Grosse, Scott D.; Boyle, Coleen A.; Botkin, Jeffrey R.; Comeau, Anne Marie; Kharrazi, Martin; Rosenfeld, Margaret; and Wilfond, Benjamin S., "Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs" (2004). Genetics. 8.
Department of Pediatrics; New England Newborn Screening Program
Medical Subject Headings
Algorithms; Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Health Education; Humans; Infant, Newborn; Infection Control; Neonatal Screening; Prenatal Diagnosis; Risk; Trypsinogen; United States
Genetics and Genomics | Medical Genetics | Pediatrics
In November 2003, CDC and the Cystic Fibrosis Foundation cosponsored a workshop to review the benefits and risks associated with newborn screening for cystic fibrosis (CF). This report describes new research findings and outlines the recommendations of the workshop. The peer-reviewed evidence presented at the workshop supports the clinical utility of newborn screening for CF. Demonstrated long-term benefits from early nutritional treatment as a result of newborn screening for CF include improved growth and, in one study, cognitive development. Other benefits might include reduced hospitalizations and improved survival. Mixed evidence has been reported for pulmonary outcomes. Newborn screening in the United States is associated with diagnosis of CF a median of 1 year earlier than symptomatic detection, which might reduce the expense and anxiety associated with workup for failure to thrive or other symptoms. Certain psychosocial risks for carrier children and their families (e.g., anxiety and misunderstanding) are associated with newborn screening. Exposure of young children to infectious agents through person-to-person transmission in clinical settings, although not an inherent risk of newborn screening, is a potential cause of harm from early detection. Involving specialists in CF care and infection control, genetic counseling, and communication can minimize these potential harms. Although screening decisions depend on a state's individual resources and priorities, on the basis of evidence of moderate benefits and low risk of harm, CDC believes that newborn screening for CF is justified. States should consider the magnitude of benefits and costs and the need to minimize risks through careful planning and implementation, including ongoing collection and evaluation of outcome data.
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Citation: MMWR Recomm Rep. 2004 Oct 15;53(RR-13):1-36. Link to article on publisher's website