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Diagnosis And Treatment Of Congenital Heart Defects

For expectant parents, your first ultrasound is your initial glimpse at your baby. However, for your medical team, it’s their first view at your baby’s development—looking for any abnormalities, such as congenital birth defects of the heart.

According to the Centers for Disease Control and Prevention, congenital heart defects (CHDs) are the most common type of birth defect and the leading cause of infant death. Universally, CHDs occur with a frequency of 1 in 100-120 live births. The defects involve an abnormality of the heart, whether structural or functional, and can vary from mild to severe. Treatment options also vary and while some may require surgical repair in the newborn period, it is possible for others to spontaneously resolve on their own with time.

A diagnosis of a CHD can be frightening for a parent-to-be. However, thanks to advancements in medical care and treatment, babies are living longer, healthier lives. Learn more about CHD, its causes and how it’s diagnosed and treated.


Heart defects can begin to develop in the first six weeks of pregnancy when the heart is forming. Little is known about what causes most CHDs, but a majority are spontaneous malformations with no hereditary or discernable causes. However, some factors may contribute, such as:

  • Genetic or chromosomal abnormalities
  • First-degree relative diagnosed with a heart defect
  • Mother’s diet, medications and health conditions. For example, pre-existing diabetes is linked to heart defects in babies.
  • Smoking and drinking alcohol

Types of CHD

There are roughly 40 different types of congenital heart defects, many of which can occur in combination, so there is no one-size-fits-all approach to care.

“Congenital heart defects are sort of like an a la carte menu,” said Gordon Cohen, MD, PhD, director of Banner Children’s Congenital Heart Program at Banner Children's at Desert in Mesa, AZ. “There are many different possible defects that can happen to the heart and they can happen in isolation or combination. Usually, when there are multiple defects, the combinations happen predictably and are often necessary for the baby to survive in the womb.”


“Roughly 60% of heart defects are detected prenatally,” Dr. Cohen said. “There are some people who occasionally make it into adulthood before a congenital heart defect is ever diagnosed, however that is relatively uncommon these days.”

During pregnancy

Many CHDs can be detected before birth through the use of a special type of sonography called fetal echocardiography. If your physician believes your baby may have a heart defect, they will refer you to a maternal fetal medicine specialist or pediatric cardiologist for a fetal echocardiogram, which in most cases has a high degree of diagnostic accuracy.

After birth

As part of your baby’s newborn screening, they will be screened for the possibility of a CHD using a simple test called pulse oximetry. This test checks the amount of oxygen in your baby’s blood. This test can often alert the medical team to the possibility of an important CHD. Other less critical defects are not picked up this way but are often discovered later in life by your baby’s physician during a routine physical exam.

Treatment options

When it comes to treating CHD, it depends on the precise problem. Close monitoring is necessary to determine if the defect is serious and needs treatment soon after it is found or if it can safely go untreated. During your pregnancy, your doctors will discuss the anticipated severity of the condition and which procedures or treatments will be necessary. Your doctors will also discuss the possibility of transfer to a specialized heart center if surgery or intervention is necessary after your baby’s birth.

In utero interventions

“In utero interventions are extraordinarily uncommon,” Dr. Cohen said. “In some cases, we’ll treat by delivering medicine to the fetus by giving it to the mother. Very rarely will we perform fetal open-heart surgery, where we open up the womb, perform open heart surgery on the fetus and then put the baby back in to continue growing. These types of surgeries are still very limited and in experimental phases.”

After birth

Unless there are signs that your baby is in trouble, pre-term delivery or C-section is not typically necessary. Some may require delivery in a specialty center, while others can be safely transported after birth. Most heart conditions can be managed medically for the first days or weeks of life, but you will work out a plan for delivery and postnatal care with your medical team.

“The prognosis depends on the heart defect, but many children go on to live pretty normal lives,” explained Dr. Cohen. “It’s normal to be scared, but keep in mind that the vast majority of children survive and thrive.”

Parents of a child with a congenital heart defect often experience challenges both psychologically and emotionally. If you’re a parent of a child with CHD and you are experiencing depression, anxiety or other mental health problems, speak to your doctor. Remember you aren’t alone. They can help you locate a support group or connect you with a behavioral health specialist.

If you are pregnant or plan on becoming pregnant and have any questions about congenital heart defects, talk with your doctor. The experts at Banner Health are here to help you with your concerns whether they’re related to heart care, pregnancy or other medical needs.

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Heart Health Children's Health Pregnancy