At what stage do the USPSTF recommend screening for phenylketonuria?

The recommendation for screening for phenylketonuria (PKU) by the U.S. Preventive Services Task Force (USPSTF) is to conduct screenings in newborns. This is based on the understanding that early identification of PKU, a genetic disorder that leads to cognitive impairment if not managed, is crucial. Newborn screening allows for the timely initiation of dietary interventions that can prevent the severe consequences associated with the condition. Detecting PKU shortly after birth provides the best outcomes, as it enables healthcare providers to guide parents in modifying the infant's diet, thus minimizing the risks of developmental issues and improving the child's quality of life.

Screening is not recommended during pregnancy, in early childhood, or at school age because those stages miss the critical window for effective intervention. By the time a child reaches early childhood or school age, the adverse effects of untreated PKU may already manifest, making it much harder to manage. Therefore, the most effective and recommended practice according to the USPSTF is to screen newborns for PKU right after birth.