Conventional chest physiotherapy compared to other airway clearance techniques for cystic fibrosis. Cochrane Database of Systematic Reviews, (1), [ARTN CD002011.pub2].

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A unified approach to interpreting spirometric lung function measurements would help facilitate more appropriate comparison both within and between centres and countries. Interpretation of longitudinal measurements using a continuous reference equation across all-ages, like the GLI, may further improve our understanding of CF lung disease.

Background: Information regarding recruitment of infants to research studies following the diagnosis of cystic fibrosis (CF) via newborn screening (NBS) is not currently available. This study aimed to assess parental attitudes and the feasibility of recruiting and retaining both NBS infants with CF and healthy control infants to a longitudinal, observational study. Methods: All infants underwent pulmonary function tests (PFTs) at~3 and~12 months of age. Infants with CF had additional combined chest high resolution computed tomography (HRCT), bronchoscopy and broncho-alveolar lavage (BAL) at~12 months of age. Parental attitude questionnaires (PAQs) were administered to all parents following the~3 month PFTs and to parents of infants with CF after completion of all tests at~12 months. Results: 86% (92/107) of families whose infant had CF consented to participate, of whom 92% had PFTs at~3 months of age with 99% of these having PFTs at~12 months of age. Recruitment of healthy controls was feasible but more challenging; 29% of those contacted agreed to participate; 73% of these had PFTs at~3 months of age; of whom 83% had repeated PFTs at~12 months of age. Completed PAQs were received from 71% of parents, (both of CF and healthy infants) at~3 months and from 58% parents of infants with CF at~12 months. Responses from the PAQs were generally positive, 95% of parents indicated they would recommend participation in such studies to other families. Discrepancies between responses at 3 and 12 months suggested that parental understanding of what the research entailed developed during the course of the study. Conclusions: The high recruitment and retention rates for newly diagnosed CF NBS infants to this observational study are encouraging. These findings will help inform future study design both in the field of CF and other conditions diagnosed by NBS.

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Newborn babies positively screened for cystic fibrosis (CF) (high serum immunoreactive trypsin (IRT) with DNA analysis) are referred for a diagnostic sweat test, which may be normal (sweat chloride <30 mmol/L). Unless two gene mutations are identified during Newborn screening (NBS), the babies are discharged from follow-up. We wished to check that none had subsequently developed symptoms suggestive of CF. We retrospectively reviewed patient notes and contacted general practitioners of all babies with a negative sweat test, conducted in one of the four paediatric specialist CF centres in London, over the first 6 years of screening in South East England.Of 511 babies referred, 95 (19%) had a normal sweat test. Five (5%) had CF diagnosed genetically, two of them on extended genome sequencing after clinical suspicion. Eleven (12%) were designated as CF screen positive inconclusive diagnosis (CFSPID); one of the five CF children was originally designated as CFSPID. Seventy-nine (83%) were assumed to be false-positive cases and discharged; follow-up data were available for 51/79 (65%); 32/51 (63%) had no health issues, 19/51 (37%) had other significant non-CF pathology.These results are reassuring in that within the limitations of those lost to follow-up, CF symptoms have not emerged in the discharged children. The high non-CF morbidity in these children may relate to known causes of high IRT at birth. Clinicians need to be aware that a child can have CF despite a normal sweat test following NBS, and if symptoms suggest the diagnosis, further testing, including extended genome sequencing, is required.

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