Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: a UK CF registry-based study

Schlüter, Daniela K; Southern, Kevin W; Dryden, Carol; Diggle, Peter J.; Taylor-Robinson, David

doi:10.1136/thoraxjnl-2019-213179

Cited by 31 publications

(30 citation statements)

References 24 publications

(27 reference statements)

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“…Cystic fibrosis patients diagnosed with NBS have a lower burden of treatment and fewer hospitalizations for intravenous antibiotic therapy due to exacerbation of lung disease [ 12 , 13 ]. Children diagnosed with CF by NBS are expected to have better lung function and lower incidence of Pseudomonas aeruginosa infection, in particular delayed onset of chronic Pseudomonas aeruginosa infection [ 12 , 14 , 15 ]. Newborn screening for CF leads to improved long-term health outcomes and survival for the CF population [ 12 , 16 ].…”

Section: Discussionmentioning

confidence: 99%

Two years of newborn screening for cystic fibrosis in North Macedonia: First experience

Fustik

Anastasovska

Plaseska‐Karanfilska

et al. 2021

Balkan Journal of Medical Genetics

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There is a widely accepted consensus on the benefits of newborn screening (NBS) for cystic fibrosis (CF) in terms of reduced disease severity, improved quality of life, lower treatment burden, and reduced costs. More and more countries in the world are introducing NBS for CF as a national preventive health program. Newborn screening for CF was introduced in the Republic of North Macedonia (RNM) in April, 2019, after a pilot study of 6 months in 2018. A two-step immunoreactive trysinogen (IRT-IRT) algorithm is performed, and then a sweat test for confirmation/exclusion of the CF diagnosis when the IRT values were both over the cutoff (70.0 and 45.0 ng/mL, respectively). In cases with confirmed diagnosis of CF (a sweat chloride concentration >60.0 mmol/L) or with intermediate sweat test results (a sweat chloride concentration of between 30.0 and 59.0 mmol/L), CF transmembrane conductance regulator (CFTR) mutation analysis is performed. By the end of 2020, over a period of 27 months, including the pilot study period, a total number of 43,139 newborns were screened for CF. Seventeen (0.039%) newborns were diagnosed with CF. In all newly discovered CF cases by screening, the diagnosis was confirmed by determination of the CFTR mutations. The most common CFTR mutation, F508del, was found with an overall incidence of 70.6%. Other more frequent mutations were G542X (11.8%) and N1303K (5.9%). Four mutations were found in one CFTR allele each: G1349D, G126D, 457TAT>G and CFTRdupexon22, with the last one being newly discovered with unknown consequences. An incredibly large difference was found in the incidence of the disease between the Macedonian and Albanian neonatal population, with almost four time higher prevalence among Albanians (1:4530 vs. 1:1284).

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Section: Discussionmentioning

confidence: 99%

Two years of newborn screening for cystic fibrosis in North Macedonia: First experience

Fustik

Anastasovska

Plaseska‐Karanfilska

et al. 2021

Balkan Journal of Medical Genetics

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“…Early recognition of CF by NBS programs prevents delay in diagnosis and leads to proper interventions for patients 19,20 . Although there is no standard definition for the DD of CF, “early diagnosis” was defined by Sims et al as the patients who were diagnosed before 2 months of age.…”

Section: Discussionmentioning

confidence: 99%

“…This may be related to inadequate health system organization and an insufficient number of medical staff for NBS at the beginning of the NBS program. Delay in taking a blood sample delays NBS results and further delays in applying to the ST center leading to DD of CF 19 …”

Section: Discussionmentioning

confidence: 99%

Geographical barriers to timely diagnosis of cystic fibrosis and anxiety level of parents during newborn screening in Turkey

Gökdemir

Eyüboğlu

Emiralioğlu

et al. 2021

Pediatric Pulmonology

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Background Despite the availability of cystic fibrosis (CF) screening countrywide, diagnostic delay is still a crucial issue. The objectives of this study were to explore the stages of the NBS process, determine the risk factors associated with diagnostic delay and evaluate parent anxiety and experience throughout the process. Methods This is a multicenter cross‐sectional study. A questionnaire was completed by parents of newborns diagnosed with CF via NBS in 17 centers. Socio‐demographic characteristics, parent knowledge and experiences related to NBS, sweat test availability in the region of residence, and time to the definitive CF diagnosis were assessed through this questionnaire. Parents' anxiety levels were evaluated through the State‐Trait Anxiety Inventory scales 1 and 2. Delayed diagnosis (DD) was defined as a definite CF diagnosis beyond the 8th week of life. Predictors of delayed CF diagnosis were evaluated by univariate and multivariate analysis. Results A total of 220 CF patients diagnosed via NBS were enrolled; 82 (37.3%) babies had DD. Multivariable analysis indicated that residence in the Southeast Anatolia region of Turkey (OR = 10.79, 95% CI = 2.37–49.2) was associated with a higher incidence of DD compared with other regions in Turkey. Of the total, 216 (98.1%) of the caregivers regarded the NBS program as useful and 180 (82%) reported high anxiety levels. Conclusion The organization of newborn screening should take into account regional and socio‐cultural characteristics to improve the early diagnosis of CF and also reduce the anxiety level of parents.

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“…In infants who were diagnosed with CF via NBS, Schluter et al 7 evaluated improvements in clinical outcomes and the impact of NBS on reducing social inequities. Using the United Kingdom CF registry, from 2000 to 2015, outcomes prior to and after NBS implementation in 2007 showed improvements in weight, lung function and chronic Pseudomonas aeruginosa in those diagnosed by NBS.…”

Section: Diagnosismentioning

confidence: 99%

Year in Review 2020: Multisystemic Impact of Cystic Fibrosis

Sharma

Sathe

Savant

2021

Preprint

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Clinical care in cystic fibrosis (CF) has continued to advance over the last several years, particularly with the widespread eligibility and use of highly effective modulator therapy. Awareness of the multisystem concerns that face persons with CF (PwCF) has also continued to be recognized as an important aspect of the burden of the disease. This review will cover a broad array of topics, from diagnosis to multisystem effects related to mental health, endocrine, palliative care, reproductive health, otolaryngology, and cardiac issues. Additionally, an understanding of worldwide care delivery will be reviewed, demonstrating variation in outcomes based on resources and populations served, ranging from the advances in care in the United States (US) to the challenges of disease recognition and diagnosis in low-and-middle-income countries (LMIC). This review is the third in a three-part CF Year in Review 2020 series, focusing on the multi-system effects of CF. Part one focused on the literature related to CFTR (cystic fibrosis transmembrane conductance regulator protein) modulators, while part two focused on pulmonary outcomes, radiographic and physiologic assessments, as well as infection and inflammation. Part three has been split into two individual parts, Part 3A presented here, and Part 3B related to CF specific nutrition and gastrointestinal publications will also be published this year. This review focuses on articles from Pediatric Pulmonology but also includes articles published in 2020 from other journals that are of particular interest to clinicians.

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Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: a UK CF registry-based study

Cited by 31 publications

References 24 publications

Two years of newborn screening for cystic fibrosis in North Macedonia: First experience

Two years of newborn screening for cystic fibrosis in North Macedonia: First experience

Geographical barriers to timely diagnosis of cystic fibrosis and anxiety level of parents during newborn screening in Turkey

Year in Review 2020: Multisystemic Impact of Cystic Fibrosis

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