Screening newborns helps doctors detect heart defects

At 26 hours old, Hayes Hixon undergoes a pulse oximetry test in the nursery of Phoebe Putney Memorial Hospital. The test is recommended for infants at least 24 hours old to detect critical congenital heart defects.

At 26 hours old, Hayes Hixon undergoes a pulse oximetry test in the nursery of Phoebe Putney Memorial Hospital. The test is recommended for infants at least 24 hours old to detect critical congenital heart defects.

ALBANY, Ga. -- There are a number of things that can threaten an infant's life early on, among them congenital heart defects -- making screenings for such defects a critical component of newborn care, experts say.

Information from the Centers for Disease Control and Prevention shows that approximately 40,000 babies in the United States, accounting for nearly 1 percent of births, are born with some sort of congenital heart defect each year.

"If we do not test, it could have significant effects," said Dr. Donna Edmond-King, pediatrics department chair for Phoebe Putney Memorial Hospital. "The idea is to catch it before (it becomes life-threatening)."

Last month, Phoebe's nursery began regularly testing for the seven critical congenital heart defects with a pulse oximetry test. While still in the hospital, after the infant has reached 24 hours of age -- or as late as possible if the child is leaving sooner -- a device is placed on the child's right hand and on either foot to compare oxygen saturation levels.

"We will do the test as close to 24 hours of age (if they are leaving earlier) as possible to ensure accuracy, since the baby's circulation is changing in the first 24 hours," said Mindy Spender, neonatal outreach educator at Phoebe.

Spencer said that a congenital heart defect is found on average in eight of 1,000 births at the Albany hospital -- with 3 percent of those being considered critical.

"We might detect 24 in a year, and eight would be critical," she said.

If a child fails the test, it is run again twice to ensure the accuracy of the results. If the newborn still falls below the desired measure, the pediatrician is notified so that the infant can receive the necessary care, Spencer said.

"If the saturation level is low or really different, that is a good indicator they have a heart defect," she said.

Critical defects the test can find are hypoplastic left heart syndrome, pulmonary atresia, Tetralogy of Fallot, total anomalous pulmonary venous return, transposition of the great arteries, tricuspid atresia and truncus arteriosus. They are found in 7,200 babies a year, the CDC says.

In the event a critical defect is found, intervention starts immediately.

"The majority will need surgery in the first few weeks," King said. "The test may be negative (with there being a defect present), but it is 99 percent specific."

A work force of players came together in 2008, King said, to make the testing available to all infants. In 2011, the decision was made to add it to the regular panel of screenings.

"Georgia was the first to mandate it," she said. "We started exploring this over a year ago."

While it is vital for the defects to be caught as early as possible, such a problem could theoretically be found early enough at the child's first wellness visit -- assuming that visit is done when it is supposed to be.

"The child needs to be seen within five days of birth," King said. "We do head-to-toe exams and check vital signs. If the baby is not screened, (he or she) could be screened in the office."

Spencer said she saw the need for such testing from a 2005 case in which a baby who was just a few days old was admitted to the emergency room with a major heart defect that resulted in his oxygen saturation level getting dangerously low and him needing immediate cardiac help.

"The baby had definitely decompensated," she said. "Whether (a child) goes to the doctor or not, this could happen within the third day of life.

"... There are long-term quality of life consequences, such as organ damage (associated with defects that go undetected). Just catching one child saves money, but also saves quality of life. Not to do (the test) is not cost-effective."

On the other hand, catching defects early means a quality of life for the child in the long-term similar to that of their peers.

"There are limits in certain things, such as sports participation, and more doctors visits," King said. "Life expectancy is similar to that of their peers, but they take more medications.

"(The medications and restrictions associated with the defects) are trivial compared to the child living."

The first sign that something is wrong, both Spencer and King said, is that the child is not feeding well. Breathing may also be very quick, or the child may start to turn blue.

"Some die at home because the mother never catches it," Spencer said. "They may die in the crib as they sleep. Even if pediatricians do an excellent job with assessments, they can still miss it."

As of last week, there had been 150 babies screened at Phoebe, all of whom tested negative. The screening is done with full-term babies, as well as those who are staying in the neonatal intensive care unit for only a few days.

"If the baby is very premature, we don't do it," Spencer said. "They are on (pulse oximetry) 24/7, so we could pick up on it."

The test generally costs anywhere from $15-$100. So far, no parents at Phoebe have refused to have the test done.

"We give them information about heart defect screening," Spencer said. "I would feel more comfortable taking the infant home knowing they've done one more test. We can give them peace of mind."