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Screen detects rare but dangerous heart defects

Mat and Danielle Malek of Grand Forks, spend time with their newborn baby, Parker Malek, at Altru Hospital in Grand Forks. Parker was born Dec. 30 (2.5 weeks ahead of his due date, his parents said). Effective Aug. 1, 2013, according to a law passed by the 2013 North Dakota Legislature, all newborns in North Dakota are tested using pulse oximetry for critical congenital heart defects, which are not visibly apparent in the first days of life. (Eric Hylden/Forum News Service)

GRAND FORKS — A baby may look pink and perfect at birth but could have heart problems that are not visibly evident before the newborn leaves the hospital, according to a neonatologist with Altru Health System in Grand Forks.

“It takes longer than, say, 24 to 48 hours — when baby is ready to go home — to detect such problems,” said Dr. Durga Panda. “The full picture is not going to be visible.”

To identify babies at risk, the 2013 North Dakota Legislature added a test, or screen, that hospitals and birthing centers are required to perform on newborns.

Nationwide, while the number of cases of cardiovascular diseases in newborns is small, “occasional ones had fallen through the cracks,” Panda said. “That’s why the screen was added.”

Pulse oximetry, a painless procedure that takes a few minutes, alerts doctors to the possible presence of heart defects, he said. It gives them “an indication (of) if we need to investigate further.”

The screen, which measures oxygen in the blood and pulse rate, is done with a device that’s attached to the finger or foot usually between 24 and 48 hours of birth and before hospital discharge, he said.

“If results are negative, (meaning) the saturation of blood oxygen is normal, it’s unlikely there’s a heart defect,” Panda said.

If results show there is a problem, “then we do more sophisticated tests.”

Altru physicians have been doing congenital cardiac screening “on all newborns for about two years,” Liz Malm, a registered nurse and patient care supervisor in the Family Birth Center, said in an email.

“We started when the American Academy of Pediatrics recommended the testing. We had been testing for about 18 months when the state passed legislation.”

Congenital heart defects account for nearly 30 percent of infant deaths due to birth defects, according to the federal Centers for Disease Control and Prevention, which also recommended the screen.

In the U.S., about 7,200 babies born every year have critical congenital heart defects, the agency website states. In 2012, 11,503 babies were born in North Dakota hospitals, according to Carmell Barth, research analyst with the state Department of Health. Similar data for 2013 are not yet available, she said.

Earlier detection

“Heart defects, especially critical ones, need intervention immediately,” Panda said. “The sooner it’s detected, the quicker treatment can begin.”

For those babies who need immediate attention, there’s a “golden window” of opportunity for doctors to identify the problem and intervene, he said.

That intervention could be an echocardiogram or another test to determine what exactly doctors are dealing with, he said.

Heart defects typically require surgery, he said. Or they could be treated with medication for “a few defects that are not as bad, or if you need to buy time. It all depends on the diagnosis.”

Pulse oximetry screens for seven dangerous congenital heart defects, Panda said.

Depending on the type of defect, if untreated, problems can develop as a result of less oxygen being delivered to the brain and certain organ systems in the body, he said. “They can even cause death.”

The number of deaths is “much higher if you don’t pick it up immediately,” he said.

If undetected, problems caused by heart defects eventually show up, he said. “You can go a while before problems present themselves, before the damage is seen.”

Before this screen was in use, babies with heart defects could, a few days or weeks after going home, exhibit symptoms such as turning blue, feeding less, getting tired and being less active.

“They would ‘crash,’ “ he said. “Their blood pressure would drop. Their oxygen level starts falling rapidly.” These situations would require emergency care.

Blood circulation is different in the womb than after birth, Panda said. Before birth, the fetus, whose lungs are not functioning, depends on blood from the mother. After birth, the baby’s lungs take over the work of providing oxygenated blood to the body.

Most babies transition to their own circulation system with no problem, he said. But sometimes the blood “plumbing or circuitry is not normal.”

Troublesome signs of possible heart defects are directly linked to the level of oxygen in the blood, he said.

June Herman, regional vice president for advocacy with the American Heart Association in Jamestown, lobbied for the pulse oximetry newborn screening bill in the Legislature.

“I think every parent would love to know (if there’s a problem) before they leave the hospital,” she said.

Herman cited a Dec. 30 story in The Forum of Fargo-Moorhead about then-18-year-old North Dakota State University student Adriana Norberg. Her genetic heart defect was not discovered until she went into cardiac arrest in September 2012 in Fargo, and subsequent medical care revealed her heart condition.

Other screening

Until recently, the only other mandatory newborn screen was blood spot screening, or “heel prick test,” which is also done 24 to 48 hours after birth, said Becky Bailey, director of the newborn screening program for the state Health Department.

That test screens for more than 40 conditions, including cystic fibrosis, congenital hypothyroidism, sickle cell disease and brain abnormalities, which “could cause disease or death if not dealt with in a timely manner,” she said.

Medical intervention may be as simple as a change of diet, she said, as in cases of phenylketonuria, or PKU, a genetic disease in which a particular amino acid is not properly broken down by the body.

If undetected, PKU can lead to intellectual disability, seizures and other serious medical problems, according to If diagnosed early, the patient who follows a strict diet can live a normal life.

“It’s always best to have timely detection,” Bailey said. “It’s important to have a coordinated approach and follow through for families with newborns who are affected by these conditions and need intervention.”

Guidelines for newborn screening are set by the U.S. Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children, she said.

“The goal is to reduce morbidity and mortality in newborns and children who have or are at risk for heritable disorders,” Bailey said.

In 2014, North Dakota’s newborn screen program is marking its 50th year, she said. “It all started with (screening for) PKU.”

Since the law requiring the pulse oximetry newborn screen took effect Aug. 1, Herman said she knows of babies with heart defects who have been discovered and treated in Minot and Bismarck.

In Grand Forks, Panda said, “We’ve found a few kids who needed further tests and investigation. I (found) a heart defect that, thankfully, was not too dangerous.

“We’ve had good success with this screen. It takes away the guessing.

“It’s important because (baby’s first days are) supposed to be the most critical time of life,” he said. “If you’ve missed this, you’ve missed the boat.”