ACMJ
Anatolian Current Medical Journal

Anatolian Current Medical Journal (ACMJ) is an unbiased, peer-reviewed, and open access international medical journal. The Journal publishes interesting clinical and experimental research conducted in all fields of medicine, interesting case reports, and clinical images, invited reviews, editorials, letters, comments, and related knowledge.

eISSN: 2718-0115
Creative Commons CC BY-NC-ND 4.0 International License.
EndNote Style

Submit Manuscript

Index
Original Article
Incidence analysis of six diseases in the national newborn screening program: a retrospective study from Adıyaman, Turkiye (2019-2023)
Abstract
Aims: This study aimed to determine the incidence of diseases included in the national newborn screening program in Adıyaman, Turkey, over the past five years and to evaluate the relative status of Adıyaman compared to national and global data. The study also sought to identify potential risk factors based on demographic variables.
Methods: A retrospective, descriptive study was conducted in Adıyaman, Southeastern Turkey, analyzing heel blood sample data from 52,964 newborns between 2019 and 2023. The study excluded cases with unsuitable or retaken heel blood samples, partial biotinidase deficiency, and partial phenylalaninemia. Annual incidence rates were calculated based on confirmed diagnoses from relevant clinics.
Results: The five-year incidence rates in Adıyaman were found to be higher than the national averages for phenylketonuria (1:2407), congenital hypothyroidism (1:582), biotinidase deficiency (1:481), cystic fibrosis (1:10593), congenital adrenal hyperplasia (1:5864), and spinal muscular atrophy (1:9489). No statistically significant differences were identified based on gender, birth weight, birth week, or maternal nationality, except for biotinidase deficiency, which was significantly higher in infants of Turkish mothers.
Conclusion: The study highlights a higher incidence of screened diseases in Adıyaman than national averages, particularly biotinidase deficiency. Further research is recommended to investigate these findings and to address potential causes, such as consanguineous marriages.

Keywords : Newborn screening, phenylketonuria, biotinidase deficiency, congenital hypothyroidism, incidence

Download Article


1. Alhusseini N, Almuhanna Y, Alabduljabbar L, et al. International newborn screening: where are we in Saudi Arabia? <em>J Epidemiol Glob Health</em>. 2024;14(3):638-644.
2. Odenwald B, Brockow I, Hanauer M, L&uuml;ders A, Nennstiel U. Is our newborn screening working well? A literature review of quality requirements for newborn blood spot screening (NBS) infrastructure and procedures. <em>Int J Neonatal Screen</em>. 2023;9(3):35.
3. Akova İ, Kılı&ccedil; E, Koşaroğlu NE. Evaluation of ten-year screening program results for neonatal metabolic and endocrine diseases: the case of Sivas, Turkey. <em>Turk J Public Health</em>. 2022;20(3):410-422.
4. Wilson J, Jungner G. Principles and practice of screening for disease. world health organization. 1968. Available online: https://apps.who.int/iris/handle/10665/37650. Accessed June 11, 2024.
5. Toktaş İ, Sarıbaş S, Canpolat S, Erdem &Ouml;, &Ouml;zbek MN. Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study. <em>Turk J Pediatr</em>. 2022;64(6):985-992.
6. Yenidoğan metabolik ve endokrin hastalık tarama programı (NTP). T.C. Sağlık Bakanlığı. 2023. Available at: https://hsgm.saglik.gov.tr/tr/tarama-programlari/ntp.html. Accessed June 11, 2024.
7. Bayrak R, &Uuml;nsal A, &Uuml;nl&uuml; E. Examination of neonatal screening program results between 2015 and 2020 in Kırşehir Province. <em>Turk J Health Sci Res</em>. 2023;6(2):33-40.
8. Fabie NAV, Pappas KB, Feldman GL. The current state of newborn screening in the United States. <em>Pediatr Clin North Am</em>. 2019;66(2):369-386.
9. &Ouml;z E, K&uuml;&ccedil;&uuml;kkelep&ccedil;e O, Almış H, Parlak ME, Kurt O. Evaluation of infant deaths during COVID-19 pandemic in Adıyaman, a southeastern province of Turkey. <em>Adıyaman Univ J Health Sci</em>. 2023;9(1):1-9.
10. Yenidoğan metabolik ve endokrin hastalık tarama programı (NTP). T.C. Sağlık Bakanlığı program istatistikleri. 2023. Available at: https://hsgm.saglik.gov.tr/depo/birimler/cocuk-ergen-sagligi-db/Dokumanlar/Istatistikler/NTP.pdf. Accessed June 11, 2024.
11. van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM. Phenylketonuria. <em>Nat Rev Dis Primers.</em> 2021;7:36.
12. Hillert A, Anikster Y, Belanger-Quintana A, et al. The genetic landscape and epidemiology of phenylketonuria. <em>Am J Hum Genet</em>. 2020;107:234-250.
13. 2022 T&Uuml;İK aile istatistikleri. Available at: https://data.tuik.gov.tr/Bulten/Index?p=Istatistiklerle-Aile-2023-53784#:~:text=Akraba%20evlili%C4%9Fi%20oran%C4%B1%202023%20y%C4%B1l%C4%B1nda,%253%2C2%20oldu%C4%9Fu%20g%C3%B6r%C3%BCld%C3%BC. Accessed on: September 24th, 2024.
14. Minamitani K. Newborn screening for congenital hypothyroidism in Japan. <em>Int J Neonatal Screen</em>. 2021;7(3):34.
15. Ayta&ccedil; N, Y&uuml;z&uuml;g&uuml;ll&uuml; DA, G&ouml;n&uuml;ltaş T, Altınsu T, G&uuml;r &Ouml;, &Ccedil;atak &Ccedil;. Evaluation of newborn screening results in Adana province for phenylketonuria, congenital hypothyroidism, and biotinidase deficiency in 2010-2011. <em>Sağlık ve Toplum</em>. 2016;26(3):37-43.
16. Kazanasmaz H, Atas N, Karaca M. Specificity and sensitivity of biotinidase activity measured from dried blood spot by colorimetric method. <em>Ann Med Res</em>. 2019;26(10):2306-2311.
17. Sarar M, Wafa E, Al-Aqeel AI, et al. Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. <em>Saudi Med J</em>. 2020;41(7):703-708.
18. 2021 T&Uuml;İK doğum istatistikleri. Available at: https://data.tuik.gov.tr/Bulten/Index?p=Dogum-Istatistikleri-2021-45547. Accessed June 11, 2024.
19. Funghini S, Tonin R, Malvagia S, et al. High frequency of biotinidase deficiency in Italian population identified by newborn screening. <em>Mol Genet Metab Rep</em>. 2020;25:100689.
20. Maguolo A, Rodella G, Dianin A, et al. The experience of a regional center in Italy. <em>Front Pediatr</em>. 2021;9:661416.
21. &Ouml;zdemir A, Doğruel D. Newborn screening for cystic fibrosis in Mersin province: yearly assessment of the national program. <em>Turk Thorac J</em>. 2020;21(2):100.
22. Scotet V, L&rsquo;hostis C, F&eacute;rec C. The changing epidemiology of cystic fibrosis: incidence, survival and impact of the CFTR gene discovery. <em>Genes</em>. 2020;11(6):589.
23. Eshragh N, Doan LV, Connelly KJ, et al. Outcome of newborn screening for congenital adrenal hyperplasia at two time points. <em>Horm Res Paediatr</em>. 2020;93(2):128-136.
24. Verma J, Roy P, Thomas DC, et al. Newborn screening for congenital hypothyroidism, congenital adrenal hyperplasia, and glucose-6-phosphate dehydrogenase deficiency for improving health care in India. <em>J Pediatr Intensive Care</em>. 2020;9(01):40-44.
25. Lind-Holst M, B&aelig;kvad-Hansen M, Berglund A, et al. Neonatal screening for congenital adrenal hyperplasia in Denmark: 10 years of experience. <em>Horm Res Paediatr</em>. 2022;95(1):35-42.
26. Heather NL, Seneviratne SN, Webster D, et al. Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013. <em>J Clin Endocrinol Metab</em>. 2015;100(3):1002-1008.
27. 2022 T&Uuml;İK doğum istatistikleri. Available at: https://data.tuik.gov.tr/Bulten/Index?p=Birth-Statistics-2022-49673. Accessed June 11, 2024.
28. Lee BH, Deng S, Chiriboga CA, et al. Newborn screening for spinal muscular atrophy in New York state: clinical outcomes from the first 3 years. <em>Neurology</em>. 2022;99(14):e1527-e1537.
29. Kimizu T, Ida S, Okamoto K, et al. Spinal muscular atrophy: diagnosis, incidence, and newborn screening in Japan. <em>Int J Neonatal Screen</em>. 2021;7(3):45.
30. Vill K, Schwartz O, Blaschek A, et al. Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years<em>. Orphanet J Rare Dis</em>. 2021;16(1):153.
Article available in :
Volume 6, Issue 6, 2024
Page : 361-366
https://doi.org/10.38053/acmj.1532044
Article Information
Received : 29 Haz 2024
Accepted : 22 Tem 2024
Published : 28 Eki 2024
Corresponding Author :

Osman Küçükkelepçe: Department of Public Health, Adıyaman Provincial Health Directorate, Adıyaman, Turkiye

[email protected]
Citation : Küçükkelepçe O, Konyalıoğlu S,Kurt O. Incidence analysis of six diseases in the national newborn screening program: a retrospective study from Adıyaman, Turkiye (2019-2023). Anatolian Curr Med J. 2024;6(6):361-366.

Read: 7
Cited: 0
Download : 3
_Footer