Every year, 100,000 babies don't make it to their first birthday because of CHD.
The Expectant Mother's Guide to CHD

What is congenital heart disease or CHD?

CHD is a problem with the structure of the heart that is present at birth. Unlike other common heart problems like coronary artery disease, CHD is not an acquired disease, it is present when the patient is born. There are over 40 different types of CHD – some examples include holes inside the heart, abnormal valves, misplaced vessels, missing ventricles and blocked electrical signals that regulate the heartbeat.

Who is affected by CHD?

Any and all people can be born with a congenital heart defect, CHD does not discriminate based off sex, race, region or any other factor. In fact, 1 out of every 125 people will be born with some type of CHD. While the exact cause is still unknown at this time, certain studies have shown that some defects might have genetic ties.

Why should I be informed about CHD?

  • Because it is the most common birth defect and 32,000 babies in the U.S. will be born with a CHD this year.

  • Because 25% of those babies will need medical intervention in their first year of life.

  • Because it is a lifelong disease that will require cardiac care for the rest of your child’s life.

  • Because 2X more children die from CHD than from all forms of childhood cancers combined.

  • Because an in utero diagnosis can increase the chances of survival and improve patient-doctor counseling.

  • Because 25% of children born with a CHD will need heart surgery or other interventions to survive.

After reading the above, it’s clear why you never want to hear the words, “Your baby has congenital heart disease,” but if your child is 1 out of 125 babies who will be born with CHD, hearing those words sooner rather than later can make a difference in their outcome.

Early detection, or diagnosing the baby in utero, can increase his or her chances of survival. While an early diagnosis is not a cure and won’t prevent CHD from occurring, it will allow physicians and families to create a tailored birth plan that will give the baby the best possible odds to thrive with their condition.

According to Michael D. Quartermain’s publication, Variation in Prenatal Diagnosis of Congenital Heart Disease in Infants, 66% of congenital heart defects are missed by fetal screenings. Let that number sink in for a second… SIXTY-SIX percent. That is an astrologically high number of families who will have to learn the hard way that their baby has a potentially life-threatening disease.

For those with CHD’s that are not diagnosed in utero, symptoms will usually start to develop within a few hours or days after birth. However, in some cases, it can take weeks, months, or even years before the patient knows something is wrong, all the while the defect is causing irreversible damage and added stress on the heart.

We are not okay with this number and something needs to be done. The key is in education, both for the medical professionals who perform fetal screenings on expectant Mothers, and the Mothers themselves.

In our efforts to help those affected by CHD, we’ve found that the technology to diagnose these babies is there; the disconnect comes in the training. Many fetal screening techs and doctors are not properly trained to diagnose CHD.  It is the most common birth defect and a leading cause of defect-related infant deaths, so why aren’t these medical professionals taking a much closer look at the heart? While most will do a basic scan of the heart and check to see if all four chambers of the heart are there, this only rules out a small number of heart defects when there are over 40 different kinds.

In order to help repair this disconnect, we have partnered with various hospitals in the Children’s Hospital network to provide training for OB’s, sonographers, radiologists, perinatologists and other medical professionals who perform fetal screenings. Our goal is to train health care providers to accurately and consistently diagnose CHD in utero.

What can I do as an expectant Mom?

While we would like to put our trust in our medical professionals being able to catch every CHD in time, that’s just not the case as things are right now. Moms and Dads, the burden lies on you to give your baby the best possible chance of being diagnosed, if they do in fact have CHD. Here is a list of things you can do:

  • Take prenatal vitamins prior to conception. There is some evidence to show that folate decreases the risk of CHD.

  • While choosing your obstetrician, seek out one who works closely with a perinatologist. It is also worth asking if your doctor offers fetal echocardiograms as part of their pre-natal care plan.

  • Echocardiograms are the best way to diagnose congenital heart disease. If you have a family history of CHD, your insurance provider should cover the cost of a fetal echo. Always ask if your insurance will pay for a fetal echo, even if you don’t have a family history of CHD. For those that can afford it, echos can be paid for out of pocket and usually range from $800-1000, depending on your region and laboratory where it is performed.

  • Find out what kind of certifications/additional training your technician has. Seek out a tech who stays up to date with the latest methods, especially when it comes to the heart. Also ask if the laboratory is accredited and if they follow the latest guidelines for fetal screening.

  • Always get an 18-22 week anatomy scan, as most CHD’s will have formed by this point in the pregnancy.

  • Ask your technician or doctor these questions during your ultrasound/anatomy scan:

    1. Do you see all four chambers of the heart?

    2. Are the heart and other organs in the proper position?

    3. Do the valves function correctly with normal flow documented by Doppler?

    4. Are the blood vessels normal in location and size

    5. Is the heart muscle squeezing well?

    6. Do you perform a 3-vessel view? Are the cardiovascular structures connected normally?

    7. Is the heart rate and rhythm normal?

    8. Are there any signs of circulatory compromise, such as abnormal fluid collections?

  • When it comes time for your baby to make their way into the world, make sure you deliver at a hospital with a well-ranked NICU. Even if you followed all the above steps, there is still a chance your baby’s diagnosis could be missed. Delivering at a well-equipped hospital gives your baby the best chances to thrive. Never deliver at a hospital without a NICU.

  • Ensure your baby receives a pulse-oximetry test after birth, which measures the oxygen saturation of the blood and can help detect congenital heart defects.

  • Pass along the message! Whether it’s a friend who is expecting a baby, a family member who is planning on getting pregnant soon, or just someone who you think might not know about CHD, passing the message along can literally save a life.

Refrences:

Quartermain, Michael D. et al. Variation in Prenatal Diagnosis of Congenital
     Heart Disease in Infants. Pediatrics. Jul 2015, peds.2014-3783; DOI:
     10.1542/peds.2014-3783

Information reviewed by Dr. Wyman Lai

Medical Director, Echocardiography, CHOC Children’s
Co-Medical Director, Heart Institute, CHOC Children’s
Assistant Division Chief, Cardiology, CHOC Children’s Specialists

Dr. Wyman Lai is a leading, nationally-recognized pediatric cardiologist who treats the full spectrum of heart conditions at CHOC Children’s.  He is an expert in the areas of fetal cardiology and non-invasive imaging for heart disease in fetuses and children. Dr. Lai’s research interests include the echocardiographic evaluation of complex congenital heart disease and the use of advanced imaging techniques for the assessment of cardiac function. He has published over 100 journal articles and chapters, and he has lectured extensively in the United States and internationally.

April 20, 2018 by Lani O'Gorman

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