Overview of International Neonatal Screening Programs
https://doi.org/10.15690/pf.v22i4.2942
Abstract
Neonatal screening (NS) is significant method for early detection of hereditary diseases that reduces the risk of severe complications and improves patients’ quality of life. Enhanced neonatal screening covering 36 diseases has been implemented in Russian Federation since 2023. It includes hereditary metabolic diseases, spinal muscular atrophy, and primary immunodeficiencies. This study presents comparative analysis of NS programs in Russian Federation and in countries of the Eurasian Economic Union and 11 member countries of the Organization for Economic Cooperation and Development. Key trends in the diagnosis of included hereditary diseases in world practice, as well as directions for further programs improvement are identified.
About the Authors
Sergey V. Voronin
Research Centre for Medical Genetics
Russian Federation
Disclosure of interest:
Russian Federation
MD, PhD
Moscow
Disclosure of interest:
Not specified.
Vitaly V. Omelyanovskiy
Center for Healthcare Quality Assessment and Control ; Russian Medical Academy of Continuous Professional Education
Russian Federation
Disclosure of interest:
Russian Federation
MD, PhD, Professor
Moscow
Disclosure of interest:
Not specified.
Polina A. Mukhortova
Center for Healthcare Quality Assessment and Control
Russian Federation
Disclosure of interest:
Russian Federation
Polina A. Mukhortova
6/20, Pokrovsky Boulevard, building 2, Moscow, 109028, +7 (495) 783-19-05, доб. 153
Disclosure of interest:
Not specified.
A. A. Slabikova
Center for Healthcare Quality Assessment and Control ; Russian Medical Academy of Continuous Professional Education
Russian Federation
Disclosure of interest:
Russian Federation
Moscow
Disclosure of interest:
Not specified.
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Review
For citations:
Voronin S.V., Omelyanovskiy V.V., Mukhortova P.A., Slabikova A.A. Overview of International Neonatal Screening Programs. Pediatric pharmacology. 2025;22(4):395-405. (In Russ.) https://doi.org/10.15690/pf.v22i4.2942
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