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The Tiniest Hearts:

New Screening Guidelines for Congenital Heart Disease

Congenital heart disease (CHD) is a leading cause of death in infants. Of the 4baby heart million babies born in the United States each year, 40,000 will have congenital heart disease. And of those cases, 10,000 will be severe. 

The difficulty lies in catching all those cases, as some newborns with critical congenital heart disease can seem perfectly healthy when sent home from the hospital. “The challenge,” says University of Virginia pediatric cardiologist G. Paul Matherne, MD, MBA, “is finding this needle in a haystack - asymptomatic babies with severe disease - and bringing these children to medical attention before they become critically ill or die.” 

Conservative estimates, Matherne says, suggest that unrecognized congenital heart disease kills 100 to 200 babies each year in the United States. 

Uncovering hidden heart defects

A simple, painless test being performed at the University of Virginia Health System, however, can detect many of these conditions. And the U.S. Secretary of Health and Human Services, Kathleen Sebelius, is recommending that hospitals around the nation follow suit. 

Widespread adoption of the screening, the secretary says, could help detect structural heart defects and save infants’ lives. 

“While oximetry testing is used in many situations, the screening is not for sick babies. This is a screening test for babies who appear normal to families and to providers,” Matherne says. “It is quick, it is simple, it is low cost, and it can be life saving and/or reduce disability.” 

About the screening

To detect CHD that would otherwise go undiagnosed, UVA conducts pulse oximetry screenings on all newborns. While the screening’s name sounds complex, the procedure itself is remarkably simple: a probe is taped to the infant’s hand and foot. It’s entirely painless and extremely quick, taking only 30 seconds to a minute. 

The screening evaluates the baby’s blood oxygen level. If the level is low, that could signal the presence of CHD or other serious health conditions. 

The test serves as an extra safety net in detecting CHD. “While most cases of critical CHD are discovered either through prenatal ultrasounds or clinical diagnosis,” Matherne says, “2 to 4 percent of babies with critical CHD will be sent home undiagnosed.The 

Evaluating the test

While there are clear benefits to the screening, some physicians and public-health officials have expressed concerned about the cost and anxiety that could result from a false positive result. That would require additional medical testing and keep the baby in the hospital.

Matherne, however, says, the occurrences of false positives are extremely low, and he and others maintain that the benefits of the screening far outweigh any downside. 

UVA’s screening program helps new parents rest easier knowing that their child isn’t suffering from a symptomless but potentially deadly heart condition”. 

As such, he sums up his support for widespread pulse oximetry screening in only a few words: “It is,” he says, “the right thing to do.”

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