title: A primer on newborn screening.
abstract: Metabolic disorders are individually rare, but when considered together as a disease entity are relatively frequent, occurring in 1 in 1000 to 1 in 3000 infants. Some disorders can have devastating and irreversible outcomes if not diagnosed early and treated promptly. Newborn screening is a vital step in identifying infants with inborn metabolic disorders, hemoglobinopathies, infectious processes, and congenital endocrinopathies; the goal is early recognition and treatment. This article summarizes the critical aspects of newborn screening, comparing and contrasting current national screening practices, and identifying key considerations for clinical care, parental education, and support. To prevent morbidity and mortality, healthcare providers must understand the purpose and guidelines for newborn screening. Providers are also responsible for informing parents about the implications of newborn screening to improve awareness and understanding.
authors.affiliation: Newborn Critical Care Services, Primary Children's Medical Center, Salt Lake City, Utah, USA. pckgatre@ifc.com
authors.forename: Kristin Gatrell
authors.initials: KG
authors.lastname: Bryant
authors.forename: Kimberly M
authors.initials: KM
authors.lastname: Horns
authors.forename: Nicola
authors.initials: N
authors.lastname: Longo
authors.forename: Julieanne
authors.initials: J
authors.lastname: Schiefelbein
mesh_terms: D002662:Child Health Services / Q000458:organization & administration* / Q000706:statistics & numerical data; D006301:Health Services Needs and Demand / Q000458:organization & administration; D006302:Health Services Research; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology / Q000517:prevention & control*; D015997:Neonatal Screening / Q000379:methods / Q000592:standards; D010818:Practice Patterns, Physicians' / Q000592:standards; D011785:Quality Assurance, Health Care / Q000458:organization & administration; D018570:Risk Assessment / Q000379:methods; D012307:Risk Factors; D014481:United States / Q000453:epidemiology