Cystic fibrosis newborn screening: Five-year experience from a tertiary care center
Corresponding Author
Halime Nayir Buyuksahin MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Correspondence Halime Nayir Buyuksahin, MD, Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Email: [email protected]
Contribution: Conceptualization (equal), Data curation (equal), Methodology (equal), Writing - original draft (equal), Writing - review & editing (equal)
Search for more papers by this authorNagehan Emiralioglu MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Search for more papers by this authorBeste Ozsezen MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Formal analysis (equal)
Search for more papers by this authorDilber Ademhan Tural MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Formal analysis (equal)
Search for more papers by this authorBirce Sunman MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Formal analysis (equal)
Search for more papers by this authorIsmail Guzelkas MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Formal analysis (equal)
Search for more papers by this authorBasak Tezel MD
General Directorate of Public Health, Ministry of Health, Ankara, Turkey
Search for more papers by this authorDidem Dayangaç Erden
Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey
Search for more papers by this authorEbru Yalçın MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Writing - review & editing (equal)
Search for more papers by this authorDeniz Dogru MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Writing - review & editing (equal)
Search for more papers by this authorUgur Ozcelik MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Writing - review & editing (equal)
Search for more papers by this authorNural Kiper MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Writing - review & editing (equal)
Search for more papers by this authorCorresponding Author
Halime Nayir Buyuksahin MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Correspondence Halime Nayir Buyuksahin, MD, Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
Email: [email protected]
Contribution: Conceptualization (equal), Data curation (equal), Methodology (equal), Writing - original draft (equal), Writing - review & editing (equal)
Search for more papers by this authorNagehan Emiralioglu MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Search for more papers by this authorBeste Ozsezen MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Formal analysis (equal)
Search for more papers by this authorDilber Ademhan Tural MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Formal analysis (equal)
Search for more papers by this authorBirce Sunman MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Formal analysis (equal)
Search for more papers by this authorIsmail Guzelkas MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Formal analysis (equal)
Search for more papers by this authorBasak Tezel MD
General Directorate of Public Health, Ministry of Health, Ankara, Turkey
Search for more papers by this authorDidem Dayangaç Erden
Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey
Search for more papers by this authorEbru Yalçın MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Writing - review & editing (equal)
Search for more papers by this authorDeniz Dogru MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Writing - review & editing (equal)
Search for more papers by this authorUgur Ozcelik MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Writing - review & editing (equal)
Search for more papers by this authorNural Kiper MD
Department of Pediatric Pulmonology, School of Medicine, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey
Contribution: Writing - review & editing (equal)
Search for more papers by this authorAbstract
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.
CONFLICT OF INTERESTS
The authors declare that there are no conflict of interests.
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