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Improved survival in cystic fibrosis patients diagnosed by newborn screening compared to a historical cohort from the same centre
  1. F Nicole Dijk1,2,
  2. Karen McKay1,4,
  3. Federica Barzi3,
  4. Kevin J Gaskin4,
  5. Dominic A Fitzgerald1,4
  1. 1Department of Respiratory Medicine, The Children's Hospital at Westmead, Sydney, Australia
  2. 2Medical School, University of Groningen, Groningen, The Netherlands
  3. 3Kids Research Centre, The Children's Hospital at Westmead, Sydney, Australia
  4. 4Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Sydney, Australia
  1. Correspondence to Professor Dominic A Fitzgerald, Department of Respiratory Medicine, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia; dominif2{at}chw.edu.au

Abstract

Background Newborn screening (NBS) for cystic fibrosis (CF) is associated with improved early nutritional outcomes and improved spirometry in children. The aim of this study was to determine whether early diagnosis and treatment of CF with NBS in New South Wales in 1981 led to better clinical outcomes and survival into early adulthood.

Methods Retrospective observational study comprising two original cohorts born in the 3 years before (‘non-screened cohort’, n=57) and after (‘screened’; n=60) the introduction of NBS. Patient records were assessed at transfer from paediatric to adult care by age 19 years and survival was documented to age 25 years.

Results Non-screened patients (n=38) when compared with screened patients (n=41) had a higher rate and lower age of Pseudomonas aeruginosa acquisition at age 18 years (p≤0.01). Height, weight and body mass index (BMI) z scores (all p<0.01) and forced expiratory volume in 1 s (FEV1)% were better in the screened group (n=41) (difference: 16.7±6.4%; p=0.01) compared to non-screened (n=38) subjects on transfer to adult care. Each 1% increase in FEV1% was associated with a 3% (95% CI 1% to 5%; p=0.001) decrease in risk of death and each 1.0 kg/m2 increase in BMI contributed to a 44% (95% CI 31% to 55%; p<0.001) decrease in risk of death. This accumulated in a significant survival difference at age 25 years (25 vs 13 deaths or lung transplants; p=0.01).

Conclusion NBS for CF leads to better lung function, nutritional status and improved survival in screened patients in early adulthood.

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Footnotes

  • Correction notice This article has been corrected since it was published Online First. The authors have requested a point of clarification regarding the timing of the diagnosis of cystic fibrosis in the non-screened cohort. Thus in the Abstract, in the Methods, it has been reworded as follows: “Retrospective observational study comprising two original cohorts born in the three years before (“non-screened cohort”; n=57) and after (“screened”; n=60) the introduction of NBS”.

    Also, the following has been added as the second sentence in paragraph 2 of the Results section: “The age of diagnosis for the non-screened group, born between July 1978 and June 1981, was as follows: 53% diagnosed by 6 months, 70% by 12 months, 91% by 2 years. Eighteen of the 57 patients (32%) in the non-screened group were diagnosed and started on treatment after the commencement of newborn screening on 1 July 1 1981. There were no significant differences between the groups other than the age of diagnosis.”

    Finally, author Karen McKay has had her Sydney University affiliation noted.

  • Competing interests None.

  • Ethics approval The Ethics Committee of the Children's Hospital at Westmead and the Advisory Board for the Cystic Fibrosis in Australia database approved this study (QIE-2010-08-19).

  • Provenance and peer review Not commissioned; externally peer reviewed.

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