Cystic fibrosis newborn screening: Five-year experience from a tertiary care center

Background Newborn screening (NBS) for cystic fibrosis (CF) was implemented in our country on January 1, 2015, based on immunoreactive trypsinogen tests (IRT/IRT). Here, we aimed to evaluate the diagnoses of patients and follow-up process within the first 5 years of NBS from a tertiary care center. Methods This retrospective cohort study was conducted on patients who were admitted to our pediatric pulmonology department for sweat test (ST) via NBS. Patients with CF with negative NBS results and those with CF with positive NBS and joined our follow-up were also investigated. Clinical outcome measures were compared between patients with CF with positive and negative NBS. Results Six hundred sixty infants who were referred for ST via NBS were included. Across the entire study population (n = 683), 11.4% of patients had CF (14.1% of had negative NBS in this CF group). The sensitivity of NBS was found as 84.9% and the positive predictive value (PPV) was 9.4%. The median age at diagnosis was older (p < 0.001), reluctance for feeding and Pseudobartter syndrome (PBS) were significantly higher at presentation in the negative NBS group. There was no statistically significant difference between the groups regarding weight-for-age (p = 0.899) and height-for-age (p = 0.491) in the first 2 years' follow-ups. Conclusions Our findings showed the low sensitivity and PPV of NBS; therefore, further studies based on all patients in our country are necessary for new cut-off values. PBS and reluctance for feeding should be alarm symptoms for CF even if the infants had negative NBS. Additionally, later diagnosis of patients who had negative NBS did not affect the nutritional outcomes; we need large-scale prospective studies to optimize nutritional benefits for all infants diagnosed via NBS.

Automated summary

The study found low sensitivity and positive predictive value of NBS for cystic fibrosis, with infants who tested negative showing symptoms such as feeding reluctance and Pseudobartter syndrome. Early diagnosis did not significantly impact nutritional outcomes, highlighting the need for further large-scale studies to optimize care for infants diagnosed through NBS.