Congenital heart defects (CHDs) are problems with the structure and function of a person’s heart that are present at birth.
CHDs are the most common birth defect affecting U.S. children. More than 40,000 babies are born with CHDs each year, according to the Children’s Heart Foundation. That number equates to one child born with a CHD out of every 100 babies born, or one every 15 minutes.
With today’s modern ultrasound technology and fetal cardiac expertise, doctors can now find many heart defects at as early as 16 weeks’ gestation. While it can be hard to learn that your baby may have a heart defect, this advanced knowledge can help both you and your doctors plan for a safer delivery of your baby.
We also offer a range of support services to help parents facing the diagnosis of CHD in their child.
What Are Fetal Echocardiograms?
Pregnant patients may be referred to our pediatric cardiologists (heart doctors) for a special ultrasound called a fetal echocardiogram (fetal echo).
Fetal echoes can help detect fetal heart abnormalities before birth, allowing for faster medical or surgical intervention once the baby is born, if needed. This knowledge improves the chances of survival after delivery for babies with serious heart defects.
We offer fetal echo scans through the Fetal and Perinatal Cardiology Program at UPMC Children's Hospital of Pittsburgh and UPMC Magee-Womens Hospital.
What happens in a fetal echocardiogram?
A fetal echocardiogram uses sound waves to make detailed pictures of the baby’s heart while still in utero (in the womb). It’s performed by a trained ultrasound technician, and the pictures are reviewed by a pediatric cardiologist, a specialist with expertise in heart problems in babies.
- Abdominal ultrasound — The most common method. A technician puts gel on the pregnant person's belly and moves an ultrasound probe over their skin to take pictures of the baby’s heart.
Nothing special is needed to get ready for this test. Unlike some other pregnancy ultrasounds, you don’t need a full bladder. The test can take anywhere from 30 minutes to two hours, depending on how complicated the baby’s heart condition is.
Doctors usually recommend having this test between 18 and 22 weeks of pregnancy if either parent has a history of CHD. If there are more serious heart problems in the family, the test might be done earlier. After the echo, you will meet with the pediatric heart doctor to discuss the results.
What will the results of the fetal echo show?
Your doctor will discuss the results of your test.
Normal test results
If the test is normal, no cardiac abnormalities were found. You will continue with routine pregnancy care and testing.
You will be counseled, however, that not all heart problems can be ruled out because circulation in a fetus is different from circulation in a baby after birth.
Additionally, very small holes between the lower chambers of the heart are hard to see, and it may not be possible to see every part of the large blood vessels during fetal ultrasound.
Abnormal test results
If the test is abnormal, there is a problem with the way the baby’s heart works or is formed. You may need to undergo further testing.
Your pediatric heart doctor will explain the diagnosis and let you know if there are other things to watch for. If needed, you’ll be connected with other specialists who work together to support you and your baby.
Your pediatric cardiologist will work with your OB-GYN to make a plan for your delivery. Our team will stay in close contact with you and your obstetrical team until your baby arrives.
We may also refer you to the Heart Institute at UPMC Children’s Hospital of Pittsburgh for:
- Cardiac MRI — A test that can provide additional information about the fetus and any problems with certain organs.
- Consultation with a maternal/fetal medicine (MFM) specialist, neonatologist, geneticist, or pediatric cardiothoracic surgeon to discuss treatment options.
- Genetic counseling — Provides an assessment of the likelihood of a genetic syndrome and possible problems with other organs based on the heart diagnosis.
- Social workers/nurses — Can provide information about the needs of children with CHD and support for families as they care for their children.
- Tours of the Cardiac Intensive Care Unit.
What if My Baby Has a Heart Defect?
It can be hard finding out that your baby has a heart defect, but this information is important to have as you make decisions about your pregnancy.
Many different types of heart defects can affect children. They include issues caused by problems during early fetal development, parts of the heart that are in the wrong places, parts of the heart that don’t form correctly, or irregular heartbeats. Most of these problems are found early in life, but not always.
Some heart defects are mild, like small holes between heart chambers, while others are very serious, such as missing chambers or valves. Having a congenital heart defect can sometimes affect how well the circulatory system works.
People with these defects are at higher risk for certain health conditions later in life, including:
- Arrhythmias (irregular heartbeats).
- Congestive heart failure.
- Heart infections, like infective endocarditis.
- Kidney problems.
- Liver problems.
- Pulmonary hypertension (high blood pressure in the lungs).
Your pediatric cardiologist will counsel you about the seriousness of the heart defect and tell you what to expect.
Currently, prenatal heart surgery and catheterization (a balloon procedure) are limited to a small number of conditions, and their effectiveness has not been proven.
Your pediatric cardiologist can provide information about whether your fetus is a potential candidate for fetal intervention, describe the potential benefits and possible risks (to both you and the fetus), and help refer you to a fetal intervention center.
What happens when a baby is born with a heart defect?
Only about 25% of babies born with CHDs will need surgery or other interventions within their first year of life, according to the Children’s Heart Foundation.
Some heart defects will not require immediate intervention, and the baby can be followed at the delivery hospital and as an outpatient after discharge.
Other defects are more serious and require transfer to a hospital with pediatric cardiac surgical services immediately after delivery.
In a small number of cases, the condition may be severe enough for the pediatric cardiologist to recommend delivery at a pediatric heart center so that an intervention can be performed within minutes of birth.
In all cases, these issues should be discussed and planned for during future visits.
Can a baby with a heart defect survive?
Yes — virtually all children born with simple defects survive into adulthood.
During the first year of life, babies born with CHD may not gain weight as rapidly as other infants, which can be frustrating for new parents.
Healthy babies usually double their birth weight between four and five months of age. Babies born with CHD, congestive heart failure, or cyanosis, a condition in which blood pumped to the body has less oxygen than normal, tend to gain weight more slowly. An eight-ounce to one-pound gain in a month may be an acceptable weight gain for a baby with a heart defect.
Some other factors related to CHDs may interfere with your baby's growth, including:
- Decreased food intake due to rapid breathing and fatigue.
- Decreased oxygen in the blood (hypoxia).
- Excessively rapid heartbeat.
- Frequent respiratory infections, such as bronchitis or pneumonia.
- Greater caloric needs.
- Increased respiratory rate.
- Poor appetite.
- Poor absorption of nutrients from the digestive tract.
Some babies who won’t gain weight may need more calories or nutrients. Others may be getting enough nutrients but still may gain weight slowly. Your baby’s primary care provider or cardiologist will weigh your baby at every visit to monitor their growth.
Can you live a normal life with a congenital heart defect?
More than 2 million children and adults are currently living with CHDs in the U.S., according to the Children’s Heart Foundation.
Most children with CHDs won’t have any physical or mental limitations that prevent them from participating in normal school programs and life activities. Most school districts, with the aid of their school nurses, can evaluate children with heart defects and make changes to meet their needs. Many congenital heart centers also have specialized programs to evaluate and treat children at risk of these problems.
Children born with more complex problems may have limitations. Some children with congenital heart defects have developmental delays or other learning difficulties.
What are the symptoms of a baby with a heart defect?
Because minor defects rarely cause symptoms, most are diagnosed during routine medical checkups. While most heart murmurs in children are normal, some may be due to defects.
Babies with severe heart disorders generally have symptoms that become evident during the first few months after birth. Some babies appear blueish or have very low blood pressure shortly after birth. Other heart defects cause breathing difficulties, feeding problems, or poor weight gain.
Are all heart defects genetic?
No, but some are. There are also some heart problems that are not present at birth but develop during childhood.
There are three general categories of possible childhood heart problems:
- Acquired damage — Heart damage that occurs during childhood due to infections, such as Kawasaki disease and rheumatic fever.
- Arrhythmias — Heart rate problems, such as slow, fast, or irregular heartbeats that develop over time.
- Structural defects — Malformations of the valves, chambers, arteries, or veins that can impair the heart’s circulation pattern. These are typically present at birth but may not be detected until an older age in some cases.
These defects are usually — but not always — diagnosed early in life.
Are congenital heart defects hereditary?
Not necessarily. Anyone can have a child with a congenital heart defect. Out of 1,000 births, at least eight babies will have some form of congenital heart disorder, most of which are mild.
If you or your partner have a personal history of a heart defect or have already had a baby with a heart defect, your risk of having a baby with a heart defect may be higher. Most of the time, the cause isn’t known.
Although the reason defects occur is presumed to be genetic, only a few discovered genes have been linked to heart defects. Rarely, the ingestion of some drugs and the occurrence of some infections during pregnancy can cause heart defects.
What is the life expectancy of someone with a congenital heart defect?
Children born with congenital heart defects are living longer and healthier lives thanks to advances in diagnosis and treatment. There has been a 37.5% decrease in death rates from CHD in the U.S. since 1999 due to medical advancements.
- Of children born with mild heart defects, 95% reach adulthood.
- Of children born with serious heart defects, about 69% reach adulthood.
- Overall, about 81% of children with heart defects reach age 35.
- Of those who reach adulthood, about 75% live into their 60s.
Contact Us for Fetal Echo Testing
For appointments or consults at the Perinatal Cardiology Program, call 412-641-4304.
