Comparison between Gibson–Cooke and Macroduct Methods in the Cystic Fibrosis Neonatal Screening Program and in Subjects Who Are Cystic Fibrosis Screen-Positive with an Inconclusive Diagnosis

Dolce, Daniela; Fevola, Cristina; Camera, Erica; Orioli, Tommaso; Lucenteforte, Ersilia; Malanima, Marco; Taccetti, Giovanni; Terlizzi, Vito

doi:10.3390/ijns9030041

Cited by 7 publications

(1 citation statement)

References 32 publications

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“…A recent study by D olce et al . [ 39 ] compared Macroduct with the Gibson–Cooke method and found no statistically significant differences between the percentages of valid tests with both methods.…”

Section: Discussionmentioning

confidence: 99%

Single-centre prospective evaluation of the first 5 years of cystic fibrosis newborn screening in Germany

Gesenhues,

Michel,

Greve

et al. 2024

ERJ Open Res

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BackgroundIn 2016 a nationwide Cystic Fibrosis Newborn-Screening (CFNS) was newly implemented in Germany, using an IRT/PAP/DNA screening algorithm that differs from most other nationwide screening programs.MethodsWe analysed real-life feasibility of the confirmation process with respect to our pre-specified procedural objectives. These included overall accuracy through false negative and positive results, effectiveness of the Bavarian tracking system, and accuracy of Macroduct or Nanoduct sweat conductivity compared to quantitative chloride determination. All consecutive CFNS-positive newborns assigned to our CF center and born between September 1, 2016, and August 31, 2021 (n=162) were included.ResultsThe German CFNS was feasible at our CF center as all procedural objectives were met. Positive predictive value (PPV) of positive CFNS was low (0.23) and two initially negatively screened children were later diagnosed with cystic fibrosis (CF). The tracking system was highly efficient with a 100% tracking rate. The Macroduct and Nanoduct systems had a comparable success rate (93.2%versus95.9%). Importantly, conductivityviaMacroduct was more accurate thanviaNanoduct (0 and 4 false positive newborns, respectively).ConclusionsCF confirmation diagnostics of neonates in a certified regional CF center was well managed in daily routine. Positive predictive value of the German CFNS needs to be improved,e.g.by extending the DNA analysis within the screening algorithm and by increasing the number of variants tested. The Bavarian tracking system can serve as a successful model for other tracking systems. We preferred the Macroduct system because of its more accurate sweat conductivity readings.

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Section: Discussionmentioning

confidence: 99%

Single-centre prospective evaluation of the first 5 years of cystic fibrosis newborn screening in Germany

Gesenhues,

Michel,

Greve

et al. 2024

ERJ Open Res

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Literary evidence of the impact of nonbiological risk factors on CRMS/CFSPID: A scoping review

Rose,

Dabbs,

O'Hagan

et al. 2024

Pediatric Pulmonology

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Newborn screening for cystic fibrosis (CF) occasionally results in an inconclusive diagnosis of this disease, and these individuals are designated as CFTR‐related metabolic syndrome (CRMS) in the United States, and CF Screen Positive Inconclusive Diagnosis (CFSPID) in other countries. Some of these asymptomatic individuals will progress to symptomatic disease, but risk factors associated with disease progression are not well understood. This scoping review was conducted to comprehensively map nonbiological risk factors in the CRMS/CFSPID literature and to identify understudied topics. Six electronic databases were systematically searched, resulting in 2951 studies. Forty nine eligible works were identified as including information on nonbiological risk factors related to CRMS/CFPSID. Eligible studies were published from 2002 to 2024, most prevalently in the United States (36.7%), and as quantitative data (81.6%). Of the 49 eligible works, 23 articles contributed only intellectual conjecture, while 26 articles contained original data, which underwent full‐text qualitative content analysis. Key themes identified in descending order of content coverage included Psychological Impact, Management Care, Newborn Screening and Diagnostics, Communicating Diagnosis, and Lifestyle and External Exposures. This scoping review identified that while nonbiological risk factors are being studied in the CRMS/CFSPID literature, there was nearly equal distribution of works gathering original data to those citing previously published information. These findings indicate a critical need for original data collection on these risk factors, particularly on understudied topics identified herein.

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Emerging biomarkers for precision diagnosis and personalized treatment of cystic fibrosis

Addissouky,

Sayed,

Ali

et al. 2024

J Rare Dis

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Background Cystic fibrosis (CF) is a fatal genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, disrupting ion transport. This results in organ damage and reduced life expectancy. Main body of the abstract Recent therapeutic advances targeting CFTR dysfunction have transformed treatment. CFTR modulator drugs directly target molecular defects underlying CF. Ivacaftor was the first approved potentiator benefiting gating mutations. Correctors like lumacaftor/ivacaftor and newer triple therapy combinations more effectively address the prevalent F508del mutation by improving CFTR processing. Gene and mRNA therapies also show promise, with preclinical studies editing CFTR in stem cell-derived epithelia and mRNA supplementation stabilizing acute exacerbations. Short conclusion Targeting CFTR dysfunction through small molecules, gene editing, and cell-based therapies represents a paradigm shift from symptom management to addressing genetic causes. Expanding access to innovative treatments across all patient subgroups may modify disease progression. While awaiting genetic cures, emerging strategies provide hope that CF outcomes can transition from early lethality to a chronic condition with an improved life expectancy and quality of life.

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Comparison between Gibson–Cooke and Macroduct Methods in the Cystic Fibrosis Neonatal Screening Program and in Subjects Who Are Cystic Fibrosis Screen-Positive with an Inconclusive Diagnosis

Cited by 7 publications

References 32 publications

Single-centre prospective evaluation of the first 5 years of cystic fibrosis newborn screening in Germany

Single-centre prospective evaluation of the first 5 years of cystic fibrosis newborn screening in Germany

Literary evidence of the impact of nonbiological risk factors on CRMS/CFSPID: A scoping review

Emerging biomarkers for precision diagnosis and personalized treatment of cystic fibrosis

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