Health & Fitness

Doctors diagnose heart defects before a baby is even born

‘HE’S DOING GREAT’: Elias Graham, 1, with his parents, Betty and Adam Graham, at their West Kendall home.  Elias was diagnosed with heart defects in utero and has undergone two surgeries since birth.
‘HE’S DOING GREAT’: Elias Graham, 1, with his parents, Betty and Adam Graham, at their West Kendall home. Elias was diagnosed with heart defects in utero and has undergone two surgeries since birth. For the Miami Herald

An emerging specialty, fetal cardiology, is helping to diagnose heart defects months before a baby is born, greatly increasing the chance for a good outcome.

Dr. Madeleen Mas is heading a new fetal cardiology team at Miami Children’s Hospital, bringing specialists from various disciplines together to create a plan after a fetus is diagnosed with a heart problem.

“In the past, complex defects were only discussed after birth,” Mas said. "Now we have this team approach. We can devise a specific plan for that baby before the baby is born, allowing a much smoother transition from the womb right into intensive care” and from there to surgery.

Mas said the awareness of the need for prenatal diagnosis gives the baby a much better chance from the surgical aspect. Scientific studies have shown that prenatal diagnosis of critical heart defects has contributed to a marked improvement in survival and better neurological outcomes.

Obstetricians are on the front line for spotting potential problems and then referring the mother to a fetal cardiologist. Some of the risk factors for birth defects are a family history of congenital heart disease, maternal diabetes, autoimmune diseases and exposure to toxic agents like drugs, antidepressant medications and radiation.

“Early ultrasound screening is usually the red flag for the obstetrician. Sometimes, the obstetrician will note on a routine scan that the four chambers [of the heart] are not normal,” Mas said.

That was the case for Betty Graham of Kendall.

“I was at a routine checkup at 20 weeks,” Graham said, when she learned that the left side of her baby’s heart was underdeveloped.

“That was the last appointment on a Friday and she [Mas] wasn’t available until Tuesday. It was like the longest wait of my life,” Graham said.

Mas did an echocardiogram and afterward explained to Graham and her husband Adam that their son had a serious heart condition.

“All I remember is her saying he’d need three surgeries, one at birth, one at six months and the last one at age 3. You can imagine. This is beyond belief. We were just shocked that somebody so little would have to go through all this,” Betty Graham recalled.

“I loved Dr. Mas right off the bat. She gave me so much hope, I kind of saw through her eyes that it would be OK.”

The Grahams got a tour of the cardiac intensive care unit and met with the cardiovascular surgeon. It was also decided that she would have a Caesarian section so that the baby wouldn’t be too exhausted.

“That to me was a blessing, to know what was going to happen, to know this [ICU] is where he’s going to come,” Graham said.

From then until Elias’ birth, Graham had regular visits with Mas and the cardiovascular surgeon. In Elias’ case, he wasn’t growing enough so he was delivered at 34 weeks and cared for in ICU until he weighed 4 pounds and could undergo his first operation.

At Joe DiMaggio Children’s Hospital in Hollywood, Dr. Kat-chen Chan, chief of pediatric cardiovascular and interventional services, said making a diagnosis is the first step.

“The other thing is to convey information to the parents. It’s like grief. It’s basically shock, denial, anger. We have the parents sit down with us, take time to reassure them, that with today’s technology, our survival rate is almost 96 percent,” Chan said.

“Our job is that we need to provide counseling, provide information. Most of the kinds of simple congenital heart disease can be corrected in one surgery.”

The new team approach at Miami Children enables the parents to meet with all of the specialists the same day.

“And,” Mas said, “if there’s going to be something else like a kidney problem or a neurological issue, we have the specialists available to meet with them at the same time. So you don’t have to be going to a million appointments.”

Some defects, such as fetal arrhythmias, require immediate attention by a fetal cardiologist. But most cases involve surgery after birth.

Even when there is a serious heart defect, prenatal systems allow for blood circulation to continue normally in the womb until after the baby separates from the placenta and the specialized fetal structures start to close down, Mas said.

“Sometime, the closure occurs late and the baby will look OK for a few days. The baby can become very ill, turning blue, blood pressure falling, not feeding well, breathing too fast because they don’t get enough oxygen. Prenatal diagnosis allows us not to let that happen,” Mas said.

Said Chan: “You can avoid true emergencies by having a good- quality fetal cardiology service.”

“We have a plan of action even before the baby is born,” Mas said. “We know what kind of medications; we can even know to clear the schedule so the surgeon will be available. Part of why the surgeon has great results is because the patient is in excellent condition.”

“I think many lives are saved because of that. And these kids end up doing very, very well," Mas said.

Such is the case with Elias Graham. At 14 months, “he’s doing great. You’d never know this baby went through so much,” Betty Graham said.

There’s more good news for the Grahams. They are expecting a daughter in July.

Said Mas, “I’ve already imaged that baby at 16 weeks and she is normal.”

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