Original Research
Neonatal screening for cystic fibrosis is beneficial even in the context of modern treatment

https://doi.org/10.1016/j.jpeds.2005.08.002Get rights and content

Objectives

To determine whether early identification of babies with cystic fibrosis (CF) improves outcome in the current environment of new improved treatments, considering the criticism that there may be only marginal benefit gained by CF newborn screening (NBS).

Study design

We tested whether CF NBS in the setting of modern CF center care still afforded benefit using the UK CF Database (UKCFD; www.cystic-fibrosis.org.uk) to compare clinical outcomes in infants who underwent NBS and control subjects who were clinically diagnosed (CD). With Mann-Whitney rank tests, 184 patients who underwent NBS aged 1 to 9 years in 2002 (excluding meconium ileus) were compared with matched patients who were CD in 3-year age groups (950 control subjects).

Results

Patients as old as 6 years who underwent NBS had significantly greater median height z-scores, less severe Northern chest radiography scores, better Shwachman-Kulczycki scores, and lower rates of chronic Pseudomonas aeruginosa infection. No difference was found for weight z-score or % predicted forced expiratory value in 1 second or forced volume capacity. Nutritional benefit was demonstrated in patients who underwent NBS and were homozygous for the ΔF508 mutation.

Conclusions

NBS segregates with better outcomes in patients as old as 6 years compared with age- and gene-matched control subjects who are CD. This cross-sectional study shows that infants who undergo screening derive nutritional benefit in improved median height and reduced morbidity.

Section snippets

Methods

UKCFD data17, 18 from 41 CF centers and 12 smaller CF clinics in 2001 to 2002 were verified (data entry and range checking) and error-corrected as described recently (www.cystic-fibrosis.org.uk).17 All procedures were compliant with multicenter research ethics protocols and UK legislation on patient confidentiality. Patients with an annual review in 2002 were eligible for inclusion. This generated a “clinical study population” comprising 73% of the “registered UK CF population” of 7294

Results

Our study population of 184 patients who underwent NBS and 950 patients who were CD was aged between 1 and 9 years in 2002; 98 and 531 patients, respectively, were homozygous for ΔF508. The mean/median (range) age at diagnosis for the NBS and CD all genotype populations were 1.0/1.0 (0-2) months and 13.2/6.0 (0-116) months, respectively. Comparable results were found for the parent population of 1909 1- to 9-year-old patients within the database from which the study population was derived

Discussion

Our data support the notion that diagnosis by means of NBS in combination with modern therapy still affords patients significant benefits in improved growth, better chest radiography appearance, and reduced morbidity for PA infection. The only prospective, randomized study examining the merits of an early diagnosis with NBS also suggests significant long-term nutritional benefit in growth potential9, 10 that was of comparable magnitude to our findings on the basis of a cross-sectional approach.

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      In the United States, it is part of the standard newborn screen for other congenital genetic abnormalities, with some variance in the nature of testing that is state specific. The benefits of NBS and early CF diagnosis are clear, including improved lung function and growth in childhood, decreased rates of hospitalization, earlier family access to genetic counseling, and improved cognitive performance.35–40 The reasons for these benefits produced by neonatal diagnosis compared with diagnosing CF secondary to disease manifestations likely include improved growth and nutrition in the neonatal and infant periods, avoidance of fat-soluble vitamin deficiencies, and the initiation of pulmonary therapies that prevent early lung damage.40,41

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    Supported by the UK Cystic Fibrosis Trust and the National Services Division of the National Health Service (Scotland).

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