The Journal of Pediatrics
Volume 147, Issue 3 , Pages 312-315 , September 2005

Cystic Fibrosis Birth Rates in Canada: A Decreasing Trend since the Onset of Genetic Testing

Received 25 February 2005 ,Revised 3 June 2005 ,Accepted 22 June 2005.

References 

  1. Welsh MJ, Ramsey BW, Accurso F, Cutting GR. Cystic fibrosis. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The metabolic and molecular bases of inherited disease. 8th ed.. New York: McGraw-Hill; 2001;p. 5121–5188
  2. Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, et al. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science. 1989;245:1059–1065
  3. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073–1080
  4. Cystic Fibrosis Genetic Analysis Consortium (CFGAC). 2002. www.genet.sickkids.on.ca/cftr/. Accessed in April 2005.
  5. Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, et al. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet. 1992;50:1178–1184
  6. Rozen R, De Braekeleer M, Daigneault J, Ferreira-Rajabi L, Gerdes M, Lamoureux L, et al. Cystic fibrosis mutations in French Canadians: three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis. Am J Med Genet. 1992;42:360–364
  7. Canadian Cystic Fibrosis Foundation. Canadian Patient Data Registry National Report, 2000. Canadian Cystic Fibrosis Foundation; Toronto 2001.
  8. Bobadilla JL, Macek M, Fine JP, Farrell PM. Cystic fibrosis: a worldwide analysis of CFTR mutations–correlation with incidence data and application to screening. Hum Mut. 2002;19:575–606
  9. Cystic Fibrosis Foundation. Patient Registry 2000 Annual Data Report. Bethesda (MD): Cystic Fibrosis Foundation; 2001.
  10. Chong MY, Hamilton DC, Cole DEC. Retrospective estimation of the birth prevalence for delayed onset disorders: application to cystic fibrosis in Nova Scotia. Stat Med. 2000;19:743–751
  11. Farrall M, Law HY, Rodeck CH, Warren R, Stanier P, Super M, et al. First-trimester prenatal diagnosis of cystic fibrosis with linked DNA probes. Lancet. 1986;1:1402–1405
  12. Khoury MJ, McCabe LL, McCabe ER. Population screening in the age of genomic medicine. N Engl J Med. 2003;348:50–58
  13. Kalbfleisch JD, Lawless JF. Inference based on retrospective ascertainment: an analysis of the data on transfusion-related AIDS. J Am Stat Assoc. 1989;84:360–372
  14. Gregg RG, Benjamin SW, 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
  15. Kosorok MR, Wei WH, Farrell PM. The incidence of cystic fibrosis. Stats Med. 1996;15:449–462
  16. FitzSimmons SC. The changing epidemiology of cystic fibrosis. J Pediatr. 1993;122:1–9
  17. Dodge JA, Morison S, Lewis PA, Coles EC, Geddes D, Russell G, et al. Incidence, population, and survival of cystic fibrosis in the UK, 1968-95. Arch Dis Child. 1977;77:493–496
  18. Knowles MR, Durie PR. What is cystic fibrosis?. N Eng J Med. 2002;347:439–442
  19. Green MR, Weaver LT, Heeley AF, Nicholson K, Kuzemko JA, Barton DE, et al. Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history. Arch Dis Child. 1993;68:464–467
  20. Scotet V, Gillet D, Duguépéroux I, Audrézet M-P, Bellis G, Garnier B, et al. Spatial and temporal distribution of cystic fibrosis and of its mutations in Brittany, France: a retrospective study from 1960. Hum Genet. 2002;111:247–254
  21. Scotet V, Audrézet M-P, Roussey M, Rault G, Blayau M, DeBraekeleer M, et al. Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany, France. Hum Genet. 2003;113:280–285
  22. Belanger A, Gilbert S. The fertility of immigrant women and their Canadian-born daughters. In: Report on the demographic situation in Canada. Current demographic analysis. Ottawa: Alain Belanger Ministry of Industry; 2003;p. 127–151
  23. Mei-Zahav M, Durie P, Zielenski J, Solomon M, Tullis E, Tsui L-C, et al. The prevalence and clinical characteristics of cystic fibrosis in South Asian Canadian immigrants. Arch Dis Child. 2005;90:675–679

 Supported by CCFF, CIHR, NSERC, Genome Canada.

PII: S0022-3476(05)00600-1

doi: 10.1016/j.jpeds.2005.06.043

The Journal of Pediatrics
Volume 147, Issue 3 , Pages 312-315 , September 2005

Article Tools

* Image Usage & Resolution