Imbalances and misspellings in the genetic material are a common cause of birth defects. We have found that there are many cases where a child with a heart defect has genetic abnormalities that were missed on clinical testing but picked up when we used a higher resolution research test. Researchers at Baylor College of Medicine are testing a new way to find whether a piece of the genetic material is lost, duplicated, or misspelled.

We will see if we can find genes that cause heart defects. We will check thousands of small pieces of the genetic material and will compare children with their parents. If there is more than one affected person in family, we might be interested in enrollment of grandparents, aunts and uncles as well.

Participants are asked to provide a saliva sample at the time of enrollment, and a brief medical history and family history will be obtained.