Newborn screening: the miracle and the challenge

Modern newborn screening programs are coordinated multi-disorder systems for prevention of infant death and disability, which include statewide infant screening, rapid retrieval, early intervention, and long-term follow-up. Screening programs are dynamic, with new tests being evaluated and added. Because nurses are actively involved in all phases of newborn screening, they must be knowledgeable about each disorder and changing screening requirements. This article reviews basic defects, genetics, incidence, symptoms, treatment, and specific newborn screening requirements for the eight disorders most widely incorporated into statewide newborn screening programs, and discusses practical nursing interventions.