Evaluation of newborn screening for severe combined immunodeficiency (SCID)
Rebecca Nightingale, Christine Cavanagh, Andrew R. Gennery
Abstract
Important features about a screening programme for newborn infants are that it should accurately, without too many false positives, detect a disease that is serious, where effective management is readily available and early presymptomatic detection and intervention should reduce morbidity and mortality. The screening test must be applicable to the general neonatal population and the whole programme should have an acceptable cost, relative to the potential benefit. A definitive followup test that distinguishes true positives from false positives should be readily available. Following diagnosis, treatment should be instituted in a timely manner. It is essential that the programme is subjected to appropriate monitoring and quality assurance to ensure that the intended outcome is delivered.