The Journal of Pediatrics
Volume 155, Issue 5 , Pages 618-622 , November 2009

A New Cystic Fibrosis Newborn Screening Algorithm: IRT/IRT1↑/DNA

  • Marci K. Sontag, PhD

      Affiliations

    • Department of Epidemiology, Colorado School of Public Health, University of Colorado Denver, Aurora, CO
    • Corresponding Author InformationReprint requests: Marci K. Sontag, PhD, The Children's Hospital, 13123 E 16th Ave, B395, Aurora, Colorado, 80045.
    • ,
  • Dan Wright

      Affiliations

    • Laboratory Services Division, Colorado Department of Public Health and Environment, Denver, CO
    • ,
  • James Beebe, PhD

      Affiliations

    • Laboratory Services Division, Colorado Department of Public Health and Environment, Denver, CO
    • ,
  • Frank J. Accurso, MD

      Affiliations

    • Department of Pediatrics, University of Colorado Denver School of Medicine and The Children's Hospital, Aurora, CO
    • ,
  • Scott D. Sagel, MD

      Affiliations

    • Department of Pediatrics, University of Colorado Denver School of Medicine and The Children's Hospital, Aurora, CO

Received 29 August 2008 ,Revised 30 January 2009 ,Accepted 26 March 2009.

References 

  1. Crossley JR, Elliott RB, Smith PA. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet. 1979;1:472–474
  2. Wilcken B, Brown AR, Urwin R, Brown DA. Cystic fibrosis screening by dried blood spot trypsin assay: results in 75 000 newborn infants. J Pediatr. 1983;102:383–387
  3. Hammond KB, Abman SH, Sokol RJ, Accurso FJ. Efficacy of statewide neonatal screening for cystic fibrosis by assay of trypsinogen concentrations. N Engl J Med. 1991;325:769–774
  4. National Newborn Screening and Genetics Resource Center. Available at: http://genes-r-us.uthscsa.edu/. Accessed Aug 1, 2007.
  5. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA [published erratum appears in Science 1989 Sep 29;245(4925):1437]. Science. 1989;245:1066–1073
  6. Farrell PM, Aronson RA, Hoffman G, Laessig RH. Newborn screening for cystic fibrosis in Wisconsin: first application of population-based molecular genetics testing. Wis Med J. 1994;93:415–421
  7. Ranieri E, Ryall RG, Morris CP, Nelson PV, Carey WF, Pollard AC, et al. Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis. BMJ. 1991;302:1237–1240
  8. Corbetta C, Seia M, Bassotti A, Ambrosioni A, Giunta A, Padoan R. Screening for cystic fibrosis in newborn infants: results of a pilot programme based on a two tier protocol (IRT/DNA/IRT) in the Italian population. J Med Screen. 2002;9:60–63
  9. Pollitt RJ, Dalton A, Evans S, Hughes HN, Curtis D. Neonatal screening for cystic fibrosis in the Trent region (UK): two-stage immunoreactive trypsin screening compared with a three-stage protocol with DNA analysis as an intermediate step. J Med Screen. 1997;4:23–28
  10. Wilcken B, Wiley V, Sherry G, Bayliss U. Neonatal screening for cystic fibrosis: a comparison of two strategies for case detection in 1.2 million babies. J Pediatr. 1995;127:965–970
  11. Gregg RG, Wilfond BS, Farrell PM, Laxova A, Hassemer D, Mischler EH. 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
  12. Sontag MK, Hammond KB, Zielenski J, Wagener JS, Accurso FJ. Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes. J Pediatr. 2005;147:S83–S88
  13. Comeau AM, Parad RB, Dorkin HL, Dovey M, Gerstle R, Haver K, et al. Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections. Pediatrics. 2004;113:1573–1581
  14. Rock MJ, Hoffman G, Laessig RH, Kopish GJ, Litsheim TJ, Farrell PM. Newborn screening for cystic fibrosis in Wisconsin: nine-year experience with routine trypsinogen/DNA testing. J Pediatr. 2005;147:S73–S77
  15. Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, Mennuti M, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004;6:387–391
  16. Scotet V, De Braekeleer M, Audrezet MP, Lode L, Verlingue C, Quere I, et al. Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis. Clin Genet. 2001;59:42–47
  17. Colorado Births and Deaths 2006. Health Statistics Section, Colorado Department of Public Health and Environment; Denver, Colorado, 2007.
  18. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C, Cutting GR, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153:S4–S14

 Supported by the Cystic Fibrosis Foundation SONTAG07AO, NIDDK RO1 DK61886, NHLBI U01 HL081335. The authors declare no real or perceived conflicts of interest.

PII: S0022-3476(09)00326-6

doi: 10.1016/j.jpeds.2009.03.057

The Journal of Pediatrics
Volume 155, Issue 5 , Pages 618-622 , November 2009

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