Letter to the Editor

Newborn Screening for Cystic Fibrosis

Authors: Don Hayes, Jr, MD

Abstract

To the Editor:Newborn screening is a well-established approach for identifying genetic diseases with a 40-year history of improving public health.1 The debate about justification for screening newborns for cystic fibrosis (CF) continues; however, the Centers for Disease Control and Prevention (CDC) recommends that individual states consider planning and implementing newborn screening for CF with consideration for the magnitude of benefits, cost, and the need to minimize risks.2 Clinical benefits for CF newborn screening are early nutritional intervention that improves growth and cognitive development with other benefits ranging from reduced hospitalizations to improved survival.2 There is unclear evidence that pulmonary outcomes are improved by newborn screening with potential harm being psychosocial risks for carrier children and exposure of young children to infectious agents through patient interactions in clinical settings.2 Presently, there is no uniformity in the eight states that have mandatory CF newborn screening programs, which includes three southern states, Mississippi, Oklahoma, and South Carolina.

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References

1. McCabe LL, Therell BL Jr, McCabe ER. Newborn screening: rationale for a comprehensive, fully integrated public health system. Mol Genet Metab 2002;77:267–273.
 
2. Grosse SD, Boyle CA, Botkin JR, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep2004;53:1–36.
 
3. Lee DS, Rosenberg MA, Peterson A, et al. Analysis of the costs of diagnosing cystic fibrosis with a newborn screening program. J Pediatr 2003;142:617–623.
 
4. Gregg RG, Wilfond BS, Farrell PM, et al. Application of DNA analysis in a population screening program for neonatal diagnosis of cystic fibrosis (CF): comparison of screening protocols. Am J Hum Genet 1993;52:616–626.