Sunday, August 8, 2004

Babies to undergo more tests for disease

Ohio mandates 29 screenings, up from 13

By Matt Leingang
Enquirer staff writer

Beginning Aug. 16, newborns in Ohio will be screened for 29 genetic, endocrine or metabolic disorders before leaving the hospital.

Some of these disorders are rare but if left untreated can lead to mental retardation, slow growth and possibly death.

Ohio previously mandated testing for 13 disorders and gave parents the option of screening for an additional 16, but now those will be mandatory, too.

The decision to expand newborn screening was made because so many parents - at least 95 percent - were opting for the additional screening anyway, said Dr. Nancy Leslie, a clinical geneticist at Cincinnati Children's Hospital Medical Center who chairs the Ohio Newborn Screening Advisory Council.

Hospitals collect a small blood drop from a newborn's heel 24 hours after birth and send the sample to a state lab in Columbus. Results are usually available in a week.

Ohio's screening program is one of the largest, Leslie said. So is Indiana's, which requires testing for 30 genetic disorders. Kentucky requires only four.

Kentucky health officials have said that they don't plan to expand newborn screening because of budget constraints.

Genetic testing began in Ohio in 1965 with the phenylketonuria test. PKU is an inherited disease in which the body cannot metabolize a certain protein. Without treatment, PKU can cause mental retardation.

Despite their willingness to participate, many parents know little about the screening program, Leslie said.

Children's Hospital conducted a survey last year that showed parents rarely knew exactly what their baby was being screened for but supported the program, even if the test showed an abnormal result, Leslie said.

"Overall, parents are telling us that this is a good thing," Leslie said. "These disorders are treatable, and medical outcomes are improved with early diagnosis."

Technology is also driving the increase in newborn screening, Leslie said. Ohio and other states have added to their labs tandem mass spectrometry, where scientists can screen for dozens of disorders with a single test, instead of requiring multiple tests, saving time and money.



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