photo by Dana Johnson
Pediatrics academy pushes for newborn screening
The American Academy of Pediatrics is recommending that all states adopt a policy of expanded newborn screening; the same policy Tennessee adopted on its own last year. Since the beginning of testing, several Tennessee babies have been discovered to have one of the disorders that were previously not tested.
One of these babies is 4-month-old Joseph Stuewe, who was born without a crucial enzyme that breaks down certain fatty acids in the body. Babies with metabolic disorders like his can die suddenly — and until now — without explanation. But with expanded newborn screening, for the first time, deaths and serious side effects of these rare disorders have become preventable.
“Had he been born 13 or 14 months earlier, he might have had serious problems,” said Rizwan Hamid, M.D., assistant professor of Pediatrics at the Monroe Carell Jr. Children's Hospital at Vanderbilt. “The first event is often critical. They die from sudden infant death syndrome (SIDS), or present to the emergency room either having stopped breathing, or they have lungs filled with fluid.”
Stuewe, a robust 8-pounder at birth, appeared perfect in every way and went home on schedule, but then came a phone call.
“They said the newborn screening had showed there might be a problem, but they said it was so rare and that the test could have false positives, but they wanted to re-test him to be sure,” said Joseph's mother, Lindsey. “We weren't concerned at all until they called three days later and asked us to come in again — that day.”
Joseph had a disorder called VLCAD. It only occurs in one in 40,000 births, and it's only been widely described and studied for about three years.
The AAP's new recommendation is an endorsement of a report on newborn screening that recommends all states begin testing newborns for 29 disorders, including VLCAD, a day or so after birth. The report was prepared by the American College of Medical Genetics for the Maternal and Child Health Bureau of the U.S. Health Resources and Services Administration.
At the beginning of 2004, the state of Tennessee purchased lab equipment capable of taking a small sample of a newborn's blood and checking it for all 29 of those disorders, and more. Tennessee tests for key signs of up to 60 disorders. That kind of broad screening is only offered in about 16 states right now.
Experts in the Division of Pediatric Genetics at VCH review the results from the state lab and work with parents to perform confirmatory testing.
Joseph Stuewe is on a formula designed to be low in long-chain fatty acids. He is also on a supplement thought to help the body make better use of fatty acids; remarkably simple fixes for such a rare and potentially deadly disorder.
The Stuewes will have to be more vigilant than most parents when Joseph gets the normal viral illnesses that tend to keep babies from eating well. The family says that is a small price to pay, considering what newborn screening appears to have prevented.
Annually, 4.1 million newborn babies are screened for congenital disorders in the United States and 5,000 infants are diagnosed each year with a congenital disorder.
But each year, more than 1,000 newborns go undetected for conditions that could have been identified through newborn screening because the administration of newborn screening is not uniform throughout the United States.
Currently, newborn screening is an individual function of each state, and screening programs vary widely. While every baby born in the United States has some newborn screening, it's possible because of the wide variations between states for a baby born in one state to be screened for as few as three conditions, while across the border in another state the same baby could be screened for more than 30 disorders.