NICHD-California Birth Defects Study

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We have expanded our collaboration with The California Department of Health to include Stanford University, the New York State Department of Health and the University of Iowa. This study has grown since additional funding has become available to include other rare, cardiac and non-cardiac defects. Because of the very large number of births in California, we have been able to identify cases of very rare defects for investigation. Because of our work in New York State, we also should be able to identify subjects from NY to verify findings from our investigations in California. We have been granted permission to use the residual blood spots from newborn screening. We have identified cases with rare defects of interest. Vital records data and samples have been acquired and sent to the study laboratory for whole exome sequencing. There as been a serious delay in the sequencing because the laboratory at the University of Minnesota was shut down due to the corona virus pandemic. Now the laboratory is moving forward again and many samples have been whole exome sequenced. Under our task order contract the geneticists at the University of Minnesota are cleaning, editing and performing the initial analysis of the whole exome sequencing data. Results for the first defects are now being analyzed at NICHD. Because some of these defects are extremely rare, we have 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 excellent results in the whole exome sequencing process.