Simple screening test at UCLA catches newborn's hidden heart condition

June 4, 2013

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 UCLA routinely offers—was performed to check for critical congenital heart disease, or CCHD.

The test, known as a 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 with Dr. Hillel Laks, a professor of cardiothoracic surgery at UCLA, 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," said Dr. Jeffrey Smith, a professor of at Mattel Children's Hospital UCLA who oversees screenings in the at the hospital's Westwood campus. "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."

The simple, non-invasive, low-cost test takes only a few minutes to perform. A nurse attaches a probe to a baby's foot or hand with an adhesive wrap to estimate the percentage of hemoglobin that is saturated with oxygen. Low levels of oxygen can signal a potential problem. If a problem is detected, the infant is then given a diagnostic echocardiogram. Pulse oximetry screening does not detect all congenital heart diseases, so it is possible that a baby with a negative screening result may still have a problem.

"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," said Dr. Mark Sklansky, a professor and 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.

"Early detection provides the opportunity to plan ahead for appropriate delivery and immediate initiation of the appropriate management of the heart defect once the baby is born," he said. "For major forms of congenital , early detection facilitates optimal outcomes."

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.

"We are pleased that California is one of the nation's early adopters of this important screening, and we hope that all states will implement this test as a routine part of their neonatal programs," said Dr. Thomas Klitzner, the Jack H. Skirball Professor of Pediatrics and director of the Pediatric Medical Home Program at Mattel Children's Hospital UCLA. Klitzner participated on both the national and state task forces

Explore further: Newborns should be screened for heart defects, study shows

Related Stories

Newborns should be screened for heart defects, study shows

May 2, 2012
There is now overwhelming evidence that all babies should be offered screening for heart defects at birth, according to a major new study published online in The Lancet.

Simple screening test identifies heart defects in newborns

August 5, 2011
A simple test to measure blood oxygen in newborns has been shown to identify babies with life-threatening congenital heart defects, a major cause of infant mortality in the developed world, according to researchers from the ...

Pulse oximetry: A viable screening tool for infants with suspected congenital heart disease

October 14, 2011
Pulse oximetry, a non-invasive procedure that measures the amount of oxygen in the bloodstream, can be used as a screening tool to detect critical congenital heart disease (CCHD) in infants, and is more readily available ...

Newest screen for newborns will indicate heart problems

August 22, 2011
About 1 in every 120 babies are born with congenital heart disease (CHD), of which about 25 percent is critical, requiring special care early in life. CHD is responsible for more deaths in the first year of life than any ...

Swedish heart test saves lives of newborns with heart defects

October 11, 2011
The US Secretary of Health recently supported a recommendation that all babies born in the US are to be screened for critical heart defects, before leaving hospital. Behind this decision is a study from the Sahlgrenska Academy ...

UCLA docs guide mom with heart condition through birth, operate on newborn

February 14, 2012
Keyota Cole was born with a bad heart. The 33-year-old from of Bakersfield, Calif., suffers from a congenital heart disease called Ebstein's malformation of the tricuspid valve, and from abnormal pulmonary veins. She ...

Recommended for you

How genes and environment interact to raise risk of congenital heart defects

October 19, 2017
Infants of mothers with diabetes have a three- to five-fold increased risk of congenital heart defects. Such developmental defects are likely caused by a combination of genetic and environmental factors. However, the molecular ...

Mouse studies shed light on how protein controls heart failure

October 18, 2017
A new study on two specially bred strains of mice has illuminated how abnormal addition of the chemical phosphate to a specific heart muscle protein may sabotage the way the protein behaves in a cell, and may damage the way ...

Newborns with trisomy 13 or 18 benefit from heart surgery, study finds

October 18, 2017
Heart surgery significantly decreases in-hospital mortality among infants with either of two genetic disorders that cause severe physical and intellectual disabilities, according to a new study by a researcher at the Stanford ...

Saving hearts after heart attacks: Overexpression of a gene enhances repair of dead muscle

October 17, 2017
University of Alabama at Birmingham biomedical engineers report a significant advance in efforts to repair a damaged heart after a heart attack, using grafted heart-muscle cells to create a repair patch. The key was overexpressing ...

Physically active white men at high risk for plaque buildup in arteries

October 17, 2017
White men who exercise at high levels are 86 percent more likely than people who exercise at low levels to experience a buildup of plaque in the heart arteries by middle age, a new study suggests.

High blood pressure linked to common heart valve disorder

October 17, 2017
For the first time, a strong link has been established between high blood pressure and the most common heart valve disorder in high-income countries, by new research from The George Institute for Global Health at the University ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.