Screening for Diseases of the Newborn

The following diseases, if present in newborns, must be reported to the Pennsylvania Department of Health's Bureau of Family Health, Division of Newborn Disease Prevention and Identification:

  1. Congenital adrenal hyperplasia (CAH)
  2. Galactosemia
  3. Hemoglobin diseases
  4. Maple syrup urine disease (MSUD)
  5. Phenylketonuria (PKU)
  6. Primary congenital hypothyroidism

Read specific regulations printed in the Pennsylvania Code.

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Last Updated: 10/30/2007
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