ppharmПедиатрическая фармакологияPediatric pharmacology1727-57762500-3089Издательство «ПедиатрЪ»10.15690/pf.v22i4.2942ppharm-2673Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWОбзор международных программ неонатального скринингаOverview of International Neonatal Screening Programshttps://orcid.org/0000-0002-9918-9565ВоронинС. В.VoroninSergey V.

Воронин Сергей Владимирович, к.м.н. 

Москва 

MD, PhD 

Moscow 

voroninsvvlad@mail.ruhttps://orcid.org/0000-0003-1581-0703ОмельяновскийВ. В.OmelyanovskiyVitaly V.

Омельяновский Виталий Владимирович, д.м.н., профессор 

Москва 

MD, PhD, Professor 

Moscow 

office@rosmedex.ruhttps://orcid.org/0000-0001-7261-3461МухортоваП. А.MukhortovaPolina A.

Мухортова Полина Алексеевна, главный специалист отдела методологического обеспечения проведения комплексной оценки технологий в здравоохранении

109028, Москва, Покровский бульвар, д. 6/20, стр. 2, тел. раб.: +7 (495) 783-19-05, доб. 153, тел. моб.: +7 (915) 120-60-81 

Polina A. Mukhortova 

6/20, Pokrovsky Boulevard, building 2, Moscow, 109028, +7 (495) 783-19-05, доб. 153 

muhortova@rosmedex.ruhttps://orcid.org/0009-0001-7817-5180СлабиковаА. А.SlabikovaA. A.

Слабикова Александра Алексеевна  

Москва 

Moscow 

slabikova@rosmedex.ruМедико-генетический научный центр им. акад. Н.П. БочковаРоссияResearch Centre for Medical GeneticsRussian FederationЦентр экспертизы и контроля качества медицинской помощи ; Российская медицинская академия непрерывного профессионального образованияРоссияCenter for Healthcare Quality Assessment and Control ; Russian Medical Academy of Continuous Professional EducationRussian FederationЦентр экспертизы и контроля качества медицинской помощиРоссияCenter for Healthcare Quality Assessment and ControlRussian Federation202506102025224395405Copyright © Воронин С.В., Омельяновский В.В., Мухортова П.А., Слабикова А.А., 20252025Воронин С.В., Омельяновский В.В., Мухортова П.А., Слабикова А.А.Voronin S.V., Omelyanovskiy V.V., Mukhortova P.A., Slabikova A.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.pedpharma.ru/jour/article/view/2673

Неонатальный скрининг (НС) является важным методом раннего обнаружения наследственных заболеваний, позволяющим снизить риск развития тяжелых осложнений и повысить качество жизни пациентов. В Российской Федерации с 2023 г. введен расширенный НС, охватывающий 36 заболеваний, включая наследственные болезни обмена, спинальную мышечную атрофию и первичные иммунодефициты. В данной работе представлен сравнительный анализ российской программы НС и программ НС в странах Евразийского экономического союза и 11 странах — членах Организации экономического сотрудничества и развития в отношении включенных в них заболеваний, выявлены ключевые тенденции диагностики наследственных заболеваний в мировой практике, а также направления для совершенствования программы.

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.

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The authors declare that there are no conflicts of interest present.