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12.9.03
Newborn Genetic screening

Newborn screening for genetic diseases allows for earlier diagnoses and treatment.

The screening of newborn infants for several genetic diseases at once can help prevent mental retardation and other complications more effectively than testing done after symptoms develop. Dr. Dennis Crouse, professor of pediatrics and director of neonatology at SIU School of Medicine in Springfield explains the importance of early screening.

SOUND BITE: " . . .if caught very, very early, therapies can be started that will prevent the child from developing life-long illnesses or developmental delay and as the ability to get new machinery and be able to do multiple tests on smaller and smaller samples, ah we are now able to do many, many tests on just a small bit of blood taken from a heel stick on a newborn."

Dr. Crouse says the newborn screenings give parents piece of mind that the child does not have one of the rare genetic diseases. And if the child has a disease, medical treatment can be started earlier and hopefully prevent some of the diseases that might occur later. He says most of the diseases being tested for have to do with how the body uses nutrition.

SOUND BITE: "The ability to take food and process it into very small packets to be able to use for building bone, muscle and other tissue is a very complex process. Inside each of our cells is a group of proteins called enzymes that take nutrients and break them down to usable portions. In some people, these enzymes may be defective and don't work properly. . ."

Dr. Crouse says newborn screenings are now being done throughout Illinois with the screenings being processed by the Illinois Department of Public Health. To learn more about newborn screenings, contact your primary care physician.