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Congenital Heart Disease Diagnosis: What's Considered?

    Congenital Heart Disease Diagnosis: What's Considered?

    During a regular ultrasound of the unborn child, congenital heart disease may be initially detected. A specialized ultrasound called fetal echocardiography may then be performed at roughly 18 to 22 weeks of pregnancy to try to establish the precise congenital heart disease diagnosis.

    If there is a family history of congenital heart disease or if there is a higher risk, this may also be done. High-frequency sound waves are utilized in echocardiography, a form of ultrasound scan, to produce an image of the heart. However, utilizing fetal echocardiography to diagnose heart abnormalities, especially mild ones, is not always possible.

    Congenital heart disease diagnosis upon birth

    If a baby exhibits some of the telltale signs or symptoms of congenital heart disease, like a blue tint to the skin or lips (cyanosis), it may be feasible to make the diagnosis of congenital heart disease quickly after the infant is born.

    The newborn physical examination includes viewing your baby, checking their pulse, and listening to their heart using a stethoscope. Heart murmurs are occasionally detected. Your baby’s heart will be checked as part of this checkup.

    However, some problems don’t manifest symptoms for months or even years. If you or your child exhibit symptoms, you should visit your doctor. Further testing can often assist to confirm or rule out a diagnosis.

    Congenital heart disease diagnosis: Further tests

    Congenital cardiac disease may be identified with further diagnostics, such as the following.


    An echocardiogram is frequently performed to examine the heart’s inside. As a child grows, heart issues that were overlooked during fetal echocardiography may occasionally be identified.


    A test called an electrocardiogram (ecg) measures the electrical activity of the heart. Electrodes are placed on the arms, legs, and chest, and these electrodes are wired to a device called an ecg recording machine. This displays the electrical signals produced by the heart and indicates how well it is beating.

    Chest X-ray

    A chest x-ray of the heart and lungs can be used to determine whether the heart is larger than normal or if there is an excessive volume of blood in the lungs, both of which could be symptoms of heart disease.

    Pulse oximetry

    A test that assesses the amount of oxygen in the blood is called pulse oximetry. Here a specific sensor that emits light waves is attached to the fingertip, ear, or toe as part of the test, and a computer is attached to the sensor to track how the light waves are absorbed.

    The amount of oxygen in the blood may be immediately determined by analyzing the results since oxygen can impact how light waves are absorbed.

    Cardiac Angiography

    Another procedure used in congenital heart disease diagnosis is an angiography.

    A small, flexible tube known as a catheter is inserted into a blood vessel during the procedure, typically through an artery or vein in the groin, neck, or arm. The catheter is then moved into the heart, guided by x-rays or occasionally a MRI scanner. This allows pressure measurements to be taken in various parts of the heart or lungs. Cardiac catheterization is a helpful procedure for learning more about the precise manner in which the heart pumps blood.

    Another procedure known as an angiography involves injecting a colored dye that is visible on x-rays into the catheter. The dye may be observed as it travels through the heart, allowing the structure and function of each heart chamber, arteries, and lung to be evaluated.

    Because it is performed while under a general anesthetic or a local anesthetic, cardiac catheterization is painless.

    Other Tests

    Besides the above mentioned diagnostics, the doctor may also order other tests, such as cardiac MRI and genetic testing.

    Key Takeaways

    What takes place in congenital heart disease diagnosis? Congenital heart disease may initially be suspected during a routine ultrasound scan of the baby in the womb. A specialized ultrasound, called a fetal echocardiography, may be carried out at around 18 to 22 weeks of the pregnancy to try to confirm the exact diagnosis. Consult your doctors regarding the risk of congenital heart disease in your pregnancy and the proper treatment plan for you.

    Learn more about Congenital Heart Disease here.


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    Congenital heart disease diagnosis, https://www.nhs.uk/conditions/congenital-heart-disease/diagnosis/, Accessed September 1, 2022

    Congenital heart disease, https://www.nhs.uk/pregnancy/related-conditions/existing-health-conditions/congenital-heart-disease/, Accessed September 1, 2022

    Congenital heart disease in adults, https://www.mayoclinic.org/diseases-conditions/adult-congenital-heart-disease/symptoms-causes/syc-20355456, Accessed September 1, 2022

    Heart defects, https://www.cdc.gov/ncbddd/heartdefects/facts.html, Accessed September 1, 2022

    Congenital heart defects, https://medlineplus.gov/congenitalheartdefects.html, Accessed September 1, 2022

    Pregnancy and congenital heart disease, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1370974/, Accessed September 1, 2022

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    Written by Hello Doctor Medical Panel Updated 2 weeks agoMedically reviewed by Lauren Labrador, MD, FPCP, DPCC
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