The goal of newborn screening is early identification of newborns at increased risk for selected metabolic and inheritable diseases so that medical treatment and follow-up can be provided to these newborns and their families. Early identification of these conditions is crucial so that timely intervention can lead to improved outcomes and healthy lifestyles for these children and their families. As of April 21, 2008, the state of Alabama meets March of Dimes Gold Standard for newborn screening of at least 29 inheritable conditions and hearing screens, with the addition of Cystic Fibrosis.
Newborn screening is a series of blood and hearing tests which are mandated by Alabama state law and Board of Health rule. These tests are administered within the first few days of an infant’s life and target up to 29 primary and approximately 20 secondary disorders. Although relatively rare, the consequences of these largely unseen and hard to find disorders can be devastating.
Without the early detection provided by newborn screening these disorders might profoundly and permanently affect an infant. Untreated, some disorders may result in severe mental retardation or even death. The earlier these disorders are found the better the chances for a cure or at least the reduction of their severity.
Cystic fibrosis is an inherited, chronic disease that affects the lungs, digestive system and fertility of about 30,000 children and adults in the United States. Approximately 1,000 of these cases are being treated in Alabama. Cystic fibrosis center directors at UAB, Children’s and USA predict that with the addition of the cystic fibrosis test to the newborn screening panel an additional 20-30 new infant cases will be identified each year. Detection will allow these children to begin treatment at the earliest possible moment. While there is no current cure for cystic fibrosis, early detection and treatment can improve growth and lung function and as a result provide an opportunity for our children to lead longer, healthier lives.
To learn more about Newborn Screening and the various inheritable conditions go to:
Lisa Carter is the Region 1 Perinatal Director for the Alabama Department of Public Health.
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