Birth Defects Study To Evaluate Pregnancy exposureS

评估妊娠暴露的出生缺陷研究

• 批准号: 8911697
• 负责人: CHARLOTTE A HOBBS
• 金额: $ 80万
• 依托单位: ARKANSAS CHILDREN'S HOSPITAL RES INST
• 依托单位国家: 美国
• 财政年份: 2013
• 资助国家: 美国
• 起止时间: 2013-09-01 至 2018-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8911697
• 关键词: Birth; Defects; Study; Evaluate; Pregnancy

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.

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。这些出生缺陷是全国和全球婴儿死亡的主要原因。患有先天缺陷的儿童往往生活质量下降，并造成沉重的社会和经济负担。尽管出生缺陷构成了重大的公共卫生问题，但临床和公共卫生部门努力预防大多数出生缺陷 不存在出生缺陷。大多数非综合征性出生缺陷病因学证据的缺乏是制定预防计划的主要障碍。 1997 年，国家出生缺陷预防研究 (NBDPS) 成立，旨在调查这些复杂的病因。随着 NBDPS 的逐步取消，CDC 在 NBDPS 调查结果的基础上制定了一项新举措 - 评估妊娠暴露的出生缺陷研究 (BD-STEPS)。阿肯色州出生缺陷研究和预防中心已参加 NBDPS 16 年，致力于了解出生缺陷的原因，并欢迎有机会继续为证据基础做出贡献，以促进有效预防策略的制定。我们处于有利地位，可以在阿肯色中心的基础上进一步发展，确定孕早期可能适合早期预防的孕产妇暴露情况。阿肯色中心的长期目标是预防或显着减少出生缺陷的发生。因此，我们建议通过参与 BD-STEPS 来确定可以修改的早期妊娠暴露，以减少特定出生缺陷的发生；使用增加 CDC 资金的机构和外部资金，支持对从 NBDPS 和 BD-STEPS 参与者收集的生物样本进行高通量基因组和表观基因组分析，发现导致出生缺陷的基因-环境相互作用；通过在数据分析、手稿准备和其他研究相关活动方面培训和指导初级研究人员，帮助培养未来几代出生缺陷研究人员。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策略方面保持主导作用。