Expecting a baby is one of the most exciting and happy times in a parent’s life. But when pregnant patients and their families receive a prenatal diagnosis of a congenital heart defect (CHD), it sparks warranted concerns and questions.
Congenital heart disease is one of the most common birth defects in the United States, affecting approximately 40,000 babies each year in the U.S. That’s one child every 15 minutes.
However, with advancements in medical care, children born with CHD are living longer, healthier lives. Early detection and prenatal care play a critical role in preparing for treatment after birth.
Diagnosing CHD in utero
Dr. Deemah Mahadin, a pediatric cardiologist at Children’s Hospital of Michigan, said congenital heart disease is often diagnosed during pregnancy through a specialized ultrasound called a fetal echocardiogram.
“We are specifically looking at the baby’s heart structure, heart function and the blood flow,” Mahadin said. “We can detect if there are structural heart problems or if the heart is not working well. Fetal echocardiography mainly will give us all the information regarding baby’s heart that we need to make an accurate diagnosis and a treatment plan.”
While congenital heart defects can be diagnosed as early as 14-15 weeks of pregnancy, the most common window for detection is 18-22 weeks gestation.
“When mothers get a level two (or more detailed) ultrasound, which is typically around 20 weeks gestation, and their obstetrician is looking at the baby’s structure, they can often detect if something is not right about baby’s heart.
“There are some limitations to early pregnancy fetal echocardiography because the heart is small, and it is difficult to see all the details, but major cardiac abnormalities such as missing valve and missing chambers are easier to detect, even with the early pregnancy fetal echocardiography,” Mahadin said.
If the ultrasound reveals an issue with the heart, a fetal echocardiogram is usually recommended to further assess the situation.
Unfortunately, not every congenital heart defect gets detected before birth. Barriers for the prenatal detection of CHD usually revolve around pregnant people not getting adequate prenatal care. In some cases, prenatal images are so difficult to evaluate that the obstetrician never recognizes there was something wrong with the baby’s heart, and therefore the referral to pediatric or fetal cardiology center was never made.
Early detection is key to ensuring that a care plan is in place before the baby is born, allowing for timely treatment and interventions. However, it’s important to remember that even with the best prenatal care, some defects may not be detected until after birth.
Congenital heart defects: Causes and prevention
The exact causes of congenital heart defects remain largely unknown. In some cases, a genetic abnormality may be found, which could be hereditary. Conditions like Down syndrome or Trisomy 21 are associated with an increased risk of CHD, with about half of babies born with these genetic conditions also having a heart defect.
“The fact is, most of the congenital heart diseases are not associated with previously known risk factors that we could have predicted,” Mahadin said.
Instead, most congenital heart defects are multifactorial, meaning many small factors contribute to the development of the heart condition. These might include family history, maternal diabetes, infections during pregnancy, or the use of certain medications. Despite these associations, it’s important to note that there is no known way to prevent most congenital heart defects, and parents should not feel at fault should their baby be diagnosed with the condition.
Common congenital heart defects
The most common type of congenital heart defect is a ventricular septal defect (VSD), a hole between the lower two chambers of the heart.
“This defect may require Cardiac surgery, and regular follow-up with a cardiologist will be necessary to repair the condition,” Mahadin said.
Despite their frequency, advances in medical technology have greatly improved outcomes for babies with CHD. Today, many children with congenital heart defects live into adulthood, and more than 2 million people in the United States are currently living with a CHD.
What to expect after delivery
If your baby is diagnosed with a congenital heart defect, the Fetal Care Center at Children’s Hospital of Michigan can help guide you through the next steps. A comprehensive care plan will be developed before birth, often in collaboration with the hospital where you plan to deliver. This ensures a team of specialists is ready to address your baby’s needs immediately after birth.
“Once there is a prenatal diagnosis of any congenital heart disease, whether it’s a structural defect, arrhythmia or dysfunction of the heart, the pregnant patient will likely meet with specialists at least once a month,” Mahadin said. “Our fetal care nurse navigator serves as a single point of contact for expecting mothers, navigating their specialty appointments, and they will also provide comprehensive patient education and support to help ensure continuity of care.”
Depending on the severity of the heart defect, delivery may be planned ahead of time, including the possibility of induced labor to allow for better coordination of medical care.
“In most cases, we make this plan well before a baby’s arrival, ensuring their safety and wellbeing and the best possible outcome.”
It’s important for expecting parents to know that, while a diagnosis of congenital heart disease can be daunting, many children go on to lead healthy, active lives with the right treatment and care. Early diagnosis, a personalized care plan and ongoing support from medical professionals all contribute to ensuring the best possible outcomes for babies born with congenital heart defects.
If you’re pregnant and concerned about congenital heart defects, it’s essential to discuss your concerns with your obstetrician.
Click or tap here to learn more about CHD care at Children’s Hospital of Michigan.