Congenital Heart Defects

What parents need to know after their baby’s diagnosis

By Reinaldo Acosta, MD, Maternal Fetal Medicine Specialist, CHRISTUS Children’s 

Congenital heart defects, also known as CHDs, are the most common type of birth defect, affecting about 40,000 births – or 1 percent of births – each year in the United States. A congenital heart defect originates during the early stages of fetal heart development and can affect the structure and function of your baby’s heart.

As an OB-GYN who specializes in maternal-fetal medicine at the Center for Maternal and Fetal Care at CHRISTUS Children's, I work with families who are concerned about their baby’s heart diagnosis and what this means for their future. When I meet with parents, some questions I often get asked are:

• Will my baby survive during my pregnancy?
• Will my baby survive after birth?
• Will my baby have developmental delays?
• Will my baby be able to live a normal life?
• Will my baby reach adulthood?

For many parents, it can be emotionally difficult to learn their baby has a heart condition. But it's also important to realize that just because your baby has a heart defect, does not mean your baby can’t live a fulfilling and productive life. There are more than 2 million adults with congenital heart defects who are living longer and healthier lives thanks to the innovative advancements made over the last few decades. These advancements have greatly improved how we diagnose and treat heart defects, ultimately leading to better care and outcomes.

Since parents have many questions about congenital heart defects, I wanted to take this opportunity to answer some of those questions, and in doing so, I want parents to know there is hope even after a diagnosis.

When are congenital heart defects diagnosed in pregnancy?

Most congenital heart problems are detected when the patient is referred for an ultrasound. Heart defects are typically diagnosed during the 18- to 22-week anatomy scan. Most cases are diagnosed incidentally when we encounter a potential heart anomaly during a routine prenatal anatomy scan.

If a baby is referred for a first-time ultrasound between 11 to 14 weeks gestation – especially in cases where the pregnant mother has congenital heart disease herself, or other risk factors, (i.e. diabetes, severe obesity, among others) – our team specifically looks for markers that may indicate the presence of structural heart defects during the ultrasound. When a mother has a congenital heart defect, there is about an 8 to 12 percent chance the baby may develop a heart problem. Generally, the risk of any baby born with a heart condition is about 1 percent.

How do you diagnose heart problems in utero?

We diagnose congenital heart disease using two modalities: fetal ultrasounds and echocardiograms.

A fetal ultrasound looks at the entire anatomy of your baby from head to toe. The ultrasound scans your baby’s heart, brain, spine, and organs to identify fetal abnormalities during your baby’s development.

A fetal echocardiogram is similar to an ultrasound (anatomy scan). However, instead of scanning the entire anatomy of the baby, we spend an hour carefully examining your baby’s heart for any defects.

What happens after my baby is diagnosed with a heart condition?

Once a heart condition is suspected during an ultrasound, your OB-GYN will refer you to a maternal-fetal medicine physician. Your maternal-fetal medicine physician will order a detailed fetal anatomical study. If a cardiac defect is diagnosed or is still suspected, an echocardiogram will be done to confirm your baby’s heart defect and provide a more definitive heart diagnosis. The anatomy scan will also identify any other fetal anomalies and determine if your baby’s heart defect is an isolated problem or part of a syndrome or chromosomal abnormality.

If your baby’s condition is confirmed, you will be referred to a genetics counselor. They work closely with our physicians to evaluate your family’s risk of an inherited heart condition, decide the genetic tests to order, and interpret and use these genetic test results to guide your baby’s diagnosis. Genetic testing may include chorionic villus sampling, amniocentesis, and laboratory studies to evaluate the genetic makeup of your baby. If indicated, the exams may include a test called microarray analysis, which examines the whole genetic material within the chromosomes and provides a more comprehensive evaluation. We can also test specific panels if there is a disorder associated with a specific congenital heart defect.

You may also need to see your maternal-fetal medicine doctor often. The frequency of fetal monitoring depends on your baby’s heart condition. There are some conditions that need frequent monitoring like babies with abnormal heart rate rhythm, or arrhythmia. Sometimes, your baby needs to follow up every couple of weeks. However, there are conditions in which your baby needs to be followed up at least once or twice a week to make sure he or she does not develop heart failure in utero or other complications.

How will my baby’s heart diagnosis affect my delivery?

When a baby is born with a heart defect, it doesn’t necessarily mean that you will deliver prematurely. When there is a possibility to offer treatment after birth, and if the baby’s well-being is not compromised, then you should be able to deliver at full term.

In certain cases, premature delivery may be necessary if the baby’s health is compromised and it is determined the baby would be safer outside of the womb in the neonatal intensive care unit. We have different tests available to evaluate your baby’s well-being in utero. We use electronic fetal heart monitoring and ultrasound exams like the biophysical profile test and Doppler studies of the umbilical artery. Such tests help us anticipate the proper time for a safe delivery.

The majority of babies with a heart defect are able to have a vaginal delivery – as long as there are no other associated medical conditions (for mom or baby) that might complicate the delivery. If the baby is too small and cannot tolerate labor or the baby is not head down at the delivery time, then a cesarean section would be needed. Just because your baby has a heart defect diagnosis doesn’t mean the delivery will be an automatic C-section.

Do all babies with a heart defect need surgery after birth?

Congenital heart disease has a very broad spectrum. Not all babies will need heart surgery after birth. Depending on the baby’s heart condition, some may have surgery right away after birth or a few weeks later, or when they get older. It really depends on the severity of your child’s heart problem.

Will my baby need to see a cardiologist for the rest of his or her life?

Not necessarily. There are some congenital heart defects that do not require long-term follow-up. For example, a ventricular septal defect (hole in the heart) that spontaneously closes or is permanently fixed after being surgically repaired. However, patients with complex heart defects such as hypoplastic left heart syndrome, coarctation of the aorta, and atrioventricular septal defects, just to name a few, will need regular follow-ups and may require long-term care and surveillance. Over time, some patients may need stents put in, pacemaker batteries replaced, and others may need future surgeries or cath procedures down the road. Each patient’s case is different.

Follow-ups can be spaced out as the child grows. In the first couple of years, your child will have follow-up visits every three to six months, then yearly, and then every five to ten years. It all depends on the condition.

What is your message for families with babies who have a heart defect?

Thirty years ago, having a baby diagnosed with a heart defect was a very alarming and distressing situation for a family. Although a diagnosis is a stressful situation, the favorable outcomes have increased drastically. Even though your baby is diagnosed with a heart condition, a lot more treatment options and interventions are now available.

As a physician, I have worked in other countries where medical care and resources are scarce. Patients in the U.S. are fortunate to have health care and access to a children’s hospital – like CHRISTUS Children’s – where we have the expertise, technology, and resources to meet your baby’s heart needs.

Click here to learn more about the Center for Maternal and Fetal Care at CHRISTUS Children's.