April 11, 2013

Newborn screening program championed at VU helps save boy

John Isaac Stone Seabolt was born Feb. 26, less than two months after a new state law went into effect encouraging the screening of newborn babies for “silent” heart defects.

Natalie and Lynn Seabolt hold their 6-week-old son, John, in position for X-rays under the direction of technologist Kenneth Rippetoe. (photo by John Russell)

John Isaac Stone Seabolt was born Feb. 26, less than two months after a new state law went into effect encouraging the screening of newborn babies for “silent” heart defects.

The program, championed by experts at the Monroe Carell Jr. Children’s Hospital at Vanderbilt, now counts Seabolt as its first success story.

The pulse oximetry screening for critical congenital heart defects (CCHD) is so new that when Seabolt failed it at University Medical Center in Lebanon, there was some hesitation about how urgently to react. His APGAR tests were excellent, a chest X-ray was normal, he was eating well and his pediatrician found no evidence of heart trouble.

The baby’s mother, Natalie Seabolt, is a pediatric nurse practitioner. She said it was even difficult for her to fully understand what her son’s results meant.

“Everyone was trying not to worry. But my friends in the newborn nursery kept re-testing him and finally insisted we should talk with one of the cardiologists at (Children’s Hospital). When I talked to the cardiologist, he said ‘Oh my gosh, I have to see him as soon as they discharge you,’” Seabolt said.

Within three days of his newborn screening for CCHD, baby John Seabolt was admitted to Children’s Hospital. An echocardiogram confirmed he had a serious narrowing of the major vessel that leaves the heart, called coarctation of the aorta. Untreated, this narrowing generally progresses. A newborn’s tiny heart, working hard to pump against an extra small opening, could quickly become exhausted, leading to life-threatening cardiac distress.

“I have taken care of blue babies before, and it’s not fun,” Natalie Seabolt said. “I was so glad we didn’t take him home for the weekend before he was seen.”

Baby John had surgery to correct the defect at Children’s Hospital the following Monday morning, at just 6 days old.

“I have been working in neonatology since 1981, and every year one or two babies come back after going home. They come back in bad shape from these critical congenital heart diseases,” said William Walsh, M.D., professor of Pediatrics and chief of Nurseries at Children’s Hospital, who led efforts to refine the new pulse oximeter screening tests for the state.

Walsh said Seabolt represents the 1 in 10,000 babies whose lives may be saved with this new screening. In several rare forms of congenital heart disease, the effect of a heart defect may be delayed long enough for the baby to go home, apparently normal and healthy, but soon develops complications, delaying treatment and increasing the risk of serious brain or organ damage or even death.

State Sen. Doug Overbey (R-Maryville), who had an undetected congenital heart defect himself at birth, first approached Walsh about devising a test in 2005. As chair of the state’s Congenital Heart Disease Subcommittee of the genetic advisory committee, Walsh worked over the course of the next seven years to determine how the test could be administered without too many false positives to both alarm new parents and increase the incidence of unnecessary medical testing.

Nurses in newborn nurseries have for years tested newborn babies to see if enough oxygen is circulating in their systems by attaching a special light meter to the skin of the baby’s foot. In the new screening, a baby that has a reading of less than 96 percent must then also have a reading taken from his or her right hand for comparison.

About one in one hundred babies who otherwise appear normal might “fail” the first test. But for most babies this won’t be the definitive test, just an indication that their oxygenation is low enough to require another test an hour later.

The goal is to pick up subtle differences between the oxygen levels of the baby’s upper and lower limbs. If the difference is great enough and persists for two hours and two tests, the baby has a 20 percent risk of having a critical congenital heart defect. It is estimated that between six and 12 babies in Tennessee will have a serious heart defect diagnosed every year because of this screening.

Baby John Seabolt sailed through his surgery and recovery at Children’s Hospital with flying colors. Now, the Seabolts say they will do what they can to share their story in support of the new law.

“You never know. This is not something we expected at all. I am a proponent of prevention, supporting public health initiatives like vaccination, so this is great. Now this new prevention test has touched my son and I would like to be more involved,” Seabolt said.

The American Academy of Pediatrics has recommended pulse oximeter screening for CCHDs, and Tennessee is among the early adopters of CCHD screening. Other states include Connecticut, Indiana, Maryland, New Hampshire, New Jersey, Virginia and West Virginia.