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Newborn Screenings Now Required Across U.S.
Date:2/18/2009

All states mandate at least 21 tests for devastating conditions, report says

WEDNESDAY, Feb. 18 (HealthDay News) -- Four years ago, only about one in three babies in the United States was born in a state that required newborn to be screened for a host of conditions. But by the end of 2008, all 50 states and the District of Columbia had either laws or rules requiring newborn screening for at least 21 disorders, a new report finds.

"The states have really made outstanding progress in expanding newborn screening programs," said Jennifer Howse, president of the March of Dimes, which issued the report Wednesday.

The panel of tests checks for genetic, metabolic, hormonal and functional disorders, according to the organization. Many of the disorders cause no visible symptoms in a baby until after damage, often permanent, is done. Some of the disorders lead to mental retardation, and others end in death.

The first test that was made available was for phenylketonuria (PKU), a condition in which the body can't process part of a protein called phenylalanine. The disorder affects about one child in every 25,000 born in the United States, according to the March of Dimes. Left untreated, phenylalanine accumulates in the body and can cause serious brain damage and mental retardation. Changes in diet can prevent these problems from occurring, but the diet must be started soon after birth and followed for the rest of the child's life to prevent brain damage.

Another disorder now tested for is congenital hypothyroidism, which affects an estimated one in 5,000 U.S. babies. Replacement thyroid hormone is considered a simple and effective treatment for the disorder. But without a newborn screening test, treatment might not begin until the lack of thyroid hormone causes brain and growth retardation.

"Any time you can proactively identify a problem and treat it, you can avoid a lot of complications and lifelong consequences," said Dr. Jamie Grifo, a professor of obstetrics and gynecology at New York University Langone Medical Center in New York City. "Hopefully, we'll have a national standard on newborn screening that will benefit all children."

Howse said the March of Dimes continues to work toward that goal. As of last year, about half of all states tested newborns for all 29 conditions recommended by the American College of Medical Genetics. "We're going to remain in watchdog status and keep moving to close the gap," she said. "We're also going to pay close attention to make sure we keep the gains intact in this tough economy."

The March of Dimes estimates that about 4,000 babies with metabolic disorders were discovered via newborn screening in 2004, and another 12,000 were found to have a hearing impairment.

"Hearing problems are a more frequent occurrence, and it's important to catch when children are newborns," Howse said.

A complete newborn screening that tests for all 29 conditions costs about $100, according to Howse, and is covered by most insurance companies.

"What's more expensive is if the conditions are missed and kids need catastrophic care," she said. "And the human consequences are tragic."

Dr. Jerry Vockley, director of genetics at Children's Hospital of Pittsburgh, said that he can recall one devastating case from the pre-screening era in which a child had one of the disorders that's now tested for and ended up in intensive care for several months. He said the cost was between $500,000 and $1 million.

"It doesn't take too many of those kids to win back the cost of the entire screening program," Vockley said. "It's very cost-effective."

Vockley said he's glad for the state mandates because they might make it easier to garner resources to treat infants, but he pointed out that a lot of hospitals were doing the screening tests long before they became required by their state.

Howse recommended that expectant parents check with their doctor to find out what screening tests are done in the hospital and, if the testing doesn't cover all 29 conditions, that parents arrange to have the additional tests done.

More information

Read more about newborn screenings at the March of Dimes.



SOURCES: Jennifer Howse, Ph.D., president, March of Dimes, White Plains, N.Y.; Jerry Vockley, M.D. director of genetics, Children's Hospital of Pittsburgh; Jamie Grifo, M.D., Ph.D., professor of obstetrics/gynecology, New York University Langone Medical Center, New York City


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