ArticleCureus2026
Newborn Screening for Cystic Fibrosis and Its Incidence at a Tertiary Care Center in Saudi Arabia: A Retrospective Study.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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8 authors.
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Abstract
backgroundCystic fibrosis (CF) is a life-limiting genetic disorder where early detection via newborn screening (NBS) significantly improves clinical outcomes. Data regarding CF incidence and NBS efficacy in Saudi Arabia remain limited. This single-center pilot study aimed to evaluate the primary diagnostic performance, local incidence, and CFTR genotype distribution using an immunoreactive trypsinogen (IRT)-IRT NBS protocol implemented exclusively at our institution, Prince Sultan Military Medical City (PSMMC), Riyadh.
methodsA retrospective analysis was conducted on 10,286 newborns screened. between May 2017 and April 2019 using a two-tiered IRT sequence (Day 1 and Day 5). Screen-positive infants underwent confirmatory sweat conductivity analysis and CFTR variant testing.
resultsThree infants were confirmed with CF, yielding a regional incidence of 1:3,429 live births (2.9 per 10,000). Day 5 IRT levels were significantly higher in confirmed CF cases than in non-CF infants (136.07 ± 27.24 vs. 19.44 ± 13.08 ng/mL, p = 0.003) and strongly correlated with sweat conductivity (r = 0.698, p < 0.001). Receiver operating characteristic (ROC) analysis identified an optimal Day 5 IRT cutoff of 114.9 ng/mL (area under the ROC curve (AUC)= 0.999), demonstrating 75.0% sensitivity and 99.8% specificity. Genetic confirmation identified three distinct homozygous variants (c.1416delG, I1234V, and c.1418delG).
conclusionThis descriptive pilot study conducted at our center demonstrates the feasibility and diagnostic utility of the IRT-IRT screening protocol for early CF detection. To build upon these single-center findings and support the development of a comprehensive national screening strategy, future multi-center studies across Saudi Arabia are recommended.
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