Exams and Tests
Testing for congenital heart defects can be done while a woman is pregnant or after a baby's birth.
A fetal echocardiogram, which can be done as early as 16 weeks of pregnancy, is the best test before a baby's birth. The test uses sound waves to take pictures of the fetal heart. The fetal echocardiogram may be done if:
- You have a family history of heart defects.
- You have been exposed to certain chemicals during your pregnancy.
- You have taken medicines during your pregnancy that may increase the risk that your baby (fetus) will develop heart defects.
- A fetal ultrasound shows a problem with the heart. This routine test is often done during pregnancy. Fetal ultrasound can show a problem with the heart's structure, but it may not show some kinds of heart defects.
Many congenital heart defects are found within the first month after a baby is born. To diagnose a heart defect, a doctor will ask questions about the baby's symptoms, appetite, and other habits and give the baby a physical exam. An echocardiogram and possibly a heart catheterization (angiogram) may be needed.
More tests may be needed, depending on the symptoms and type of defect. These may include:
- Chest X-ray, to check the size and blood vessels of the heart.
- Electrocardiogram (ECG, EKG), to check for irregular heart rhythms (arrhythmias) that may be related to a congenital heart defect.
- Stress test (exercise electrocardiogram), which may be done around the time the child starts school to find out how much exercise your child can do.
- Blood tests, to check for anemia, polycythemia, or levels of certain chemicals in the blood.
- Oximetry, to see whether oxygen-poor blood is being pumped to the body. This test would be done if your baby has severe difficulty breathing or has a bluish tint (cyanosis) to the skin, lips, and nail beds. The amount of oxygen in the blood can also be measured by an arterial blood gas (ABG) or a transcutaneous monitor (in infants).
- MRI of the heart and major blood vessels, to view abnormal heart structures and/or blood vessels. If this test is done, your child will probably be given medicine to make him or her relax and sleep during the test.
Early Detection
In families with a history of congenital heart defects, genetic testing may be done.
A baby may be checked for congenital heart defects if the mother:
- Had rubella during pregnancy.
- Has diabetes or phenylketonuria.
- Has a congenital heart defect.