Birth Defects Study To Evaluate Pregnancy exposureS

描述(由申请人提供)：仅在美国，每100个婴儿中就有3个出生时患有结构性畸形。这些出生缺陷是导致全国和全球婴儿死亡的主要原因。患有出生缺陷而存活下来的儿童往往生活质量下降，并造成巨大的社会和经济负担。尽管出生缺陷是一个重大的公共卫生问题，但临床和公共卫生努力预防大多数 出生缺陷是不存在的。缺乏关于大多数非综合征性出生缺陷病因的证据是建立预防计划的主要障碍。1997年，创建了国家出生缺陷预防研究(NBDPS)，以调查这些复杂的病因。随着NBDPS的逐步淘汰，疾控中心在NBDPS调查结果的基础上创建了一项新的倡议-出生缺陷研究，以评估怀孕暴露(BD-STEPS)。阿肯色州出生缺陷研究和预防中心是NBDPS的16年参与者，致力于了解出生缺陷的原因，并欢迎有机会继续为有助于制定有效预防战略的证据基础做出贡献。我们处于有利地位，可以在阿肯色州中心的基础上，通过确定孕妇在怀孕早期的暴露情况，可能适合于早期预防。阿肯色州中心的长期目标是预防或显著减少出生缺陷的发生。因此，我们建议通过参与BD-STEPS确定可以修改的早期妊娠暴露，以减少选定的出生缺陷的发生；通过支持从NBDPS和BD-STEPS参与者收集的生物样本的高通量基因组和表观基因组分析，利用增加CDC资金的机构和外部资金，发现导致出生缺陷的基因-环境交互作用；通过在数据分析、手稿准备和其他研究相关活动中培训和指导初级研究人员，帮助发展未来一代的出生缺陷研究人员。通过我们的研究，我们将在制定预防出生缺陷的临床和公共卫生战略方面保持领导地位。

DESCRIPTION (provided by applicant): 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.