Diagnosing congenital heart defects (CHDs) early is important for lifelong heart health. CHDs are heart problems that babies are born with. Finding these conditions early allows health care providers to develop the right treatment plan and provide timely care.
Understanding how congenital heart defects are diagnosed can help families make informed decisions and feel more confident about next steps.
Congenital heart defects are often diagnosed during pregnancy. In some cases, a diagnosis may not be confirmed until after a baby is born or even later in childhood or adulthood.
Several tests can help identify heart defects before birth.
A prenatal ultrasound is the most common screening tool for CHDs. A routine ultrasound performed around 18 to 22 weeks of pregnancy may detect heart defects. During the exam, the technician checks the baby’s heart size, shape and structure.
If a heart defect is suspected, a fetal echocardiogram may be recommended. This specialized ultrasound uses sound waves to create detailed images of the baby’s heart and shows how the heart is forming and functioning.
Some congenital heart defects are linked to genetic conditions. Tests such as amniocentesis or chorionic villus sampling may be recommended to check for genetic concerns.
Non-invasive prenatal testing (NIPT) is a blood test that can identify certain genetic conditions that may be associated with CHDs. Blood and genetic tests cannot diagnose a heart defect on their own, but they may signal the need for additional testing.
If a CHD is not detected before birth, it can often be diagnosed after a baby is born or later in life. Diagnostic methods may differ for newborns, children and adults.
Soon after birth, a health care provider examines the baby and listens to the heart with a stethoscope. They look for signs such as a heart murmur, bluish skin (cyanosis) or difficulty breathing.
Pulse oximetry is a simple, painless test that measures oxygen levels in the blood. A sensor placed on the skin, usually on a hand or foot, provides a reading. Low oxygen levels can be a sign of a congenital heart defect.
An echocardiogram uses ultrasound to look inside the heart. It helps specialists see how the heart is working and identify structural problems. This non-invasive test is commonly used to diagnose CHDs in newborns, infants, children and adults and to guide treatment planning.
If early testing suggests a CHD, specialists may order additional tests to confirm the diagnosis and determine the best treatment approach.
An ECG measures the heart’s electrical activity. It helps identify abnormal heart rhythms and other issues related to congenital heart defects. Small sensors are placed on the chest, arms and legs during the test.
A chest X-ray provides images of the heart, lungs and chest bones. It can show the size and shape of the heart and reveal fluid in the lungs, which can occur with certain heart defects.
A cardiac MRI uses magnets and radio waves to create detailed images of the heart. This test provides more information about heart structure and function than an echocardiogram and is especially useful for complex congenital heart defects.
Cardiac MRIs can evaluate blood flow, measure heart chamber size and detect signs of infection, tumors or other heart conditions.
Cardiac catheterization is a more invasive test. A thin tube called a catheter is guided through a blood vessel to the heart. This test allows specialists to measure pressure and oxygen levels and see detailed images of the heart. It is often used to plan surgery or other treatments.
A CT scan uses X-rays to create detailed images of the heart and blood vessels. This test helps specialists better understand complex heart defects and plan care.
Some care teams use 3D heart modeling created from CT or MRI scans. These physical models allow specialists and families to better understand the heart defect and help guide treatment decisions.
Once a congenital heart defect is diagnosed, your health care provider will explain the type of defect, how severe it is and what treatment options are available.
Treatment depends on the type of CHD and overall health. Common treatment options include:
Many children and adults with CHDs require lifelong care. Regular follow-ups with a pediatric or adult cardiologist help monitor heart health and detect changes early. With appropriate care, many people with congenital heart defects live full and active lives.
Learn more about treatment and living with a congenital heart defect.
At Banner Health, heart specialists diagnose and treat a wide range of congenital heart defects, from common conditions to rare and complex cases. Care plans are tailored to each patient’s needs, with coordination across pediatric and adult heart specialists.
Schedule an appointment with a Banner Health heart specialist to learn more about CHD diagnosis and care.
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