Published online February 1, 2007
PEDIATRICS Vol. 119 No. 2 February 2007, pp. e495-e518 (doi:10.1542/peds.2006-1993)

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SPECIAL ARTICLE

Guidelines for Implementation of Cystic Fibrosis Newborn Screening Programs: Cystic Fibrosis Foundation Workshop Report

Anne Marie Comeau, PhD^a, Frank J. Accurso, MD^b, Terry B. White, PhD^c, Preston W. Campbell, III, MD^c, Gary Hoffman, BS^d, Richard B. Parad, MD, MPH^a,e,f, Benjamin S. Wilfond, MD^g,h, Margaret Rosenfeld, MD, MPHⁱ, Marci K. Sontag, PhD^j, John Massie, MBBS, FRACP, PhD^k, Philip M. Farrell, MD, PhD^l and Brian P. O'Sullivan, MD^m

^a New England Newborn Screening Program and Department of Pediatrics, University of Massachusetts Medical School, Worcester, Massachusetts
^b Department of Pediatrics, Mike McMorris Cystic Fibrosis Research and Treatment Center, University of Colorado Health Sciences Center and Children's Hospital, Denver, Colorado
^c Cystic Fibrosis Foundation, Bethesda, Maryland
^d State Laboratory of Hygiene
^l Department of Pediatrics, University of Wisconsin, Madison, Wisconsin
^e Department of Newborn Medicine, Brigham and Women's Hospital, Boston, Massachusetts
^f Department of Newborn Medicine, Children's Hospital, Boston, Massachusetts
^g Social and Behavioral Research Branch, National Human Genome Research Institute
^h Department of Clinical Bioethics, Warren G. Magnuson Clinical Center, National Institutes of Health, Bethesda, Maryland
ⁱ Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington
^j Department of Preventive Medicine, University of Colorado Health Sciences Center, Denver, Colorado
^k Department of Respiratory Medicine, Royal Children's Hospital, Melbourne, Australia
^m Department of Pediatrics, University of Massachusetts Medical Center, Worcester, Massachusetts

Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis Foundation to facilitate implementation of widespread high quality cystic fibrosis newborn screening, outlines the steps necessary for success based on the experience of existing programs. Planning should begin with a workgroup composed of those who will be responsible for the success of the local program, typically including the state newborn screening program director and cystic fibrosis care center directors. The workgroup must develop a screening algorithm based on program resources and goals including mechanisms available for sample collection, regional demographics, the spectrum of cystic fibrosis disease to be detected, and acceptable failure rates of the screen. The workgroup must also ensure that all necessary guidelines and resources for screening, diagnosis, and care be in place prior to cystic fibrosis newborn screening implementation. These include educational materials for parents and primary care providers; systems for screening and for providing diagnostic testing and counseling for screen-positive infants and their families; and protocols for care of this unique population. This summary explores the benefits and risks of various screening algorithms, including complex situations that can occur involving unclear diagnostic results, and provides guidelines and sample materials for state newborn screening programs to develop and implement high quality screening for cystic fibrosis.

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Key Words: newborn screening • cystic fibrosis • genotype • sweat test • guidelines

Abbreviations: CF—cystic fibrosis • NBS—newborn screening • PCP—primary care provider • MI—meconium ileus • IRT—immunoreactive trypsinogen • CFTR—Cystic Fibrosis Transmembrane Conductance Regulator • CLSI—Clinical and Laboratory Standards Institute • QNS—quantity not sufficient • Cl^–—chloride

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Accepted Oct 10, 2006.

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