NICHD-California Birth Defects Study

Eunice Kennedy Shriver National Institute Of Child Health & Human Development

Investigators

Linked publications & trials

Abstract

We have expanded our collaboration with The California Department of Health to include the NBDPS. This has enabled us to study rare defects such as bladder exstrophy and sacral agenesis. Our exome sequencing studies are among the largest ever done on these defects. Our work has provided new possible links to genomic variants and suggested mechanisms for basic science investigations. Our future investigations will focus on rare and very rare defects identified via the California monitoring system. Samples from residual newborn screening filter paper have been exome sequenced and will be analyzed. Because some of these defects are extremely rare, the California collaboration with its extremely large number of births provides an almost unique opportunity to obtain cases. Although filter paper is not the ideal source of DNA for analysis, a majority of the samples, including some older samples, are producing satisfactory results in the whole exome sequencing process. We anticipate analyzing data on additional rare defects in the future.