Showing papers on "False positive paradox published in 2024"

Newborn Screening

Abstract: Newborn screening (NBS) provides an opportunity for early identification, and thereby early treatment, of newborns with disorders in which the clinical complications develop postnatally and may go unrecognized prior to irreversible clinical damage. Since its inception nearly six decades ago, with screening for a single disorder, NBS has expanded substantially to more than 60 disorders in the current screening panels. NBS is a “screen,” and individuals should not be labeled as having a disorder before diagnostic testing confirms the condition. However, once a disorder has been confirmed, treatment should be initiated without delay to prevent its clinical presentation and complications. Note that false positives are inevitable and that false negatives are possible. The clinical spectrum of disorders identified through NBS is often wider than expected, and the disorder detected is not always the one that was sought. Numerous methods are used in NBS, ranging from simple to complex, such as isoelectric focusing and enzymatic assays to tandem mass spectrometry and high-throughput genomic sequencing. Many factors will continue to transform NBS, including rapidly advancing technology, and new and increasingly available therapeutic approaches to previously untreatable disorders. This chapter provides a brief history and covers the concepts, criteria, processes, and limitations of newborn screening. The methodologies employed and screened specific issues related to disorders in the current panels are also included.