Source: Annual Congress 2009 - Cystic fibrosis: advances in clinical research

Abstract

Introduction
Newborn screening(NBS) began in Eastern England in 1980. It is unclear whether patients with false negative(FN) results on NBS have a difference in growth during the first year after diagnosis.
Aims
The aim of our study was to test the hypothesis that there is no difference in height, weight and BMI in patients with a FN test on screening when compared to patients with a true positive(TP) result, during the first year after diagnosis.
Methods
Approximately 690,000 NBS tests were reviewed in a retrospective, longitudinal study of 28 years of NBS (Jan 1980 to March 2008 inclusive). We defined a FN as a patient with a negative NBS result, subsequently diagnosed clinically with CF before 16 years of age. Patients who were pancreatic sufficient(PS) or had meconium ileus(MI) were excluded. Height, weight and BMI of FN patients at diagnosis, 3, 6 and 12 months after diagnosis were reviewed. Patients were compared with age-sex-matched controls (TPs) and statistical analysis of data performed (paired t-tests).
Results
There were 266 TP (0.039%) and 25 FN (0.004%) out of a total of 690,003 tests. 1 FN patient died within 6 weeks of birth, 9 had MI and 4 were PS. In the 11 remaining FN patients, no significant difference was found in height or weight when compared to their age/sex-matched controls at any time . However, paired t-test analysis showed that the FN cohort had a statistically significantly higher BMI at 1 year after diagnosis (p<0.0171). Diagnosis was made by an average of 8.3 months (median 3.7, range 0.3 to 36.4).
Conclusions
There is insufficient evidence to suggest a difference in growth between FN and TP patients at one year of follow-up. However, the majority of the FN babies were detected at an early age.

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Citations should be made in the following way:
S. A. McAuley, J. Calvin, F. MacLean, R. Iles (Cambridge, United Kingdom). 28 years of newborn screening in the U.K.: false negatives. Eur Respir J 2009; 34: Suppl. 53, 1264

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