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Center for Congenital and Inherited Disorders

Selection of Disorders Screened by the Iowa Neonatal Metabolic Screening Program

Each year the INMSP identifies over 100 newborns with one of the disorders screened for by the program. Each disorder is extremely rare (e.g., 1 in 70,000 live births for galactosemia), but without a screening program the disorder would remain undetected until it became too late for treatment to prevent, reduce, or reverse its effects. Decisions for including a disorder in the newborn metabolic screening program are based on the following criteria:

  1. There is evidence of substantial public health benefit and acceptance by the public and the medical community;
  2. Screening is feasible and cost effective;
  3. Satisfactory test methods and laboratory facilities are available;
  4. Resources exist to provide counseling and follow-up, and to address other consequences of screening;
  5. The disorder is treatable and generally not easily identifiable without screening;
  6. If untreated the disorder is likely to result in significant costs to the individual, the family and society.

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