Neonatal screening for cystic fibrosis is beneficial even in the context of modern treatment.
OBJECTIVE
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).


METHODS
We tested whether CF NBS in the setting of modern CF center care still afforded benefit using the UK CF Database (UKCFD; ) 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 DeltaF508 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.
Sims
Erika J
EJ
United Kingdom Cystic Fibrosis Database, Division of Maternal and Child Health Sciences, Ninewells Hospital and Medical School, University of Dundee, Dundee, Scotland.
McCormick
Jonathan
J
Mehta
Gita
G
Mehta
Anil
A
D000367:Age Factors; D001827:Body Height; D002648:Child; D015362:Child Nutrition Disorders / Q000209:etiology; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis / Q000628:therapy; D042241:Early Diagnosis; D005541:Forced Expiratory Volume; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000458:organization & administration*; D009752:Nutritional Status; D017063:Outcome Assessment, Health Care; D011552:Pseudomonas Infections / Q000209:etiology; D012042:Registries; D012141:Respiratory Tract Infections / Q000209:etiology; D012189:Retrospective Studies; D012720:Severity of Illness Index; D006113:United Kingdom; D014797:Vital Capacity