When a child is born with a congenital heart defect, two of the most common questions are "Why did this occur?" and "Will it happen again in our family?" These same questions come up when a person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your concerns about starting a family.
What happens in genetic counseling?
The goal of genetic counseling for adults with congenital heart disease is to determine the likelihood that their children will also have a heart defect. The chance for a heart defect to happen again in a family depends on its cause.
In your genetics evaluation the genetic counselor and geneticist will try to determine the cause of your heart defect by looking at your medical and family history and doing a physical exam. Genetic testing on a sample of your blood may also help determine the cause. Sometimes it's helpful to obtain blood samples for genetic testing from other members of your family, especially if they also have a heart condition.
Who should have genetic counseling?
Genetic counseling can be helpful for anyone with a heart defect who wants to know the cause of it or the chances that their children will have a heart defect. Genetic counseling is relevant for both men and women with congenital heart defects. The chance for children to have a heart defect rises when either the mother or the father has a heart defect.
Genetic counseling is particularly important if others in your family have heart defects, or if you or someone in your family has other birth defects, deafness, psychiatric conditions, liver disease or learning problems.
When is the best time to have genetic counseling?
The best time to have genetic counseling is before a pregnancy. That way you'll know the risks beforehand. You'll also know if any special testing is needed in the pregnancy. If you’re planning to have a child and haven't had genetic counseling yet, it can still be helpful to get it during the pregnancy.
During the pregnancy
If a genetic cause is found for your heart defect, you may be able to do genetic testing during the pregnancy to see whether the baby inherited that genetic condition. In most cases, it's a good idea to have a fetal echocardiogram done by a pediatric cardiologist who is an expert in imaging congenital heart disease.