PopulationAll newborn infants
RecommendationScreen for Phenykeltonuria (PKU).
Grade: A
Screening TestsScreening for PKU is mandated in all 50 states. Methods of screening vary.
Three main methods are used to screen for PKU in the United States:
  1. Guthrie Bacterial Inhibition Assay (BIA)
  2. Automated fluorometric assay
  3. Tandem mass spectrometry
Timing of ScreeningInfants who are tested within the first 24 hours after birth should receive a repeat screening test by 2 weeks of age.
Optimal timing of screening for premature infants and infants with illnesses is at or near 7 days of age, but in all cases before discharge from the newborn nursery.
TreatmentIt is essential that phenylalanine restrictions be instituted shortly after birth to prevent the neurodevelopmental effects of PKU.
Other Relevant USPSTF RecommendationsAdditional USPSTF recommendations regarding screening tests for newborns can be accessed at: http://www​.uspreventiveservicestaskforce​.org/recommendations.htm#pediatric

From: Recommendations for Children and Adolescents

Cover of The Guide to Clinical Preventive Services 2012
The Guide to Clinical Preventive Services 2012: Recommendations of the U.S. Preventive Services Task Force.

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