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Missouri to begin screening for 20 additional genetic disorders

Originally published Jul 2005

July 1, 2005, ST. LOUIS - Nearly 75,000 babies are born in Missouri every year. At Barnes-Jewish Hospital, the 3,200 babies delivered yearly will begin receiving a new set of screenings due to a new state law that will make sure they leave the hospital with a healthy and safe start.

Effective July 1, Missouri will start mandatory testing on newborns for an additional 20 genetic disorders, up from current testing for five - phenylketonuria, galactosemia, congenital hypothyroidism, sickle cell anemia, and congenital adrenal hyperplasia.

Dr. Aaron Hamvas, medical director of the Newborn Intensive Care Unit at St. Louis Children''s Hospital and the Barnes-Jewish Hospital nurseries and professor of pediatrics at Washington University School of Medicine, says the screenings are crucial to identifying inherited defects before symptoms arise, which may not occur until many years later.

"This expanded screening will identify more babies with these inherited disorders and who can get help before the disease becomes symptomatic," Dr. Hamvas says. "Discovering and treating the problem early can prevent or decrease the long term morbidity due to these diseases."

Despite testing for these additional 20 disorders, the tests only use the same amount of blood that is obtained for the existing screening program. A blood specimen is taken from the baby''s heel before the infant is discharged from the hospital. The specimen is sent to the Missouri Department of Health and Human Services'' State Public Health Laboratory to be analyzed. Because law mandates the screenings, private or public insurers must pay the $50 cost of the test.

In the event of a positive result on the test, the family''s pediatrician and a pediatric genetic specialist will be notified, and they will contact the family for further testing.


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