Every pregnancy is at risk
According to the American Heart Association (AHA), 40,000 babies are born with heart defects annually. The staggering number is just as frustrating for researchers as it is for heart specialists, especially because most of the defects have no known cause. Anita Moon-Grady, MD, professor of pediatrics and director of the fetal cardiovascular program at University of California San Francisco, says, "Of the eight out of every 1,000 babies affected by CHD, the severity of the condition ranges from mild to requiring treatment within the first year of life." She estimates it's about three out of those 1,000 babies that will need to have intervention before their first birthday. "Women need to know that they're at risk during pregnancy because the majority of babies with CHD are born to women with no identifiable risk," says Dr. Moon-Grady.
There are different types of congenital heart defects
There are several types of heart defects present at birth, and at least 18 have been officially identified along with additional anatomic variations. The AHA considers these the most common types of CHD:
- Aortic Valve Stenosis (AVS): A valve defect that can trap blood inside the heart causing damage
- Atrial Septal Defect (ASD): A hole in the top two chambers of the heart allows oxygenated blood to leak into oxygen-lacking blood chambers of the heart
- d-Transposition of the great arteries: The two main arteries of the heart are reversed, creating an impairment in the blood pathway to the body
- i-Transposition of the great arteries: Less dangerous than d-Transposition, i-Transposition occurs when the right and left lower chambers are reversed, as well as the great arteries, which allows for the body to still direct oxygenated and oxygen-poor blood to the proper locations in the body
- Coarctation of the Aorta (CoA): A narrowing of the aorta that results in high blood pressure and damage to the heart
- Ventricular Septal Defect (VSD): A hole between the two bottom chambers of the heart, resulting in the mixing of oxygen rich and oxygen-poor blood. This can also cause higher pressure in the heart and reduced oxygen throughout the body.
A defect might not be diagnosed until birth
Although a heart defect is usually able to be identified early in the second trimester, more often than not obstetricians are not diagnosing them. "Upwards of 90 percent of CHDs can be identified in an ultrasound at 14 or 18 weeks of gestation, yet only around 35 percent of CHDs are diagnosed prior to birth," Dr. Moon Grady says. "As a fetal cardiologist, I look at hearts all day, every day, so I know what to look for specifically. An OB/GYN might see something that doesn't look quite right, but they don't trust themselves enough to make a definitive call on it. This is why our focus now is to empower the front line providers, so we can raise the prenatal detection rate." Dawn Birkland, 35, is a mother that experienced this exact phenomenon. Her 5-year-old daughter Adelaide was born with hypoplastic left heart syndrome (HLHS), but she never imagined that her daughter was anything less than healthy. Dawn recalls, "Throughout my pregnancy, I was told everything looked great. It was only when my daughter was three days old that she was diagnosed with HLHS. She was in the nursery for only a very brief period, and one of the nurses noticed that my daughter had turned grayish. She called the pediatric cardiologist on call, who ordered an echocardiogram, and that's when they discovered the left half of her heart was practically nonexistent."
Babies fare better when diagnosed in utero
Knowledge is certainly power for mothers pregnant with a baby affected by a heart defect as prenatal detection has been linked to better long-term outcomes for the baby. "Evidence is building that prenatal diagnosis lends an advantage to the baby," says Dr. Moon-Grady. "Prenatal diagnosis has been shown to improve surgical survival (specifically for HLHS)." Mothers with a prenatal diagnosis of CHD are also able to plan their deliveries either in, or in close proximity, to hospitals equipped to handle surgical treatment of the condition in children.
You need to ask questions
Although cardiologists such as Dr. Moon-Grady are working to provide more training to obstetricians treating pregnant women that unknowingly carry a baby with CHD, if you are pregnant, it is vital that you come prepared to your ultrasound appointments with questions that can help identify a potential heart problem. Some questions to ask during an ultrasound exam are:
- Is the heart rate normal?
- Do you look at the arteries as part of your scan?
- Are the heart and stomach in the correct position?
- Do you see four chambers?
- Is the heart function normal?
- Are there two upper chambers (left and right atria), each with a valve controlling blood flow out of them?
- Are there two lower chambers (left and right ventricles), each with a valve controlling blood flow out of them?
- Do the two vessels leaving the heart (aorta and pulmonary artery) cross each other as they exit?
- Is the wall between the two lower chambers intact, without any holes?
- Is everything else in the heart normal?
There are treatment options based on severity
It can be very upsetting (to put it mildly) to learn that your baby has a heart defect, but you should know that there are treatment options available, and medicine has come a long way. "There are surgical palliations for almost every scenario, and we almost never say there isn't anything we can do," Dr. Moon-Grady says. "For example, we are getting much better with our heart rhythm problems. These used to have a 50 percent success rate, and we can now treat mothers with medication during pregnancy with an over 90 percent success rate." Different treatment options for various problems depending on severity, include medication for pregnant women that will transfer heart-stabilizing benefits to the fetus, and catheterization, surgery, and heart transplant for the baby after birth. (Find out how babies are even smarter than you think.)
Symptoms range in severity
You should know that just like heart defects vary in severity, so do their symptoms. According to webmd.com, symptoms usually present themselves in the first few months after birth, though some may appear as the child grows. Symptoms include: difficulty with breathing that may be rapid, poor weight gain, sweating (mainly around head) and clammy skin, fatigue, fussiness, sudden weight gain, swelling (usually in the morning, because of fluid retention), and dehydration. Symptoms related to problems with blood flow are skin with a bluish tint around lips, extremities, and nails that worsens with activities such as crying and eating, slow growth (weight and height), and a delay achieving skills such as crawling or walking. If you suspect that your child has any of these symptoms, speak to your pediatrician as soon as possible. For the more severe symptoms, such as shortness of breath, difficulty breathing, and loss of color around lips and extremities, emergency treatment is warranted.
There are different tests to provide a diagnosis
Babies suspected of having a CHD will be given at least a few tests to confirm a diagnosis. Some common tests for CHD include:
Performed during pregnancy:
- Fetal echocardiogram: A test performed during gestation to specifically identify a congenital heart defect, this test utilizes the abdominal or endo-vaginal ultrasound, but it focuses in detail on the fetus' heart
Performed after birth:
- Electrocardiogram (EKG or ECG): This test measures the electrical activity of the heartbeat. It is performed by placing stickers on a patient's body and measuring the electrical impulses of the heart beat.
- Chest X-rays
- Echocardiogram: This test is an ultrasound of the interior of the heart and can detect almost every CHD.
- Magnetic Resonance Imaging (MRI): A non-invasive test that measures the function and appearance of the heart that requires the patient to remain still.
- CT scan: This test uses multiple X-ray images to provide a clear picture of the heart.
You'll need to see a specialist
If your fetus or baby is found to have a heart defect, you'll need to be seen by a specialist, such as a fetal or pediatric cardiologist. You'll also need to make sure that you are treated at a hospital equipped to handle the specific heart condition your child has, which will most likely be a children's hospital. In the cases of CHD that can be treated prior to birth, called fetal interventions, you'll need to head to one of the few highly specialized centers in the U.S. that are able to perform these, says Dr. Moon-Grady.
Learning all the details of your child's specific defect can be difficult at best, and Adelaide's mother Dawn encourages other mothers of children with CHD to avoid placing blame on themselves. She said, "Trying to figure out why CHDs happen can be incredibly stressful, and if you do find yourself the parent of a child with CHD, please try not to blame yourself. You did not cause this." She offered hope to others as well, that a full life after CHD treatment is possible, saying, "Adelaide is now a rambunctious, hilarious, sweet kid who amazes us every day."