Massachusetts Center for Birth Defects Research and Prevention

马萨诸塞州出生缺陷研究与预防中心

• 批准号: 8398910
• 负责人: Marlene Anderka
• 金额: $ 58.04万
• 依托单位: MASSACHUSETTS STATE DEPT OF PUB 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 2013-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8398910
• 关键词: Massachusetts; Center; Birth; Defects; Research

DESCRIPTION (provided by applicant): The MA Center for Birth Defects Research and Prevention (MCBDRP) proposes to: continue participation in the National Birth Defects Prevention Study and pilot new methods; perform environmental and genetic etiologic research studies in our areas of particular expertise; utilize the unique MA Pregnancy to Early Life Longitudinal database to conduct follow-up research on children with birth defects; and pilot test methods to translate research findings into prevention messages. The MA Center will continue its leadership role on medication use in pregnancy and related risks. As NBDPS pilot projects, the MCBDRP will: validate CATI responses on use of assisted reproductive technology; test novel ways to assess variation in time and space clustering of gastroschisis; assess whether a medication identification booklet improves the reliability of maternal medication responses; and analyze first trimester serum screening results to examine hypotheses related to birth defects etiology. In year one, MCBDRP will complete 5 etiologic research projects that cover medically significant and/or common risk factors: 1) Relation of non-steroidal anti-inflammatory drugs to the risk of birth defects (NSAIDs are frequently used by pregnant women, so even a small increased risk for birth defects could be important because of the number of potentially affected offspring); 2) Vasoactive medications and vascular disruption defects (Findings will be important because these medications are popular and vascular disruption pathogenesis is poorly understood); 3) Drugs for nausea and vomiting of pregnancy and risk of congenital heart defects (If drugs used as a remedy for such a common condition cause birth defects, an opportunity for sizable prevention exists); 4) Glycemic load and non-neural tube defects (Dietary patterns have changed over the past decades, with many persons replacing consumption of proteins and fats with carbohydrates; it is therefore critical to identify the possible impact of such high-glycemic diets on risks of birth defects); and 5) De novo copy number variants and nonsyndromic conotruncal heart defects (Studies of this type of genetic abnormality represents a powerful new tool in studies of risk factors for birth defects that will further understanding of mechanisms of embryologic development that lead to this and other birth defects). Additional projects that will continue beyond year 1 include a study of birth defect risks associated with medications that contain the endocrine-disruptor phthalates. This project will also serve as a model for assessing risk associated with inactive ingredients in medications. Epidemiologic studies of other relevant medication and environmental exposures will be conducted, as will clinical descriptive studies of heart, limb, and diaphragm defects, of which MA has particular clinical expertise. MCBDRP will also expand genetic work to: 1) identify de novo copy number variants associated with other birth defects; and 2) identify pharmacogenetic determinants of birth defects. Finally, the MCBDRP will utilize and evaluate, where possible, multiple communication pathways to raise awareness of NBDPS findings and their implications.

描述（申请人提供）：MA出生缺陷研究和预防中心（MCBDRP）建议：继续参与国家出生缺陷预防研究并试点新方法;在我们的专业领域进行环境和遗传病因学研究;利用独特的MA妊娠至早期生命纵向数据库对出生缺陷儿童进行随访研究;以及将研究结果转化为预防信息的试点测试方法。MA中心将继续在妊娠药物使用和相关风险方面发挥领导作用。作为NBDPS试点项目，MCBDRP将：验证使用辅助生殖技术的CATI反应;测试评估腹裂时间和空间聚集变化的新方法;评估药物识别手册是否提高了母亲药物反应的可靠性;分析妊娠早期血清筛查结果以检查假设 与出生缺陷病因学有关。在第一年，MCBDRP将完成5个病因学研究项目，涵盖医学上重要和/或常见的风险因素：1）非甾体抗炎药与出生缺陷风险的关系（孕妇经常使用NSAID，因此即使出生缺陷的风险增加很小也很重要，因为可能受影响的后代数量很大）; 2）血管活性药物和血管破裂缺陷（发现将是重要的，因为这些药物很受欢迎，血管破裂的发病机制知之甚少）; 3）妊娠恶心呕吐和先天性心脏病风险的药物（如果用于治疗这种常见疾病的药物导致出生缺陷，则存在相当大的预防机会）; 4）糖脂负荷和非神经管缺陷（过去几十年来，饮食模式发生了变化，许多人用碳水化合物取代了蛋白质和脂肪的消费;因此，确定这种高血糖饮食对出生缺陷风险的可能影响至关重要）;和5）从头拷贝数变异和非综合征性圆锥动脉干心脏缺陷（对这种类型的遗传异常的研究是研究出生缺陷危险因素的一个强有力的新工具，将进一步了解导致出生缺陷的胚胎发育机制。其他出生缺陷）。 将在第一年之后继续进行的其他项目包括一项与下列因素有关的出生缺陷风险研究： 含有内分泌干扰物邻苯二甲酸盐的药物。该项目还将成为 评估与药物中的非活性成分相关的风险。将进行其他相关药物和环境暴露的流行病学研究，以及心脏、肢体和膈肌缺损的临床描述性研究，其中MA具有特殊的临床专业知识。MCBDRP还将扩大遗传学工作，以：1）确定与其他出生缺陷相关的从头拷贝数变异; 2）确定出生缺陷的药物遗传学决定因素。最后，MCBDRP将在可能的情况下利用和评估多种沟通途径，以提高对NBDPS调查结果及其影响的认识。

项目成果

Vasoactive exposures during pregnancy and risk of microtia.

怀孕期间的血管活性暴露和小耳症的风险。

• DOI: 10.1002/bdra.23101
• 发表时间: 2013
• 期刊: Birth defects research. Part A, Clinical and molecular teratology
• 作者: VanBennekom,CarlaM;Mitchell,AllenA;Moore,CynthiaA;Werler,MarthaM;NationalBirthDefectsPreventionStudy
• 通讯作者: NationalBirthDefectsPreventionStudy