Genetic Factors in Birth Defects

该研究目前处于开发阶段。目前正在纽约州招募工作人员，该方案正在由NICHD、纽约州卫生部和NHGRI的调查人员制定。下一阶段将于2008财政年度开始，从先天性畸形登记处找出有重大出生缺陷的病例，并选择合适的对照对象。一旦完成这项工作，登记处的数据将与该州的新生儿筛查规划联系起来，以确定受试者的滤纸样本。将从存储中取出滤纸样本，然后开始DNA提取和等分过程。同时，研究人员将确定感兴趣的候选基因，并选择变异单核苷酸多态性（SNPs）进行研究。

This study is currently in the development phase. Staff are being recruited in New York State and the protocol is being developed by investigators from NICHD, The New York State Dept. of Health, and NHGRI. The next phase, which will begin in fiscal year 2008, is to identify cases with the major birth defects of interest from the Congenital Malformations Registry and select suitable control subjects. Once this is accomplished, data from the Registry will be linked with the State's newborn screening program to identify filter paper samples for the subjects. The filter paper samples will be taken from storage and the process of DNA extraction and aliquotting will begin. Concurrently, the investigators will be identifying candidate genes of interest and selecting variant single nucleotide polymorphisms (SNPs) for study.