些复杂的病因随着NBDPS的逐步淘汰，CDC已经创建了一个 基于NBDPS调查结果的新举措-评估妊娠缺陷的出生缺陷研究（BD- 步骤）。阿肯色州出生缺陷研究和预防中心是NBDPS的参与者， 多年来，致力于了解出生缺陷的原因，并欢迎有机会继续 有助于建立证据基础，促进制定有效的预防战略。我们清楚地 定位于建立在阿肯色州中心的基础上， 怀孕可能会受到早期预防。阿肯色州中心的长期目标是防止 或显着减少出生缺陷的发生。因此，我们建议， 可通过参与以下活动进行调整以减少选定出生缺陷发生率的暴露： BD-STEPS;通过支持高通量发现导致出生缺陷的基因-环境相互作用 从NBDPS和BD-STEPS参与者收集的生物样品的基因组和表观基因组分析 利用机构和校外资金，增加疾病预防控制中心的资金，帮助发展未来几代出生- 通过培训和指导初级研究人员进行数据分析，手稿准备， 其他研究相关活动。通过我们的研究，我们将在建立临床和 预防出生缺陷的公共卫生战略。

PROJECT SUMMARY/ABSTRACT Three out of every 100 babies are born with a structural malformation in the US alone. These birth defects are a leading cause of infant mortality, nationally and globally. Children who survive with birth defects often experience a diminishing quality of life and impose a substantial social and economic burden. Although birth defects pose a significant public health problem, clinical and public heath efforts to prevent most birth defects do not exist. The lack of evidence regarding etiology of most nonsyndromic birth defects represents a major barrier in establishing prevention programs. In 1997, the National Birth Defects Prevention Study (NBDPS) was created to investigate these complex etiologies. With the phasing out of the NBDPS, the CDC has created a new initiative building on the NBDPS findings - Birth Defects Study to Evaluate Pregnancy exposureS (BD- STEPS). The Arkansas Center for Birth Defects Research and Prevention, a participant in the NBDPS for 16 years, is dedicated to understanding the causes of birth defects and welcomes the opportunity to continue to contribute to an evidence base that will facilitate development of effective prevention strategies. We are well positioned to build on the foundation of the Arkansas Center by identifying maternal exposures in early pregnancy that may be amenable to early prevention. The long-term goal of the Arkansas Center is to prevent or significantly reduce the occurrence of birth defects. We propose, therefore, to identify early pregnancy exposures that may be modified to decrease the occurrence of selected birth defects by participating in the BD-STEPS; discover gene-environment interactions that lead to birth defects by supporting high-throughput genomic and epigenomic analyses of biological samples collected from NBDPS and BD-STEPS participants using institutional and extramural funds that augment CDC funding; help develop future generations of birth- defect researchers by training and mentoring junior researchers in data analysis, manuscript preparation, and other study-related activities. Through our studies, we will maintain a leading role in establishing clinical and public health strategies to prevent birth defects.