The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe

Barben, Jürg; Castellani, Carlo; Dankert-Roelse, J.E.; Gartner, Sílvia; Kashirskaya, N.; Linnane, Barry; Mayell, Sarah; Munck, À.; Sands, Dorota; Sommerburg, Olaf; Pybus, Simon; Winters, V.; Southern, Kevin W

doi:10.1016/j.jcf.2016.12.012

Cited by 99 publications

(139 citation statements)

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“…In fact, three national programmes in Europe do include extended gene sequencing (Netherlands, Norway and Poland) 14. While use of extended genotyping will improve specificity by picking up some cases with two disease-causing mutations, it will also lead to the diagnosis of more carriers and designation of more children as CFSPID with the inevitable dilemmas over further management 13.…”

Section: Discussionmentioning

confidence: 99%

“…The European Cystic Fibrosis Society has published consensus recommendations for CFSPID,3 but, nevertheless, there remain many unanswered questions, not least length of follow-up of an essentially healthy child. There are a variety of screening protocols and algorithms across the world, and a European survey published in 2016 found 16 different approaches in the 16 countries with national programmes 14. Perhaps this implies that the perfect programme does not exist, and while changes may be necessary (eg, to IRT cut-offs or number of gene mutations tested), they must first be evaluated carefully and be specific to the population being screened 14…”

Section: Discussionmentioning

confidence: 99%

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Cystic fibrosis newborn screening: outcome of infants with normal sweat tests

et al. 2017

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Cystic fibrosis newborn screening: outcome of infants with normal sweat tests

et al. 2017

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“…Some cases are missed by CF newborn screening. Algorithms should strive for a sensitivity above 95% and a positive predictive value above 30% . The major side effect of CF newborn screening is detecting infants in whom the diagnosis CF cannot be made or excluded with certainty.…”

Section: From Diagnosis Via Symptoms To Cf Newborn Screeningmentioning

confidence: 99%

Cystic fibrosis in the year 2020: A disease with a new face

2020

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“…Implementation of newborn screening (NBS) has increased widely, 1 because of proven nutritional benefits, improved pulmonary outcome and survival. [2][3][4][5][6][7] Identification of elevated immunoreactive trypsinogen (IRT) is the first step defining a positive screen and, in most algorithms, precedes cystic fibrosis transmembrane conductance regulator (CFTR) mutation analysis and diagnostic sweat testing.…”

Section: Introductionmentioning

confidence: 99%

Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening

Munck

Bourmaud

Bellon

et al. 2020

Pediatric Pulmonology

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Objective To characterize the phenotypic expression of children with conductance regulator‐related metabolic syndrome (CRMS)/cystic fibrosis screen positive inconclusive diagnosis (CFSPID) designation after positive newborn screening, reassign labeling if applicable and better define these children's prognosis. Methods A multicenter cohort with CRMS/CFSPID designation was matched with cystic fibrosis (CF)‐diagnosed cohort. Cohorts were prospectively compared on baseline characteristics, cumulative data and when they reached 6 to 7 years at endpoint assessment. Results Compared to infants with CF (n = 63), the CRMS/CFSPID cohort (n = 63) had initially lower immunoreactive trypsinogen (IRT) and sweat chloride (SC) values, delayed visits, less symptoms, and better nutritional status; during follow‐up, they had fewer hospitalizations, Pseudomonas aeruginosa and methicillin‐resistant Staphylococcus aureus identification, CF comorbidities, and treatment burden. At endpoint assessment, they presented a milder pulmonary phenotype on Brody computed tomography scores (0.0[0.0; 2.0] vs 13[2.0; 31.0]; P < .0001, respectively), Wisconsin and Brasfield chest radiograph scores, pulmonary function tests, and improved nutritional status. Among the inconclusive CF diagnosis cohort, 28 cases (44%) converted to CF diagnosis based on genotype (44%), SC (28%) or both (28%); yet, comparing those with or without final CF diagnosis, we found no differences, possibly related to their young age and mild degree of lung disease. In the total cohort, we found significant associations between Brody scores and IRT, SC values, genotype, Wisconsin and Brasfield score and spirometry. Conclusions The matched CRMS/CFSPID and CF cohorts showed differences in outcomes. By a mean age of 7.6 years, a high proportion of the CRMS/CFSPID cohort converted to CF. Our results highlight that monitoring at CF clinics until at least 6 years is needed as well as further studies.

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The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe

Abstract: There has been a steady increase in national CF NBS programmes across Europe with variable strategies and outcomes that reflect the different approaches.

Cited by 99 publications

References 12 publications

Cystic fibrosis newborn screening: outcome of infants with normal sweat tests

Cystic fibrosis newborn screening: outcome of infants with normal sweat tests

Cystic fibrosis in the year 2020: A disease with a new face

Phenotype of children with inconclusive cystic fibrosis diagnosis after newborn screening

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