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FOR RELEASE: May 31, 2006
State Newborn Screening Program Adds MCAD Testing
Beginning Monday, June 5, 2006, the Oklahoma State Department of Health (OSDH) Newborn Screening Program will expand its screening of genetic conditions to include testing for the metabolic disorder medium-chain acyl-CoA dehydrogenase deficiency (MCAD). According to state health officials, the additional testing will save lives and medical costs by allowing earlier diagnosis, intervention, and treatment of infants diagnosed with MCAD.
MCAD is a genetic disorder of fatty acid metabolism. This disorder can cause metabolic crisis when an infant or child fasts, leading to seizures, respiratory failure, cardiac arrest, and death. Treatment is effective by preventing fasting. Screening is projected to identify about two to three newborns a year with MCAD and will not only save lives but save the state thousands of dollars in medical costs.
The American College of Medical Genetics (ACMG) recommends all newborns be screened for 29 basic disorders. In screening for these disorders, another 25 extra disorders may be detected, for a total of 54 disorders. The OSDH has completed purchasing most of the laboratory equipment required to meet the ACMG recommendations. With the addition of testing for MCAD, Oklahoma will move to address recommended screening for additional metabolic disorders.
Studies have shown costs for hospitalizations and diagnostic procedures can easily exceed $500,000 for one infant. The cost for disability services and in some cases institutionalization for infants who do not receive prompt treatment can exceed $1 million dollars per infant annually. The loss of an infant by death to a family is immeasurable.
MCAD testing is the third major expansion of the Newborn Screening Program in the last two years. In 2005, the Newborn Screening Program expanded to include the genetic disorder cystic fibrosis (CF), which causes chronic lung infections and a fatal lung disease that also interferes with digestion. Also included was congenital adrenal hyperplasia (CAH), a genetic disorder caused by the lack of an enzyme that the adrenal gland uses to process hormones.
A simple blood test screens for phenylketonuria (PKU), congenital hypothyroidism, classic galactosemia, and sickle cell disease, in addition to MCAD, CF and CAH. The OSDH Newborn Screening Program tests more than 50,000 newborns for genetic disorders each year and in 2005, these tests identified 54 newborns with a disorder. Comprehensive follow-up services and genetic counseling ensured prompt identification of affected newborns, provided counseling to families about the future risk of having a child with a disorder, and offered long-term care coordination services to improve health outcomes of affected newborns.
For more information about the OSDH Newborn Screening Program, contact the Director of Genetics and State Genetics Coordinator, Pam King at 405/271-6617.
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