Utah Center for Birth Defects Research and Prevention

犹他州出生缺陷研究与预防中心

• 批准号: 8398907
• 负责人: Marcia Lynn Feldkamp
• 金额: $ 58.38万
• 依托单位: UTAH STATE DEPARTMENT OF HEALTH
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-12-01 至 2014-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8398907
• 关键词: Utah; Center; Birth; Defects; Research

DESCRIPTION (provided by applicant): Birth defects affect 1 in every 33 babies at birth, and up to 1 in every 20 children by the time they are five years of age. The long term goal is to prevent birth defects and reduce their adverse consequences. Because most birth defects still have no identifiable cause, the Centers for Disease Control and Prevention established the National Birth Defects Prevention Study (NBDPS) in 1997. This population-based case control study represents a nationwide effort to identify causes of birth defects as a basis for primary prevention. The Utah Center for Birth Defects Research and Prevention joined this study in 2002. The Utah center uses the Utah Birth Defect Network, a population-based surveillance program, as the basis for identifying babies with birth defects. Building on the established infrastructure developed in Utah since joining the NBDPS, the overall objectives of this proposal are to expand the resource of epidemiological information and genetic data on birth defects, and to extend the Utah center's investigations on how environmental and genetic factors, alone or in combination, influence the risk for birth defects. The specific aims are to: (1) Ascertain and recruit a minimum of 300 eligible infants with birth defects ("cases") and 100 infants without birth defects ("controls") each year. Cases will be ascertained from the statewide population-based surveillance program. All cases will undergo expert review by a clinical geneticist. Healthy live born controls will be selected as a random sample of Utah's newborns from statewide birth certificates. (2) Interview study participants (i.e., mothers) and collect biological samples (DNA) from each family "trio" (mother, father, and baby). Mothers willing to participate will be interviewed using a computer-assisted telephone interview. If consent is given, DNA from family trios will be obtained from buccal (cheek cell) swabs, and additional DNA from newborn blood spots. (3) Analyze and disseminate surveillance data, identify environmental risk factors for birth defects, and create and initiate projects to find genetic risk factors for birth defects. In addition to analyzing and disseminating data on birth defect surveillance on an ongoing basis, the Utah center will develop and complete epidemiological and genetic studies on risk factors for birth defects using the collective NBDPS resource. The findings from the proposed project will provide the basis for developing strategies aimed at modifying risk factors for birth defects in the population. In doing so, the project will contribute to reducing the burden of birth defects and improving the chance that babies are born healthy, without birth defects.

描述（由申请人提供）：出生缺陷影响每33个婴儿中的1个，到5岁时，每20个儿童中就有1个。长期目标是预防出生缺陷并减少其不良后果。由于大多数出生缺陷仍然没有可识别的原因，疾病控制和预防中心于1997年建立了国家出生缺陷预防研究（NBDPS）。这项以人群为基础的病例对照研究代表了一项全国性的努力，以确定出生缺陷的原因作为一级预防的基础。犹他州出生缺陷研究和预防中心于2002年加入了这项研究。犹他州中心使用犹他州出生缺陷网络，一个基于人口的监测计划，作为识别出生缺陷婴儿的基础。在犹他州加入NBDPS以来建立的基础设施的基础上，该提案的总体目标是扩大出生缺陷的流行病学信息和遗传数据资源，并扩展犹他州中心关于环境和遗传因素如何单独或组合影响出生缺陷风险的调查。具体目标是：（1）每年确定并招募至少300名合格的出生缺陷婴儿（“病例”）和100名无出生缺陷婴儿（“对照”）。病例将从全州以人口为基础的监测计划中确定。所有病例将由临床遗传学家进行专家审查。将从全州出生证明中选择健康活产对照作为犹他州新生儿的随机样本。(2)采访研究参与者（即，母亲），并从每个家庭的“三人组”（母亲，父亲和婴儿）收集生物样本（DNA）。愿意参加的母亲将通过计算机辅助电话采访。如果获得同意，将从口腔（脸颊细胞）拭子中获得家庭三人组的DNA，并从新生儿血斑中获得额外的DNA。(3)分析和传播监测数据，确定出生缺陷的环境风险因素，并创建和启动项目，以找到出生缺陷的遗传风险因素。除了持续分析和传播出生缺陷监测数据外，犹他州中心还将利用NBDPS的集体资源，开发和完成关于出生缺陷风险因素的流行病学和遗传学研究。拟议项目的调查结果将为制定旨在改变人口出生缺陷风险因素的战略提供依据。通过这样做，该项目将有助于减少出生缺陷的负担，提高婴儿健康出生的机会，没有出生缺陷。

项目成果

Chlamydia trachomatis IgG3 seropositivity is associated with gastroschisis.

• DOI: 10.1038/jp.2015.115
• 发表时间: 2015-11
• 期刊: Journal of perinatology : official journal of the California Perinatal Association
• 作者: Feldkamp ML;Enioutina EY;Botto LD;Krikov S;Byrne JL;Geisler WM
• 通讯作者: Geisler WM