Genetic Counseling for Congenital Heart Disease

When a child is born with a congenital heart defect, parents often ask:

“Why did this happen?”

“Could it happen again in our family?”

People with congenital heart disease may ask similar questions when they think about having children. Genetic counseling can help explain the chance of CHD occurring again in a family and provide family planning options.

What happens during genetic counseling?

Genetic counseling can help adults with congenital heart disease understand the chance that their children could have a heart defect. The risk depends on the type of heart, defect, family history and, when known, it’s genetic cause.

During the visit, a genetic counselor or other genetics professional will ask about your medical and family health history. They may also do a physical exam. Genetic testing may help identify a genetic cause or contributor to a heart defect. In some cases, testing other family members may also help, especially if they have congenital heart disease.

Who should have genetic counseling?

Genetic counseling may help anyone with a congenital heart defect who wants to learn more about:

• Whether there may be a genetic cause or contributor to their heart defect
• Whether their children could also have a heart defect

It may be helpful for both men and women with congenital heart disease. The chance of having a child with a heart defect is higher when a parent has congenital heart disease.

Genetic counseling may be especially helpful if:

• Other family members have heart defects
• You or a family member has other birth defects or signs of a genetic condition

When is the best time to have genetic counseling?

Genetic counseling before pregnancy can help you learn:

• The chance of having a child with a congenital heart defect
• Whether you may benefit from genetic or other testing

If you’re already pregnant, genetic counseling can still help. It can explain your options and what to expect.

During pregnancy

If a genetic condition is known or suspected to be associated with your heart defect, genetic testing during pregnancy may help determine whether the baby inherited the genetic condition.

Depending on your family history and other risk factors, your healthcare team may recommend a fetal echocardiogram. A fetal echocardiogram is a specialized ultrasound that provides detailed pictures of the baby’s heart.

A pediatric cardiologist with special training in fetal and congenital heart disease performs or interprets the test.