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Federal Govt. May Push For Statewide Standard For Newborn Screening

Posted March 7, 2005

— New moms and dads do not rest easy until they know their newborn baby is perfectly healthy. Genetic testing for many rare diseases differs from state to state. Now, the federal government may soon recommend the same level of testing in every state.

When Annika Divan was born, she had a routine blood test to check for a whole host of potential genetic diseases. Most parents are not aware these tests take place.

"We've identified a couple of kids in our practice that turned out to have a complete absence of the thyroid gland which, if not picked up by newborn screening, would present later on with devastating and often irreversible clinical symptoms," said Dr. Palmo Pasquariella, of Global Pedriatrics.

A federal advisory group now plans to recommend all newborns be screened for 29 rare medical conditions. North Carolina tests for 31, but the number varies from state to state. The tests look for defects in a child's genes.

"I think we should take the approach that we should do everything that we can to identify whatever we're able to identify," Pasquariella said.

The test sounds straight-forward, but not everyone agrees. First, a positive test does not guarantee a child will get sick. Critics said it may make some parents worry for no reason. Second, there is no cure for some of the conditions.

"It makes you wonder, 'Do you even want to test for it?' or do you find out about it when it's time to find out about it," said Dr. Vamil Divan, Annika's father.

Federal advisors are expected to recommend the testing policy in the coming weeks. The Department of Health and Human Services will then make the final decision.


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