Newborn heart defect screening urged

Congenital heart disease is one of the most common causes of birth defects in newborns.

It results in more deaths in the first year of life than any other birth defect, but it's easily overlooked.

Now, a simple test could spot the problem sooner and help newborns get life-saving treatment.

First-time mom colleen Rugnier knows there's nothing like these moments.

Baby Everett isn't even two days old, but he's already had dozens of tests to make sure he's healthy.

"He's pretty easy-going. I'm impressed,” Rugnier said.

Today, doctors will check his heart. About one in 120 babies is born with congenital heart disease. About 25 percent will have a critical defect that requires urgent treatment, but these problems are hard to spot, according to Dr. Alex Kemper, associate professor of pediatrics at Duke University.

"The challenge is usually in a newborn nursery setting, these babies look completely normal,” he said.

Now, a test called pulse oximetry is helping doctors catch defects sooner. Pediatrician Kemper recommends all hospitals offer it.

The test is simple: nurses attach probes to Everett's right hand and foot. Then this machine measures oxygen levels in his blood.

"The test is basically based on shining a light through the skin and seeing how red the blood is,” explained Dr. Kemper.

A study of more than 20,000 newborns found when the test was used along with standard scans and exams, 92 percent of critical congenital heart defects were detected, and not one baby died because of a heart problem.

The test also had a false-positive rate of less than one percent. Everett passes with flying colors.

"It's reassuring because it's such a simple, noninvasive test, so you know, why not?,” said his mom.

Now, Rugnier can keep enjoying these moments knowing the heart of the boy who stole her heart is healthy.

Research Summary
WHAT IS CONGENITAL HEART DISEASE? : The seven defects classified as critical congenital heart defects (CCHDs) are hypoplastic left heart syndrome, pulmonary atresia (with intact septum), tetralogy of Fallot, total anomalous pulmonary venous return, transposition of the great arteries, tricuspid atresia, and truncus arteriosus. Babies with one these CCHDs are at significant risk for death or disability if their heart defect is not diagnosed and treated soon after birth. These seven CCHDs among some babies potentially can be detected using pulse oximetry screening, which is a test to determine the amount of oxygen in the blood and pulse rate. Certain hospitals routinely screen all newborns using pulse oximetry screening. However, pulse oximetry screening is not currently included in newborn screening in most states. Other heart defects can be just as severe as these seven CCHDs and also require treatment soon after birth. However, pulse oximetry screening may not detect these heart defects as consistently as the seven disorders listed as CCHDs. (Source:

HOW AND WHEN ARE BABIES SCREENED? : Pulse oximetry is a simple bedside test to determine the amount of oxygen in a baby's blood and the baby's pulse rate. Low levels of oxygen in the blood can be a sign of a CCHD. The test is done using a machine called a pulse oximeter, with sensors placed on the baby's skin. The test is painless and takes only a few minutes. Pulse oximetry screening does not replace a complete history and physical examination, which sometimes can detect a CCHD before oxygen levels in the blood become low.
Pulse oximetry screening, therefore, should be used along with the physical examination. Screening is done when a baby is 24 to 48 hours of age. If the baby is to be discharged from the hospital before he or she is 24 hours of age, screening should be done as late as possible before discharge. Pulse oximetry screening is not currently included in newborn screening in most states. (Source:

HOW ARE RESULTS MEASURED? : If the results are "negative" (in-range result), it means that the baby's test results did not show signs of a CCHD. This type of screening test does not detect all CCHDs, so it is possible to still have a critical or other heart defect with a negative screening result. If the results are "positive" (out-of-range result), it means that the baby's test results showed low levels of oxygen in the blood. This can be a sign of a CCHD. This does not always mean that the baby has a CCHD. It just means that more testing is needed. The baby's doctor might recommend that the infant get screened again or have more specific tests, like an echocardiogram (an ultrasound picture of the heart), to diagnose a CCHD. Babies who are found to have a CCHD also might be evaluated by a clinical geneticist. This could help identify genetic syndromes associated with these heart defects and inform families about future risks. (Source:

A WORD FROM THE DOCTOR: Alex Kemper, MD, an Associate Professor Of Pediatrics At Duke University says babies who live in cities with higher elevations - like Denver or Salt Lake City - naturally have lower blood oxygen levels, so states with higher elevations may have to alter their cutoff systems.

For More Information, contact:

Mary Jane Gore
Sr. Media Relations Specialist
Duke Medicine News and Communications
(919) 660-1309

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