Families often share many things – from common interests to celebrating life’s milestones. But families also can share a higher risk for certain medical conditions. It’s important to know your family health history, because some medical conditions and birth defects that run in the family may affect your pregnancy and your baby.
Birth defects are structural changes present at birth that can affect almost any part of the body. They may affect how the body looks, works or both. Birth defects can cause problems in overall health, how the body develops or how the body works.
The most common types of birth defects are congenital heart defects (also called CHDs). CHDs are heart conditions that a baby is born with. They can affect the heart’s shape or how it works or both. CHDs can be mild or serious. The most serious types of CHDs are called critical CHDs. If you, your partner or someone in your families has a heart defect, your baby may be at higher risk for having one, too.
About 1 in 100 babies is born with a congenital heart defect. The risk of your baby having a CHD is three times higher if you, your partner, or one of your other children has a CHD.
What should you do if you or someone in your family has a congenital heart defect?
If you, your partner, one of your children or a close family member has heart defect, here are some things you can do:
- See a genetic counselor before you get pregnant. This is a person who is trained to help you understand about genes, birth defects and other medical conditions that run in families, and how they can affect your health and your baby's health. Your health care provider can help you find a genetic counselor, or you can contact the National Society of Genetic Counselors.
- Talk to your health care provider about your family health history. Your provider may check your baby for heart defects during pregnancy using a test called fetal echocardiogram (also called fetal echo). This test uses ultrasound to make a picture of your baby’s heart while still in the uterus (womb). Ultrasound uses sound waves and a computer screen to show a picture of your baby inside the womb.
What does a fetal echocardiogram check for?
A fetal echocardiogram checks for any major problems with the heart’s pumping and its parts, like the walls, valves and blood vessels. You can have this test at about 18 to 24 weeks of pregnancy. A fetal echocardiogram may not find all heart defects. Sometimes CHDs are found after birth or during the first few months of life. Mild heart defects may not be found until children are older.
Are babies checked for CHDs at birth?
Your baby is tested for critical CHDs as part of newborn screening before she leaves the hospital after birth. Newborn screening checks for serious but rare and mostly treatable health conditions at birth.
Babies are screened for critical CHDs with a simple test called pulse oximetry (also called pulse ox). This test checks the amount of oxygen in your baby’s blood. Low levels of oxygen can be a sign of a heart defect. Pulse oximetry uses a pulse oximeter machine with sensors that are placed on your baby’s skin. The test is painless and only takes a few minutes. Pulse oximetry can find many but not all critical CHDs. Your baby’s provider also may find a heart defect by doing a physical exam.
If tests find that your baby has a critical CHD, she can get early care and treatment to prevent more serious health problems. Your baby’s provider can refer your baby to a pediatric cardiologist for treatment. This is a doctor who treats babies and children with heart conditions.
Learn more about congenital heart defects.