Medical Science | Open Access | DOI: https://doi.org/10.37547/tajmspr/Volume07Issue08-10

Expanded Newborn Screening for Inborn Errors of Metabolism: Perspectives for Uzbekistan

Akhmedova Diloram Ilkhamovna , Department of Pediatrics, Tashkent State Medical University, Tashkent, Uzbekistan
Khadjimukhamedova Shokhina Bakhodirovna , Department of Pediatrics, Tashkent State Medical University, Tashkent, Uzbekistan
Artikova Magina Akmalovna , Department of Pediatrics, Tashkent State Medical University, Tashkent, Uzbekistan

Abstract

Expanded newborn screening (ENS) for inborn errors of metabolism represents a crucial advancement in modern neonatology and public health. While many developed countries have already integrated tandem mass spectrometry into national screening programs, several low- and middle-income countries, including Uzbekistan, are still at the initial stages of implementation [1,6]. This review summarizes the global experience with ENS, highlights the clinical and economic benefits of early detection, and discusses the current state and future perspectives for Uzbekistan [20-22]. Strengthening laboratory capacity, training medical professionals, and developing sustainable policies will be essential for establishing an effective ENS program in the country.

 

Keywords

Expanded newborn screening, neonatology, pediatrics, inborn errors, tandem mass spectrometry, public health

References

Therrell BL, Padilla CD, Borrajo GJC, et al. Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023). Int J Neonatal Screen. 2024;10(2):38. doi:10.3390/ijns10020038

Health Resources & Services Administration (HRSA). Recommended Uniform Screening Panel (RUSP). 2025. Available at: https://newbornscreening.hrsa.gov/about-newborn-screening/recommended-uniform-screening-panel (accessed Aug 28, 2025).

HRSA. Previously Nominated Conditions—Conditions Added to the RUSP (includes Infantile Krabbe disease, 2024). 2025. Available at: https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/previous-nominations (accessed Aug 28, 2025).

International Society for Neonatal Screening (ISNS). Guidelines and Global Overview of Newborn Screening. 2023. Available at: https://www.isns-neoscreening.org/guidelines/

MetabERN. Newborn screening—Early detection of metabolic disorders. 2024. Available at: https://metab.ern-net.eu/newborn-screening-2/

Kononets V, Babenko A, Pankov VV, et al. Tandem mass spectrometry in screening for inborn errors of metabolism: a bibliometric analysis (1991–2024). Front Pediatr. 2025;13:1463294. doi:10.3389/fped.2025.1463294

Yu M, Li J, Liu L, et al. Cost-effectiveness analysis of newborn screening by tandem mass spectrometry in Shenzhen, China. BMC Health Serv Res. 2022;22:1323. doi:10.1186/s12913-022-08394-4

Rana R, Keramat SA, Ahmed M. Cost-effectiveness of newborn screening for severe combined immunodeficiency: a systematic review. Clin Exp Pediatr. 2025;Epub ahead of print. doi:10.3345/cep.2025.00052

Shih STF, Keller E, Wiley V, Wong M, Farrar MA, Chambers GM. Economic evaluation of newborn screening for severe combined immunodeficiency. Int J Neonatal Screen. 2022;8(3):44. doi:10.3390/ijns8030044

Yoo N, Kim S, Kim J, Ahn JG, Kang I, Shin JJ. The clinical and socioeconomic aspects of T-cell receptor excision circle–based newborn screening for severe combined immunodeficiency in Southeast and East Asia. Front Immunol. 2025;16:1549768. doi:10.3389/fimmu.2025.1549768

Cooper K, Dudding T, Gration D, et al. Systematic review of newborn screening programmes for spinal muscular atrophy. Int J Neonatal Screen. 2024;10(3):49. doi:10.3390/ijns10030049

Wong KN, Cook S, Hart K, et al. A Five-Year Review of Newborn Screening for Spinal Muscular Atrophy in the State of Utah: Lessons Learned. Int J Neonatal Screen. 2024;10(3):54. doi:10.3390/ijns10030054

Lin H-C, Lee N-C, Weng W-C, et al. Newborn screening facilitates early treatment and improved outcomes for spinal muscular atrophy: five-year real-world evidence from Taiwan. Orphanet J Rare Dis. 2025;20:197. doi:10.1186/s13023-025-03697-1

McGarry ME, Raraigh KS, Farrell P, et al. Cystic Fibrosis Newborn Screening: A Systematic Review–Driven Consensus Guideline from the United States Cystic Fibrosis Foundation. Int J Neonatal Screen. 2025;11(2):24. doi:10.3390/ijns11020024

Arrigoni M, Nucci N, Moleti M, et al. Newborn screening for congenital hypothyroidism: worldwide implementation, methods and coverage. Eur Thyroid J. 2025;14(1):1–14. doi:10.1530/ETJ-24-0327

Shen G, Li T, Chen X, et al. Newborn screening in the era of next-generation sequencing: history, recent advances, and future perspectives. Curr Opin Genet Dev. 2024;85:102111. doi:10.1016/j.gde.2024.102111

Shah N, Lewis R, Kingsmore SF, et al. Genomic sequencing for newborn screening. Mol Genet Genomic Med. 2024;12(6):e2331. doi:10.1002/mgg3.2331

Chan K, Goldberg JD, Brower AM, et al. NBSTRN tools to advance newborn screening research and translation. Int J Neonatal Screen. 2023;9(3):58. doi:10.3390/ijns9030058

Loeber JG, Platis D, Zetterström RH, et al. Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010. Int J Neonatal Screen. 2021;7(1):15. doi:10.3390/ijns7010015

Republic of Uzbekistan. Presidential Decree PP-3440 (Dec 25, 2017): State program for early detection of congenital and hereditary diseases (includes neonatal screening for CH and PKU). Available at: https://lex.uz/docs/3471753

Republic of Uzbekistan. Presidential Resolution PQ-296 (Sep 8, 2023): On measures to protect maternal and child health and strengthen reproductive health (includes provision of cystic fibrosis screening kits 2024–2028). Available at: https://www.lex.uz/uz/docs/-6598641

Republican Center for Mother and Child Screening (Uzbekistan). Neonatal screening information page. Available at: https://med.uz/medgen/

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Akhmedova Diloram Ilkhamovna, Khadjimukhamedova Shokhina Bakhodirovna, & Artikova Magina Akmalovna. (2025). Expanded Newborn Screening for Inborn Errors of Metabolism: Perspectives for Uzbekistan. The American Journal of Medical Sciences and Pharmaceutical Research, 7(8), 65–68. https://doi.org/10.37547/tajmspr/Volume07Issue08-10