Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD).
Advances in technology provide new challenges to public health to implement screening programs that are effective, cost-efficient, and available to all infants regardless of ability to pay. The Newborn Metabolic Disorder Screening Program (NMDSP) of the Oklahoma State Department of Health is evaluating the expansion of newborn screening for the disorders of cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD) to the current screening battery of disorders (phenylketonuria, congenital hypothyroidism, galactosemia, and sickle cell disease). The challenge is to offer these new screening tests in a cost-efficient manner that ensures all newborns have access to screening and that an infrastructure exists to diagnose and provide the specialized comprehensive care affected infants will require to reduce the morbidity, mortality, and disability associated with these disorders. Essential components of an effective newborn screening system include the smooth integration of sample collection, laboratory testing, follow-up, diagnosis, timely treatment, and tracking components. The NMDSP has recommended that screening should be expanded, but issues of cost and the establishment of a sustainable infrastructure of comprehensive medical services must be addressed.
Rhoades
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Oklahoma State Department of Health, 1000 NE 10th Street, Oklahoma City, OK 73117, USA.
King
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D042964:Acyl-CoA Dehydrogenase; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis*; D003550:Cystic Fibrosis / Q000175:diagnosis*; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D008403:Mass Screening; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009825:Oklahoma; D011634:Public Health
D044943:Fatty Acid Desaturases; D042964:Acyl-CoA Dehydrogenase