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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.

• Chapter 28 (Table of contents): Screening and Follow-up for Diseases of the Newborn
• § 27.30. Reporting cases of certain diseases in the newborn child
• § 27.32a. Reporting AIDS, HIV, CD4 T-lymphocyte counts and perinatal exposure of newborns to HIV