Simple Screening Catches Newborn’s Hidden Heart Condition

Photo: Courtesy of the Villegas Family.

Before he was discharged from the hospital, baby Gaël Villegas received the standard panel of newborn screenings to check for genetic and metabolic diseases and hearing. The results showed a healthy baby. Then, one more screening — a non-mandatory test that Mattel Children’s Hospital UC LA routinely offers — was performed to check for critical congenital heart disease, or CCHD.

The test, known as a pulse oximetry screening, detected a problem. Baby Gaël was soon diagnosed with a condition that prevented his blood from flowing properly. At seven days old, he underwent a six-hour open-heart-surgery to repair the defect. Had it been left undetected and untreated, Gaël would have eventually ended up back in the hospital in serious condition.

“Without the screening, we would have taken him home thinking that he was perfectly healthy,” said Gaël’s father, Davis Villegas. “When they did the test and told us about his heart condition, it was hard news to get, but now we see that it was a blessing in disguise. It was better to know about the problem from the beginning so they could fix it.”

While UCLA has been performing pulse oximetry tests voluntarily for the past year as part of its overall program to provide the best methods for early detection and the prompt initiation of appropriate therapies for CCHD, recently passed legislation mandates that all babies born in California hospitals be screened for CCHD starting July 1. “This test is important because it enables us to discover critical congenital heart disease in some babies at a time when they are not yet showing any other signs or symptoms,” says Jeffrey Smith, MD, professor of neonatology. “If the problem is not detected before discharge from the hospital, these babies are at risk for rapidly becoming seriously ill or even dying at home. Early detection using pulse oximetry screening gives the baby the best chance for a good outcome.”

“As pediatric cardiologists, we see the devastating effect that delays in the diagnosis of congenital heart disease can have on these babies when they present later with problems that could have been prevented,” says Mark Sklansky, MD, chief of pediatric cardiology at UCLA. “Newborn pulse oximetry screening, along with the recent revision of prenatal ultrasound screenings to expand the routine evaluation of the unborn baby’s heart, exemplifies how the field is recognizing the need to move toward earlier detection of heart defects.”

Congenital heart disease represents the most common form of birth defect, as well as the leading cause of birth-defect-related death. Congenital heart defects occur in one out of every 100 live births. Approximately 25 percent of these are classified as critical congenital heart defects, requiring intervention within the first weeks or months of life. Complex congenital heart defects can range from a hole between the chambers of the heart to the absence of one or more valves or chambers.

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