Arch Dis Child Fetal Neonatal Ed 1999;80:F1-F7 ( January )

Clinical outcomes of newborn screening for cystic fibrosis

Donna L Waters,^a Bridget Wilcken,^b Les Irwig,^d Peter Van Asperen,^c Craig Mellis,^c Judy M Simpson,^d John Brown,^c Kevin J Gaskin^a

^a James Fairfax Institute of Paediatric Nutrition Royal Alexandra Hospital for Children, Sydney, PO Box 3515, Parramatta 2124, New South Wales, Australia, ^b Department of Biochemical Genetics, ^c Department of Respiratory Medicine, ^d Department of Public Health, University of Sydney

Correspondence to: Professor K J Gaskin.

Accepted 11 August 1998

AIMTo determine how early diagnosis of cystic fibrosis, using neonatal screening, affects long term clinical outcome.
METHODSFifty seven children with cystic fibrosis born before neonatal screening was introduced (1978 to mid 1981) and a further 60 children born during the first three years of the programme (mid 1981 to 1984), were followed up to the age of 10. The cohorts were compared on measures of clinical outcome, including height, weight, lung function tests, chest x-ray picture and Shwachman score.
RESULTSAge and sex adjusted standard deviation scores (SDS) for height and weight were consistently higher in children screened for cystic fibrosis than in those born before screening. At 10 years of age, average differences in SDS between groups were 0.4 (95% CI 0.1, 0.8) for weight and 0.3 (95% CI 0.1, 0.7) for height. This translates to an average difference of about 2.7 cm in height and 1.7 kg in weight. Mean FEV₁ and FVC (as percentage predicted) were significantly higher in the screened cohort at 5 and 10 years of age, with an average difference of 9.4% FEV₁ (95% CI 0.8, 17.9) and 8.4% FVC (95% CI 1.8, 15.0) at 10 years. Chest x-ray scores were not different between the groups at any age, but by 10 years screened patients scored an average 5.3 (95% CI 1.2, 9.4) points higher on the Shwachman score.
CONCLUSIONAlthough not a randomised trial, this long term observational study indicates that early treatment made possible by neonatal screening may be important in determining subsequent clinical outcomes for children with cystic fibrosis. For countries contemplating the introduction of neonatal screening for cystic fibrosis, its introduction to some areas in a cluster randomised design will permit validation of studies performed to date.

Keywords: cystic fibrosis; neonatal screening; early diagnosis; clinical outcomes

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© 1999 by Archives of Disease in Childhood
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