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Congenital Heart Defects - 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:

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The mother or father has a congenital heart defect.
During her pregnancy the mother has been exposed to certain chemicals.
During her pregnancy the mother has taken medicines that may increase the risk that her 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 in 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.
The mother has diabetes or phenylketonuria.
The mother or father has a congenital heart defect.

WebMD Medical Reference from Healthwise

Last Updated: October 12, 2009

This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.