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Infant screenings expanded

Thursday, July 17, 2008

Arkansas infants will be screened for 22 new genetic disorders thanks to the recent expansion of the state newborn screening program.

Before the new regulations took effect July 1, screenings for only seven conditions were required in Arkansas. The new requirements now align with the current national recommendations.

"Early detection is always valuable in our minds," said Bob West, medical director of newborn screening and deputy chief of the family health branch of the Arkansas Department of Health. "We can't prevent the disease but we can prevent long-term complications."

Prior to the new requirement, the seven disorders the state checked for were three sickle cell diseases along with phenylketonuria (PKU), congenital hypothyroidism, galactosemia and hearing loss.

The new screenings, which are ran through a tandem mass spectrometer, allow for the state to now test for an additional 20 disorders which are divided into three main groups: amino acid disorders, organic acid disorders and fatty acid oxidation disorders. One of the screenings also replaces the old test for PKU.

"It spits out a lot of information all at once," West said.

Three other disorders are also now screened -- cystic fibrosis, biotinidase deficiency and congenital adrenal hyperplasia.

The changes in the screening were brought about by a study performed by the American College of Medical Genetics. The college was commissioned to look at the state of newborn screenings in America. The college found the screenings are not uniform and the requirements vary from state to state.

The college then met with a group of more than 250 experts in newborn screenings and genetics and had them rank more than 80 disorders by importance. That list the experts developed results in the new list of core conditions the college thought the nation should require for screening. Another list was also developed to possibly be added in the future.

While other states soon began to add to their requirements over time to meet the college's recommendations, Arkansas did not. Instead, the state added all of the new tests all at one time.

"We're doing everything all at once and very few states have attempted to do this," West said. "We're basically doing all of this overnight."

The screenings are typically performed in the hospital before the mother and child are released. All of the tests, with the exception of the hearing tests, are performed by a simple blood test. The heel of the newborn is pricked and a few drops of blood are collected.

All of the tests on the blood are conducted at the Arkansas Department of Health Newborn Screening Laboratory with the exception of two tests -- cystic fibrosis and congenital adrenal hyperplasia. Both are performed at the lab at Arkansas Children's Hospital.

If the results of the screenings are not normal, the baby will require repeat tests at a hospital or local health unit to see if the child does in fact have the disorder.

"A positive screen doesn't mean they have a disorder," West said. "We have a lot of false positives."

If the baby is found to have the disorder, early treatment yields the best health for the child.

"Some of the treatments are extremely simple (requiring a daily pill) and some others are quite entailed," he said.

Of the true positive results received by the state of the seven original tests, most of the positive results were related to hearing. Those positive results were found in about 70 babies a year, still a miniscule amount when compared to the 40,000 annual births in the state each year.

"There's not a huge number but it's important to find them," West said.

Of the other six tests, about 40 infants tested positive each year. He expects another 30 to 40 children a year will be diagnosed through the additional screenings.

"These are still mostly rare genetic defects," he said. "They are not common disorders."

The cost of the screenings had been $14.83. With the expansion of the program it now costs $89.25.

"If you can prevent a case of severe mental retardation it's worth it," West said. "The benefits overall more than pay for the cost of the program."

The Arkansas Department of Health received approval from the Arkansas Board of Health to move forward with plans for the expansion of the screening program in October 2006. The department received legislative approval for the expansion in the spring of 2007. In November of that year the board of health approved the revised rules and regulations pertaining to newborn testing. Those rules and regulations became effective this month.

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