Original ResearchNeonatal screening for cystic fibrosis is beneficial even in the context of modern treatment
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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2016, Clinics in Chest MedicineCitation Excerpt :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
Cystic fibrosis in young children: A review of disease manifestation, progression, and response to early treatment
2016, Journal of Cystic FibrosisNeonatal Screening and Nutrition/Growth in Cystic Fibrosis: A Review
2015, Diet and Exercise in Cystic Fibrosis
Supported by the UK Cystic Fibrosis Trust and the National Services Division of the National Health Service (Scotland).