For a newborn child, a simple blood test can mean the difference between severe disability and normal development.
Before the test for phenylketonuria became widely available several decades ago, most babies born with PKU developed mental retardation and cerebral palsy.
But a special diet, if started early, can be highly effective in preventing retardation, experts say.
The procedure for drawing blood samples to test newborns for PKU and other inherited diseases is quick and simple.
“The state has been screening newborns since 1966 for PKU,” explains Lib Moore, unit head for genetic health care and the newborn screening program in the state Division of Public Health. “It was the first newborn screening test that was made available nationally.”
One recent Friday morning, newborn Peyton Mills had his “heel stick” in a matter of minutes, right in his mother’s hospital room at Memorial Mission Hospital.
His parents, Jennifer and Kevin Mills, had no hesitation about letting their child get tested.
“Anything that ‘s for the baby’s health and well being — I don’t see why not,” said Jennifer.
Using a “tenderfoot” blade designed especially for newborns, phlebotomist Mary Schenck made a quick incision in the infant’s heel. Not surprisingly, he let loose a lusty yell. Schenck then drew the baby’s blood into a glass pipette and emptied it onto a filter paper, which was attached to a form with the baby’s name and other medical information.
After Schenck had enough blood to fill five circles on the form, she bandaged up the baby’s foot and went on to the next infant.
Each form is placed on a drying rack, then sealed in a plastic bag and mailed to the state lab in Raleigh, Schenck explains.
“To make sure that infants are given the PKU testing during the ideal time, it is our practice at Mission St. Joseph’s to keep babies in the hospital until they are at least 24 hours old,” says Lou Hammond, vice president of the Helen Powers Women’s Health Center and the Ruth and Billy Graham Children’s Health Center (both part of the Mission St. Joseph’s Health System), in a written statement provided in response to questions from Xpress.
If parents refuse to let their child be tested, Hammond reports that hospital personnel will talk with them, stressing the importance of the screening and trying to persuade them to have the test done. If the parents remain adamant, hospital workers ask them to sign a statement documenting their refusal.
“Finally, we now go ahead and fill out the special screening card for the baby and send it immediately to the state, even though it does not have the blood samples on it,” says Hammond. “One look at the card shows that the baby has not been tested. This alerts state health officials.
“If, for any reason, parents consent to the blood test but decide to leave the hospital before 24 hours, we still perform the blood test — even though it is sooner than the ideal time,” Hammond notes.
“All these steps,” says Hammond, “give us the best protection we can provide to make sure that this critical test is administered and that newborns have the advantage of early testing and detection.”
The state lab analyzes the samples, screening for PKU, sickle cell anemia, and certain other conditions. If the blood sample isn’t sufficient or a case appears borderline, the state sends a letter to the parents, saying the child should be retested. If a child is dangerously at risk for PKU, Moore calls the baby’s pediatrician to arrange for a repeat test.
All babies diagnosed with PKU are referred to UNC-Chapel Hill, where they’re put in contact with a specialist who monitors the infant and helps the family manage the baby’s diet with a special formula to control their protein intake.
Statewide, says Moore, five or more babies a year are diagnosed with PKU.
“The only way a baby is going to slip through the cracks is if a baby is discharged from the hospital, [and] they don’t send in a specimen,” Moore emphasizes. “To my knowledge, our lab has never made an error, nor have we not followed up on a case that looked suspicious.”
What you can do
Although most newborns are born normal and healthy, a routine doctor’s exam may not detect certain health problems. That’s why blood tests are used to screen babies for serious medical problems whose effects can be lessened by immediate treatment, according to state Health Department literature.
Here’s what parents can do to make sure the crucial test has been performed:
• Check your infant’s heel to see if the baby has a tiny, round bandage, indicating that blood was drawn.
• Ask hospital personnel whether a metabolic screening test has been done.
• If asked to bring in the baby for a repeat test, do so immediately.