Dergiler / Turkish Journal of Medical Sciences / 2019 / Cilt: 49 - Sayı: 6

Initial regional evaluation of the Cystic Fibrosis Newborn Screening Program: data from the Mediterranean coast of Turkey

Sayfa
1655–1661
Yayın Tarihi
2022-11-05
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

As false positive results are extremely high in Turkey, there is an urgent need for revision of the IRT-1 and IRT-2 limits byevaluating the data of the whole country.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Background/ aim: Since January 2015, the Cystic Fibrosis Newborn Screening (CFNS) program has been implemented in Turkey.
📊
Temel Bulgular & Veri:Weaimed to evaluate the demographic, clinical, and laboratory data of cases referred from the CFNS program and to determine the mostsuitable cut-off value for immunoreactive trypsinogen (IRT)-1 and immunoreactive trypsinogen (IRT-2) that are used in the CFNSprogram in Turkey.Materials and methods: A total of 156 Turkish Caucasian subjects were determined as positive cases during 3 years, from January 2015to January 2018, and were referred to the pediatric pulmonology clinics of Akdeniz University Hospital, Antalya, Turkey, for the nationalCFNS program.
💡
Sonuç & Katkı:As false positive results are extremely high in Turkey, there is an urgent need for revision of the IRT-1 and IRT-2 limits byevaluating the data of the whole country.
🔬Tür:Araştırma Makalesi
📍Kapsam:2015 Verileri
⚙️Değişkenler:Alan Parametreleri

Abstract

Background/ aim: Since January 2015, the Cystic Fibrosis Newborn Screening (CFNS) program has been implemented in Turkey. Weaimed to evaluate the demographic, clinical, and laboratory data of cases referred from the CFNS program and to determine the mostsuitable cut-off value for immunoreactive trypsinogen (IRT)-1 and immunoreactive trypsinogen (IRT-2) that are used in the CFNSprogram in Turkey.Materials and methods: A total of 156 Turkish Caucasian subjects were determined as positive cases during 3 years, from January 2015to January 2018, and were referred to the pediatric pulmonology clinics of Akdeniz University Hospital, Antalya, Turkey, for the nationalCFNS program. The evaluation was made considering the IRT-1 and IRT-2 values, demographic characteristics, sweat test results, CFTRgenotypes, and diagnoses.Results: Nine patients were diagnosed with cystic fibrosis (CF). Eight were diagnosed with CF-related metabolic syndromes and threewere determined to be CF carriers. The ratio of CF to CF-related metabolic syndrome was determined as 1.1:1. Considering the limitsof the present CFNS program and the IRT method, the positive predictive value (PPV) for the referred cases was determined as 5.8%.When a cut-off value of 105.6 ng/mL was taken for IRT-1, sensitivity was 100%, specificity was 59%, and PPV was 12.8%. For a cut-offvalue of 88.75 ng/mL for IRT-2, sensitivity was determined as 90%, specificity as 65%, and PPV as 15.2%.Conclusion: This is the first detailed clinical study to evaluate the data from the CFNS program along the Mediterranean coast ofTurkey. As false positive results are extremely high in Turkey, there is an urgent need for revision of the IRT-1 and IRT-2 limits byevaluating the data of the whole country.

🔖

Bu Makaleye Atıf Yap

BİNGÖL, A., ACICAN, D., ALPER, Ö., BAŞARAN, A., BAŞARAN, A. E., UYGUN, D. F. K. (2022). Initial regional evaluation of the Cystic Fibrosis Newborn Screening Program: data from the Mediterranean coast of Turkey. Turkish Journal of Medical Sciences, Cilt: 49 - Sayı: 6, 1655–1661. https://ajindex.com/articles/610178

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (13)

  1. Loeber JG, Burgard P, Cornel MC, Rigter T, Weinreich SS et al. Newborn screening programmes in Europe
  2. arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. Journal of Inherited Metabolic Disease 2012
  3. doi: 10.1007/s10545-012-9483-0 2. Burgard P, Rupp K, Lindner M, Haege G, Rigter T et al. Newborn screening programmes in Europe
  4. arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance. Journal of Inherited Metabolic Disease 2012
  5. doi: 10.1007/ s10545-012-9484-z 3. Crossley JR, Elliott RB, Smith PA. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet 1979
  6. doi: 10.1016/s0140-6736(79)90825-0 4. Wilcken B. Newborn screening for cystic fibrosis: techniques and strategies. Journal of Inherited Metabolic Disease 2007
  7. doi: 10.1007/s10545-007-0584-0 5. Southern KW. Determining the optimal newborn screening protocol for cystic fibrosis. Thorax 2012
  8. doi: 10.1136/thoraxjnl-2012-201589 6. Therrell BL, Hannon WH, Hoffman G, Ojodu J, Farrell PM. Immunoreactive trypsinogen (IRT) as a biomarker for cystic fibrosis: challenges in newborn dried blood spot screening. Molecular Genetics and Metabolism 2012
  9. doi: 10.1016/j.ymgme.2012.02.013 7. Emiralioğlu N, Özçelik U, Yalçın E, Doğru D, Kiper N. Diagnosis of cystic fibrosis with chloride meter (Sherwood M926S chloride analyzer®) and sweat test analysis system (CFΔ collection system ®) compared to Gibson Cooke method. Turkish Journal of Pediatrics 2016
  10. doi: 10.24953/ turkjped.2016.01.004 8. Paracchini V, Seia M, Raimondi S, Costantino L, Capasso P et al. Cystic fibrosis newborn screening: distribution of blood immunoreactive trypsinogen concentrations in hypertrypsinemic neonates. JIMD Reports 2012
  11. doi: 10.1007/8904_2011_55 9. Ren CL, Borowitz DS, Gonska T, Howenstine MS, Levy H et al. Cystic fibrosis transmembrane conductance regulatorrelated metabolic syndrome and cystic fibrosis screen positive, inconclusive diagnosis. Journal of Pediatrics 2017
  12. doi: 10.1016/j.jpeds.2016.09.066 10. Alper OM, Erengin H, Manguoğlu AE, Bilgen T, Cetin Z et al. Consanguineous marriages in the province of Antalya, Turkey. Annales de Genetique 2004
  13. doi: 10.1016/j. anngen.2003.09.001 11. Koç I, Eryurt MA. The causal relationship between consanguineous marriages and infant mortality in Turk