A retrospective cohort study of children diagnosed with Cystic Fibrosis after implementation of a newborn screening program in Turkey

Handan Kekeç; Tuğba Şişmanlar Eyüboğlu; Ayşe Tana Aslan; Zeynep İlkşen Hocoğlu; Ebru Yalçın; Birce Sunman; Burcu Çapraz Yavuz; Velat Şen; Suat Savaş; Ayşe Ayzıt Kılınç; Azer Kılıç Başkan; Hakan Yazan; Gökçen Ünal; Yakup Canıtez; Nihat Sapan; Figen Gülen; Gökçen Kartal Öztürk; Özlem Keskin; Elif Arık; Mehmet Köse; Ali Ersoy; Derya Ufuk Altıntaş; Mahir Serbes; Abdurrahman Erdem Başaran; Ayşen Bingöl; Ali Özdemir; Meral Barlık; Gökşen Dilşa Tuğcu; Işıl Bilgiç; Hülya Anıl; Beste Özsezen; Merve Nur Tekin; Hasan Yüksel; Gönül Çaltepe; Melih Hangül; Zeynep Gökçe Gayretli Aydın; Mehmet Kılıç; Mina Hızal; Nilay Baş İkizoğlu; Gizem Özcan; Nagehan Emiralioğlu; Güzin Cinel; Sevgi Pekcan; Erkan Çakır; Uğur Özçelik; Deniz Doğru

doi:10.1016/j.rmed.2025.108047

A retrospective cohort study of children diagnosed with Cystic Fibrosis after implementation of a newborn screening program in Turkey

Handan Kekeç
, Tuğba Şişmanlar Eyüboğlu
, Ayşe Tana Aslan
, Zeynep İlkşen Hocoğlu
, Ebru Yalçın
, Birce Sunman
, Burcu Çapraz Yavuz
, Velat Şen
, Suat Savaş
, Ayşe Ayzıt Kılınç
, Azer Kılıç Başkan
, Hakan Yazan
, Gökçen Ünal
, Yakup Canıtez
, Nihat Sapan
, Figen Gülen
, Gökçen Kartal Öztürk
, Özlem Keskin
, Elif Arık
, Mehmet Köse

Ali Ersoy, Derya Ufuk Altıntaş, Mahir Serbes, Abdurrahman Erdem Başaran, Ayşen Bingöl, Ali Özdemir, Meral Barlık, Gökşen Dilşa Tuğcu, Işıl Bilgiç, Hülya Anıl, Beste Özsezen, Merve Nur Tekin, Hasan Yüksel, Gönül Çaltepe, Melih Hangül, Zeynep Gökçe Gayretli Aydın, Mehmet Kılıç, Mina Hızal, Nilay Baş İkizoğlu, Gizem Özcan, Nagehan Emiralioğlu, Güzin Cinel, Sevgi Pekcan, Erkan Çakır, Uğur Özçelik, Deniz Doğru

Gazi University
Dicle University
Istanbul University - Cerrahpaşa
Bezmialem Vakif University
Necmettin Erbakan University
Uludag University
Ege University
Gaziantep University
Erciyes University
Cukurova University
Akdeniz University
Mersin City Hospital
Ankara City Hospital
Osmangazi University
Şanlıurfa Traning and Research Hospital
Ankara University
Manisa Celal Bayar University
Ondokuz Mayis University
Cengiz Gokcek Maternity and Children's Hospital
Karadeniz Technical University
Firat University
Dr. Sami Ulus Training and Research Hospital
Istanbul University
Kayseri City Hospital
Istinye University

Research output: Contribution to journal › Article › peer-review

Abstract

Introduction: Newborn screening (NBS) for cystic fibrosis (CF) facilitates early diagnosis and has been shown to significantly improve long-term clinical outcomes. In this study, we aimed to evaluate the 7-year results of the immunoreactive trypsinogen (IRT)/IRT NBS of Turkey. Methods: The study included all CF patients who were born after NBS implementation, and who were enrolled in the CF Registry of Turkey (CFRT) in 2022. Patients were divided into three groups according to NBS results: Group 1 with positive NBS, Group 2 with negative NBS, and Group 3 with no screening or unknown screening results. All clinical and demographic data were compared between the three groups. Results: A total of 853 patients were included in the study, 668 (78.3%) patients were in Group 1, 90 (10.5%) in Group 2, and 95 (11.2%) in Group 3. The age at diagnosis was 0.17 (0.08-0.33) years in Group 1, 0.50 (0.25-1.0) in Group 2, and 0.33 (0.17-0.75) in Group 3 (p<0.001). The first and second sweat test results and frequency of pancreatic insufficiency were lowest in Group 2 (p<0.05). Median FEV1 (%) was 88 (77-103) in Group 1, 90 (71.5-104) in Group 2, 89.5 (81.75-97.5) in Group 3 (p>0.05). 49% of the patients had a severe genotype and it was detected most frequently in Group 1 (p=0.021). Conclusions: Patients with pancreatic sufficiency may be missed by IRT/IRT NBS and lower and negative sweat test results may contribute to delays in CF diagnosis. Approximately 22% of patients are not diagnosed through this screening method.

Original language	English
Article number	108047
Pages (from-to)	108047
Journal	Respiratory Medicine
Volume	241
DOIs	https://doi.org/10.1016/j.rmed.2025.108047
Publication status	Published - May 2025

Keywords

Cystic fibrosis
IRT/IRT methods
Newborn screening

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10.1016/j.rmed.2025.108047

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Kekeç, H., Eyüboğlu, T. Ş., Aslan, A. T., Hocoğlu, Z. İ., Yalçın, E., Sunman, B., Yavuz, B. Ç., Şen, V., Savaş, S., Kılınç, A. A., Başkan, A. K., Yazan, H., Ünal, G., Canıtez, Y., Sapan, N., Gülen, F., Öztürk, G. K., Keskin, Ö., Arık, E., ... Doğru, D. (2025). A retrospective cohort study of children diagnosed with Cystic Fibrosis after implementation of a newborn screening program in Turkey. Respiratory Medicine, 241, 108047. Article 108047. https://doi.org/10.1016/j.rmed.2025.108047

@article{9f177726ba40432fa692cecf157df03d,

title = "A retrospective cohort study of children diagnosed with Cystic Fibrosis after implementation of a newborn screening program in Turkey",

abstract = "Introduction: Newborn screening (NBS) for cystic fibrosis (CF) facilitates early diagnosis and has been shown to significantly improve long-term clinical outcomes. In this study, we aimed to evaluate the 7-year results of the immunoreactive trypsinogen (IRT)/IRT NBS of Turkey. Methods: The study included all CF patients who were born after NBS implementation, and who were enrolled in the CF Registry of Turkey (CFRT) in 2022. Patients were divided into three groups according to NBS results: Group 1 with positive NBS, Group 2 with negative NBS, and Group 3 with no screening or unknown screening results. All clinical and demographic data were compared between the three groups. Results: A total of 853 patients were included in the study, 668 (78.3\%) patients were in Group 1, 90 (10.5\%) in Group 2, and 95 (11.2\%) in Group 3. The age at diagnosis was 0.17 (0.08-0.33) years in Group 1, 0.50 (0.25-1.0) in Group 2, and 0.33 (0.17-0.75) in Group 3 (p<0.001). The first and second sweat test results and frequency of pancreatic insufficiency were lowest in Group 2 (p<0.05). Median FEV1 (\%) was 88 (77-103) in Group 1, 90 (71.5-104) in Group 2, 89.5 (81.75-97.5) in Group 3 (p>0.05). 49\% of the patients had a severe genotype and it was detected most frequently in Group 1 (p=0.021). Conclusions: Patients with pancreatic sufficiency may be missed by IRT/IRT NBS and lower and negative sweat test results may contribute to delays in CF diagnosis. Approximately 22\% of patients are not diagnosed through this screening method.",

keywords = "Cystic fibrosis, IRT/IRT methods, Newborn screening",

author = "Handan Keke{\c c} and Ey{\"u}boğlu, \{Tuğba {\c S}i{\c s}manlar\} and Aslan, \{Ay{\c s}e Tana\} and Hocoğlu, \{Zeynep İlk{\c s}en\} and Ebru Yal{\c c}ın and Birce Sunman and Yavuz, \{Burcu {\c C}apraz\} and Velat {\c S}en and Suat Sava{\c s} and Kılın{\c c}, \{Ay{\c s}e Ayzıt\} and Ba{\c s}kan, \{Azer Kılı{\c c}\} and Hakan Yazan and G{\"o}k{\c c}en {\"U}nal and Yakup Canıtez and Nihat Sapan and Figen G{\"u}len and {\"O}zt{\"u}rk, \{G{\"o}k{\c c}en Kartal\} and {\"O}zlem Keskin and Elif Arık and Mehmet K{\"o}se and Ali Ersoy and Altınta{\c s}, \{Derya Ufuk\} and Mahir Serbes and Ba{\c s}aran, \{Abdurrahman Erdem\} and Ay{\c s}en Bing{\"o}l and Ali {\"O}zdemir and Meral Barlık and Tuğcu, \{G{\"o}k{\c s}en Dil{\c s}a\} and I{\c s}ıl Bilgi{\c c} and H{\"u}lya Anıl and Beste {\"O}zsezen and Tekin, \{Merve Nur\} and Hasan Y{\"u}ksel and G{\"o}n{\"u}l {\c C}altepe and Melih Hang{\"u}l and \{Gayretli Aydın\}, \{Zeynep G{\"o}k{\c c}e\} and Mehmet Kılı{\c c} and Mina Hızal and İkizoğlu, \{Nilay Ba{\c s}\} and Gizem {\"O}zcan and Nagehan Emiralioğlu and G{\"u}zin Cinel and Sevgi Pekcan and Erkan {\c C}akır and Uğur {\"O}z{\c c}elik and Deniz Doğru",

note = "Publisher Copyright: {\textcopyright} 2025 Elsevier Ltd",

year = "2025",

month = may,

doi = "10.1016/j.rmed.2025.108047",

language = "English",

volume = "241",

pages = "108047",

journal = "Respiratory Medicine",

issn = "0954-6111",

publisher = "W.B. Saunders Ltd",

}

Kekeç, H, Eyüboğlu, TŞ, Aslan, AT, Hocoğlu, Zİ, Yalçın, E, Sunman, B, Yavuz, BÇ, Şen, V, Savaş, S, Kılınç, AA, Başkan, AK, Yazan, H, Ünal, G, Canıtez, Y, Sapan, N, Gülen, F, Öztürk, GK, Keskin, Ö, Arık, E, Köse, M, Ersoy, A, Altıntaş, DU, Serbes, M, Başaran, AE, Bingöl, A, Özdemir, A, Barlık, M, Tuğcu, GD, Bilgiç, I, Anıl, H, Özsezen, B, Tekin, MN, Yüksel, H, Çaltepe, G, Hangül, M, Gayretli Aydın, ZG, Kılıç, M, Hızal, M, İkizoğlu, NB, Özcan, G, Emiralioğlu, N, Cinel, G, Pekcan, S, Çakır, E, Özçelik, U & Doğru, D 2025, 'A retrospective cohort study of children diagnosed with Cystic Fibrosis after implementation of a newborn screening program in Turkey', Respiratory Medicine, vol. 241, 108047, pp. 108047. https://doi.org/10.1016/j.rmed.2025.108047

TY - JOUR

T1 - A retrospective cohort study of children diagnosed with Cystic Fibrosis after implementation of a newborn screening program in Turkey

AU - Kekeç, Handan

AU - Eyüboğlu, Tuğba Şişmanlar

AU - Aslan, Ayşe Tana

AU - Hocoğlu, Zeynep İlkşen

AU - Yalçın, Ebru

AU - Sunman, Birce

AU - Yavuz, Burcu Çapraz

AU - Şen, Velat

AU - Savaş, Suat

AU - Kılınç, Ayşe Ayzıt

AU - Başkan, Azer Kılıç

AU - Yazan, Hakan

AU - Ünal, Gökçen

AU - Canıtez, Yakup

AU - Sapan, Nihat

AU - Gülen, Figen

AU - Öztürk, Gökçen Kartal

AU - Keskin, Özlem

AU - Arık, Elif

AU - Köse, Mehmet

AU - Ersoy, Ali

AU - Altıntaş, Derya Ufuk

AU - Serbes, Mahir

AU - Başaran, Abdurrahman Erdem

AU - Bingöl, Ayşen

AU - Özdemir, Ali

AU - Barlık, Meral

AU - Tuğcu, Gökşen Dilşa

AU - Bilgiç, Işıl

AU - Anıl, Hülya

AU - Özsezen, Beste

AU - Tekin, Merve Nur

AU - Yüksel, Hasan

AU - Çaltepe, Gönül

AU - Hangül, Melih

AU - Gayretli Aydın, Zeynep Gökçe

AU - Kılıç, Mehmet

AU - Hızal, Mina

AU - İkizoğlu, Nilay Baş

AU - Özcan, Gizem

AU - Emiralioğlu, Nagehan

AU - Cinel, Güzin

AU - Pekcan, Sevgi

AU - Çakır, Erkan

AU - Özçelik, Uğur

AU - Doğru, Deniz

PY - 2025/5

Y1 - 2025/5

N2 - Introduction: Newborn screening (NBS) for cystic fibrosis (CF) facilitates early diagnosis and has been shown to significantly improve long-term clinical outcomes. In this study, we aimed to evaluate the 7-year results of the immunoreactive trypsinogen (IRT)/IRT NBS of Turkey. Methods: The study included all CF patients who were born after NBS implementation, and who were enrolled in the CF Registry of Turkey (CFRT) in 2022. Patients were divided into three groups according to NBS results: Group 1 with positive NBS, Group 2 with negative NBS, and Group 3 with no screening or unknown screening results. All clinical and demographic data were compared between the three groups. Results: A total of 853 patients were included in the study, 668 (78.3%) patients were in Group 1, 90 (10.5%) in Group 2, and 95 (11.2%) in Group 3. The age at diagnosis was 0.17 (0.08-0.33) years in Group 1, 0.50 (0.25-1.0) in Group 2, and 0.33 (0.17-0.75) in Group 3 (p<0.001). The first and second sweat test results and frequency of pancreatic insufficiency were lowest in Group 2 (p<0.05). Median FEV1 (%) was 88 (77-103) in Group 1, 90 (71.5-104) in Group 2, 89.5 (81.75-97.5) in Group 3 (p>0.05). 49% of the patients had a severe genotype and it was detected most frequently in Group 1 (p=0.021). Conclusions: Patients with pancreatic sufficiency may be missed by IRT/IRT NBS and lower and negative sweat test results may contribute to delays in CF diagnosis. Approximately 22% of patients are not diagnosed through this screening method.

AB - Introduction: Newborn screening (NBS) for cystic fibrosis (CF) facilitates early diagnosis and has been shown to significantly improve long-term clinical outcomes. In this study, we aimed to evaluate the 7-year results of the immunoreactive trypsinogen (IRT)/IRT NBS of Turkey. Methods: The study included all CF patients who were born after NBS implementation, and who were enrolled in the CF Registry of Turkey (CFRT) in 2022. Patients were divided into three groups according to NBS results: Group 1 with positive NBS, Group 2 with negative NBS, and Group 3 with no screening or unknown screening results. All clinical and demographic data were compared between the three groups. Results: A total of 853 patients were included in the study, 668 (78.3%) patients were in Group 1, 90 (10.5%) in Group 2, and 95 (11.2%) in Group 3. The age at diagnosis was 0.17 (0.08-0.33) years in Group 1, 0.50 (0.25-1.0) in Group 2, and 0.33 (0.17-0.75) in Group 3 (p<0.001). The first and second sweat test results and frequency of pancreatic insufficiency were lowest in Group 2 (p<0.05). Median FEV1 (%) was 88 (77-103) in Group 1, 90 (71.5-104) in Group 2, 89.5 (81.75-97.5) in Group 3 (p>0.05). 49% of the patients had a severe genotype and it was detected most frequently in Group 1 (p=0.021). Conclusions: Patients with pancreatic sufficiency may be missed by IRT/IRT NBS and lower and negative sweat test results may contribute to delays in CF diagnosis. Approximately 22% of patients are not diagnosed through this screening method.

KW - Cystic fibrosis

KW - IRT/IRT methods

KW - Newborn screening

UR - https://www.scopus.com/pages/publications/105000908782

UR - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=performanshacettepe&SrcAuth=WosAPI&KeyUT=WOS:001465277600001&DestLinkType=FullRecord&DestApp=WOS_CPL

U2 - 10.1016/j.rmed.2025.108047

DO - 10.1016/j.rmed.2025.108047

M3 - Article

C2 - 40122405

AN - SCOPUS:105000908782

SN - 0954-6111

VL - 241

SP - 108047

JO - Respiratory Medicine

JF - Respiratory Medicine

M1 - 108047

ER -

A retrospective cohort study of children diagnosed with Cystic Fibrosis after implementation of a newborn screening program in Turkey

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