The CARE study

etic testing called whole exome/genome sequencing, we now have the ability to analyze all of a person’s genetic information to help target and identify a genetic diagnosis. There have been several previous studies which have had success with using whole exome and whole genome sequencing to quickly and effectively identify genetic causes of birth defects like heart defects. One of the reasons for identifying underlying genetic causes of birth defects is to help inform families about reproductive and recurrence risks. We are enrolling children with various birth defects including gastrointestinal defects (eg: gastroschisis, omphalocele, imperforate anus etc.), neural tube defects and craniofacial defects. To enroll in the study, we will collect a saliva/blood sample from a child affected with a birth defect and both biological parents as well. We will also collect some details on the child's medical history. The purpose of this is to use the information gathered to correlate the findings with the natural history of the birth defect. Our hope is that by learning more about these correlations, we will be able to help families be better prepared and get a clearer sense of what their child's medical care will entail when they are diagnosed with a birth defect.