Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program

ÖZCAN, Dilek; özdemir, ali

doi:10.5152/TurkThoracJ.2019.18187

Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program

Ali ÖZDEMİR, (Mersin Şehir Eğitim ve Araştırma Hastanesi, Pediatri Bölümü, Bölgesel Akciğer Pediatrisi, Mersin, Türkiye)

Dilek DOĞRUEL (Çukurova Üniversitesi Sağlık Okulu, Pediatri Bölümü, Alerjik Pediatri, Adana, Türkiye)

Turkish Thoracic Journal

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Yıl: 2020 Cilt: 21 Sayı: 2 Sayfa Aralığı: 100 - 104 Metin Dili: İngilizce DOI: 10.5152/TurkThoracJ.2019.18187 İndeks Tarihi: 06-10-2020

Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program

Öz:

OBJECTIVES: A national newborn screening program for cystic firosis (CF) was started using immunoreactive trypsinogen (IRT) test onJanuary 1, 2015, in Turkey. We aimed to analyze the characteristics of newborn screen-positive (NBSP) infants in Mersin province.MATERIALS AND METHODS: The data on NBSP infants were retrospectively analyzed between 2015 and 2017 from records of MersinWomen & Children's Hospital and Mersin City Training and Research Hospital.RESULTS: A total of 82,273 newborns were screened for CF by IRT test between January 2015 and December 2017 in Mersin. Amongthose, 512 infants were defied as NBSP after two repeated IRT tests (IRT/IRT) (138 infants in 2015, 217 in 2016, and 157 in 2017). Sweattest was normal in the majority of infants (115 infants [83.3%] in 2015, 189 [87.1%] in 2016, and 129 [82.2%] in 2017). Overall, between 2015 and 2017, after two repeated sweat tests, 4 infants had sweat test results in the intermediate range and 9 infants had positivesweat tests. The incidence of CF for a 3-year period was approximately 1/9300 in our region. The positive predictive value of IRT test fordefiing CF was 1.8%, with a sensitivity of 90.0% and specifiity of 99.4%.CONCLUSION: IRT/IRT test as a newborn screening strategy provides the opportunity for earlier diagnosis and treatment of CF patients.More data are needed to understand the frequency of CF on a national level.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

1. Anselmo MA, Lands LC. Cystic firosis: overview. Taussig LM, Landau LIL, Le Souef PN, Morgan WJ, Martinez FD, Sly PD, editors. Pediatric Respiratory Medicine (2nd ed) Philadelphia: Mosby; 2008:845-57.
2. Tiddens H, Rosenfeld M. Cystic firosis: respiratory manifestations. Taussig LM, Landau LIL, Le Souef PN, Morgan WJ, Martinez FD, Sly PD, editors. Pediatric Respiratory Medicine (2nd ed). Philadelphia: Mosby; 2008: 871-87.
3. Zvereff VV, Faruki H, Edwards M, et al. Cystic firosis carrier screening in a North American population. Genet Med 2014;16:539-46. [CrossRef]
4. Kiper N. Kistik kibrozis; ülkemizdeki durum. J Curr Pediatr 2007:5.
5. Collins FS, Riordan JR, Tsui LC. The cystic firosis gene: isolation and signifiance. Hosp Pract (Off Ed) 1990;25:47-57. [CrossRef]
6. Sosnay PR, Raraigh KS, Gibson RL. Molecular genetics of cystic firosis transmembrane conductance regulator: genotype and phenotype. Pediatr Clin North Am 2016;63:585-98. [CrossRef]
7. Available from: https://www.ecfs.eu/projects/ecfs-patient-registry/annual-reports.
8. Crossle JR, Elliott RB, Smith PA. Dried-blood spot screening for cystic firosis in the newborn. Lancet 1979;1:472-4. [CrossRef]
9. Southern KW, Munck A, Pollitt R, et al. A survey of newborn screening for cystic firosis in Europe. J Cyst Fibros 2007;6:57- 65. [CrossRef]
10. Borowitz D, Robinson KA, Rosenfeld M, et al. Cystic Fibrosis Foundation evidence-based guidelines for management of infants with cystic firosis. J Pediatr 2009;155:73-93. [CrossRef]
11. Tridello G, Castellani C, Meneghelli I, et al. Early diagnosis from newborn screening maximises survival in severe cystic firosis. ERJ Open Res 2018;4:00109-2017. [CrossRef]
12. Ersu R, Çakır E. Kistik firozis yenidoğan tarama testi ile tanı alan hastaları izleme rehberi. Ankara: T.C. Sağlık Bakanlığı Türkiye Halk Sağlığı Kurumu 2015:6.
13. Li L, Zhou Y, Bell CJ, et al. Development and characterization of dried blood spot materials for the measurement of immunoreactive trypsinogen. J Med Screen 2006;13:79-84. [CrossRef]
14. Machogu E, Ren CL. Novel insights into the diagnostic and therapeutic challenges of the CFTR metabolic syndrome/CF screen positive indeterminate diagnosis. Pediatr Pulmonol 2016;51:45- 8. [CrossRef]
15. Barben J, Southern KW. Cystic firosis screen positive, inconclusive diagnosis. Curr Opin Pulm Med 2016;22:617-22. [CrossRef]
16. Southern KW, Munck A, Pollitt R, et al. A survey of newborn screening for cystic firosis in Europe. J Cyst Fibros 2007;6:57-65. [CrossRef]
17. Calvin J, Hogg SL, McShane D, et al. Thirty-years of screening for cystic firosis in East Anglia. Arch Dis Child 2012;97:1043- 7. [CrossRef]
18. Sands D, Zybert K, Mierzejewska E, et al. Diagnosing cystic fbrosis in newborn screening in Poland - 15 years of experience. Dev Period Med 2015;19:16-24.
19. Rodrigues R, Magalhaes PK, Fernandes MI, et al. Neonatal screening for cystic firosis in São Paulo State, Brazil: a pilot study. Braz J Med Biol Res 2009;42:973-8. [CrossRef]
20. Massie RJ, Olsen M, Glazner J, et al. Newborn screening for cystic firosis in Victoria: 10 years' experience (1989-1998). Med J Aust 2000;172:584-7. [CrossRef]
21. Sarles J, Giorgi R, Berthézène P, et al. Neonatal screening for cystic firosis: comparing the performances of IRT/DNA and IRT/PAP. J Cyst Fibros 2014;13:384-90. [CrossRef]
22. Sontag MK, Lee R, Wright D, et al. Improving the Sensitivity and Positive Predictive Value in a Cystic Fibrosis Newborn Screening Program Using a Repeat Immunoreactive Trypsinogen and Genetic Analysis. J Pediatr 2016;175:150-8. [CrossRef]
23. Sommerburg O, Krulisova V, Hammermann J, et al. Comparison of different IRT-PAP protocols to screen newborns for cystic firosis in three central European populations. J Cyst Fibros 2014;13:15-23. [CrossRef]
24. Yalçın EG. Yenidoğan taramasında neredeyiz? 8. Çocuk Solunum Yolu Hastalıkları ve Kistik Fibrozis Kongresi. 9-12 Mayıs 2018, Ankara. p 11. Available from:http://www.cocuksolunum2018.org/

APA	özdemir a, ÖZCAN D (2020). Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program. , 100 - 104. 10.5152/TurkThoracJ.2019.18187
Chicago	özdemir ali,ÖZCAN Dilek Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program. (2020): 100 - 104. 10.5152/TurkThoracJ.2019.18187
MLA	özdemir ali,ÖZCAN Dilek Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program. , 2020, ss.100 - 104. 10.5152/TurkThoracJ.2019.18187
AMA	özdemir a,ÖZCAN D Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program. . 2020; 100 - 104. 10.5152/TurkThoracJ.2019.18187
Vancouver	özdemir a,ÖZCAN D Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program. . 2020; 100 - 104. 10.5152/TurkThoracJ.2019.18187
IEEE	özdemir a,ÖZCAN D "Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program." , ss.100 - 104, 2020. 10.5152/TurkThoracJ.2019.18187
ISNAD	özdemir, ali - ÖZCAN, Dilek. "Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program". (2020), 100-104. https://doi.org/10.5152/TurkThoracJ.2019.18187

APA	özdemir a, ÖZCAN D (2020). Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program. Turkish Thoracic Journal, 21(2), 100 - 104. 10.5152/TurkThoracJ.2019.18187
Chicago	özdemir ali,ÖZCAN Dilek Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program. Turkish Thoracic Journal 21, no.2 (2020): 100 - 104. 10.5152/TurkThoracJ.2019.18187
MLA	özdemir ali,ÖZCAN Dilek Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program. Turkish Thoracic Journal, vol.21, no.2, 2020, ss.100 - 104. 10.5152/TurkThoracJ.2019.18187
AMA	özdemir a,ÖZCAN D Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program. Turkish Thoracic Journal. 2020; 21(2): 100 - 104. 10.5152/TurkThoracJ.2019.18187
Vancouver	özdemir a,ÖZCAN D Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program. Turkish Thoracic Journal. 2020; 21(2): 100 - 104. 10.5152/TurkThoracJ.2019.18187
IEEE	özdemir a,ÖZCAN D "Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program." Turkish Thoracic Journal, 21, ss.100 - 104, 2020. 10.5152/TurkThoracJ.2019.18187
ISNAD	özdemir, ali - ÖZCAN, Dilek. "Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program". Turkish Thoracic Journal 21/2 (2020), 100-104. https://doi.org/10.5152/TurkThoracJ.2019.18187