Diagnosing "Broken Hearts" In Unborn Babies

Northwestern Medicine
Cardiology February 15, 2019

According to the American Heart Association, approximately 400,000 children are born with a heart defect each year, meaning, the heart or blood vessels near the child’s heart didn’t develop normally before birth. At Northwestern Medicine Central DuPage Hospital, a special clinic is available for pregnant women whose babies are at risk for congenital heart disease (CHD).

“Congenital heart disease affects 1-2 percent of pregnancies,” says Joyce Johnson, MD, a fetal cardiologist with Ann & Robert H. Lurie Children’s Hospital of Chicago who oversees the fetal echoes clinic at Northwestern Medicine Central DuPage Hospital in Winfield, Illinois. “With appropriate screening, we can catch many critical congenital heart defects before babies are even born.”

For pregnant women, the American College of Obstetricians and Gynecologists recommends an ultrasound in the second trimester. During that screening ultrasound, it’s typically confirmed that the baby’s heart has four chambers, and the two great blood vessels leaving the heart cross in an appropriate matter. Dr. Johnson says this can help exclude a significant portion of CHD. If a defect is detected on the ultrasound, the next step would be a fetal echocardiogram. 

“My job in the fetal cardiology clinic is to diagnose the baby’s congenital heart disease while it is inside their mother, and come up with a plan for birth and shortly after delivery,” explains Dr. Johnson. “Women come see me for a variety of reasons, but most are concerned something is wrong with the heart based on the ultrasound screening.”

That was the case for Mandy Youker of St. Charles, Illinois. During Youker’s first ultrasound at Central DuPage Hospital, issues were detected with the baby’s heart. Youker was referred to Dr. Johnson, who diagnosed Youker’s baby girl with a heart defect called AV canal, which means, there’s a hole in the center of the heart.

“Even though the diagnosis sounds scary, Dr. Johnson does a wonderful job of relieving anxiety and explaining everything in detail,” says Youker. “She’s assured us that we’re getting the very best care possible, and we have a plan in place to treat our daughter once she’s born.” 

Dr. Johnson takes a multidisciplinary approach, working together with maternal-fetal medicine doctors, obstetricians, pediatric surgeons and cardiologists, to make sure a plan is in place for treating the baby.

“There are some heart defects were the baby can get very sick immediately after delivery. If that’s the case, we need an entire team to care for the baby once it’s born,” says Dr. Johnson. “That’s why fetal echocardiograms are so important. They allow us to make these diagnoses and plan ahead. I tell my patients, ‘you’ll know more after leaving this room than you did beforehand.’”

Other factors that bring patients to Dr. Johnson’s clinic include women who take certain medications, have autoimmune diseases, diabetes, a family history of CHD, or those who gave birth to a previous child with CHD. After losing her daughter, Lorraine, to a heart defect in 2017, Anne Street of Winfield, Illinois, knew she wanted to see Dr. Johnson for her next two pregnancies.

“The hardest thing in the world is to bury a child,” says Street. “I truly believe that ignorance is bliss, but knowledge is power. I’m due in June with my fourth boy, and I want to know everything I can about his heart. So far, the fetal echoes look great and I’m so thankful to have Dr. Johnson’s guidance and expertise.”

For more information or to schedule an appointment with Dr. Johnson, please call 800.KIDS.DOC (800.543.7362). To learn more about Northwestern Medicine, visit nm.org/about-us.