More and more, babies born with congenital heart disease (CHD) are diagnosed prenatally. Dr. Sheetal Patel, Director of Lurie Children’s Fetal Cardiology Program and Assistant Professor of Pediatrics, Northwestern University Feinberg School of Medicine, explains the role prenatal echocardiography plays in diagnosing CHD and the benefit of early diagnosis.
Congenital heart defects (CHDs) are among the most common birth defects, affecting 1 out of every 110 babies born. In the United States, nearly 40,000 babies are born with CHD each year, ranging from simple lesions that may not need any interventions to complex CHDs that can be fatal if appropriate treatment is not provided soon after birth. Research shows that prenatal diagnosis and early detection of these complex CHDs is associated with improved surgical outcomes. Thanks to improvement in diagnostic technology, about 70% of complex CHDs are detected prenatally with a fetal echocardiogram.
A fetal echocardiogram is an ultrasound test performed during pregnancy to evaluate the heart of the unborn child and can be performed as early as 18 weeks gestation. Our pediatric cardiologists perform more than 2,000 fetal echocardiograms annually, with a diagnostic accuracy that exceeds 95%.
It is a non-invasive procedure performed with an ultrasound probe placed over the mother’s belly. Generally, the pain or discomfort that results from the probe pressure on the mother is minimal. It involves detailed evaluation of a baby’s cardiac structures including cardiac chambers, valves and major blood vessels. It also evaluates fetal heart rate and rhythm. This test can detect CHDs, such as:
Because of limitations with fetal echocardiography, it may not detect minor cardiac valve abnormalities, small holes between cardiac chambers or coarctation of aorta, which develops after birth.
Prenatal diagnosis of CHD allows for necessary preparation to provide highly specialized care that a baby will require soon after birth, and prevents the hemodynamic compromise that can result if the CHD was undetected. This preparation involves coordinated care by multiple teams with expertise in pediatric cardiology, neonatology, pediatric cardiac intensive care and pediatric cardiovascular surgery. In addition, social workers, child life specialists, and palliative care teams may be available to help parents cope with the diagnosis and treatment.
An important aspect of early detection is to provide expectant parents the opportunity to have detailed counseling. This counseling helps parents better understand their unborn child’s heart condition and interventions that might be needed. It also aids parents in their research to choose a center of excellence for their baby’s care. The goal of this prenatal counseling is to arm parents with knowledge so they can process the information over time and prepare for the birth. Research shows that those mothers who knew about their baby’s heart condition prior to the birth were less anxious once the baby was born as compared to mothers who found out about the defect after baby was born.
Not every expectant mother needs to have a fetal echocardiogram. However, if the risk of having CHD in the unborn child is expected to be higher, a fetal echocardiogram is ordered.
These risk factors include:
Mothers should discuss with her obstetricians if a fetal echocardiogram is recommended based on the family history and their own medical history. If indicated, a fetal echocardiogram should be performed between 20 to 24 weeks gestation which is an ideal time for accurate diagnosis of CHD.
Other indications for fetal echocardiogram include:
These abnormal screening tests indicate higher risk of CHD in the fetus and, therefore, a fetal echocardiogram is recommended.
A pediatric cardiologist performing the fetal echocardiogram will discuss the findings of CHD in detail with the expectant parents. Tailoring the counseling to the parent’s needs over time is critical as parents can be very overwhelmed after the initial diagnosis of CHD.
During counseling, the following should be discussed:
The goal of the counseling process is to provide information to parents that will help in their decision-making process. Options could include preparation for the care journey, palliative care or other family planning options.
Following the initial consultation, parents have a Comprehensive Fetal Cardiac Consultation which includes a follow-up fetal echocardiogram to assess the evolution of the CHD (if any); and consultation with a fetal cardiology team composed of a pediatric cardiologist, neonatologist, cardiac intensivist, cardiovascular surgeon, social work, and other specific teams pertinent to the diagnosis. For example, a consultation for prenatal diagnosis of hypoplastic left heart syndrome (HLHS) would include a specialist from our Single Ventricle Center of Excellence.
Parents may also choose to meet with the NICU-Cardiac Neurodevelopmental Team or a Child Life Specialist if they are interested in learning more about the important aspects of their child’s quality of life in the future. The number of partners at the table during this meeting can seem overwhelming to some parents and modifications are made to this process to meet each family’s needs.
Our goal as a comprehensive fetal cardiology team is to arm families with information, answer questions, form a united care team to provide cohesive CHD care pre- and post-natally, and optimize the chances for the most successful outcome and quality of life.