nogrЭкспериментальная и клиническая гастроэнтерологияExperimental and Clinical Gastroenterology1682-8658«Global Media Technologies»10.31146/1682-8658-ecg-204-8-150-159nogr-2141Research ArticleОБЗОРREVIEWМеждународный опыт первичной профилактики муковисцидоза (часть первая)International experience in the primary prevention of cystic fibrosis (part one)https://orcid.org/0000-0003-0503-6371КаширскаяН. Ю.KashirskayaN. Yu.noemail@neicon.ruhttps://orcid.org/0000-0001-5933-6594ПетроваН. В.PetrovaN. V.noemail@neicon.ruhttps://orcid.org/0000-0002-2293-3739ГембицкаяТ. Е.GembitskayaT. E.noemail@neicon.ruИващенкоТ. Э.IvashchenkoT. E.noemail@neicon.ruhttps://orcid.org/0000-0001-7308-7280ХавкинА. И.KhavkinA. I.gastropedclin@gmail.comНестерукО. Н.NesterukO. N.noemail@neicon.ruГинтерЕ. К.GinterE. K.noemail@neicon.ruhttps://orcid.org/0000-0002-3133-8018КуцевС. И.KutsevS. I.noemail@neicon.ruhttps://orcid.org/0000-0003-3586-3458ЗинченкоР. А.ZinchenkoR. A.noemail@neicon.ruФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н. П. Бочкова»; Московский областной научно-исследовательский клинический институт (МОНИКИ) им. М. Ф. ВладимирскогоРоссияResearch Centre for Medical Genetics; Moscow Regional Research and Clinical Institute (“MONIKI”)Russian FederationФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н. П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian FederationФедеральное государственное бюджетное образовательное учреждение высшего образования «Первый Санкт-Петербургский Государственный Медицинский университет им. акад. И. П. Павлова» Министерства здравоохранения Российской ФедерацииРоссияI. P. Pavlov First Federal Saint - Petersburg State Medical University, Healthcare Ministry of RussiaRussian FederationНаучно-исследовательский институт Акушерства, гинекологии и репродуктологии имени Д. О. ОттаРоссияD. O. Ott Research Institute of Obstetrics, Gynecology and ReproductologyRussian FederationГБУЗ МО «Научно-исследовательский клинический институт детства Министерства здравоохранения Московской области»РоссияResearch Clinical Institute of Childhood of the Moscow RegionRussian FederationБлаготворительный фонд «Острова»Россия“Ostrova” Charitable FoundationRussian FederationФедеральное государственное бюджетное научное учреждение «Медико-генетический научный центр имени академика Н. П. Бочкова»; Федеральное государственное бюджетное научное учреждение «Национальный научно-исследовательский институт общественного здоровья имени Н. А. Семашко»РоссияResearch Centre for Medical Genetics; N. A. Semashko National Research Institute of Public HealthRussian Federation20221801202308150159Copyright © Каширская Н.Ю., Петрова Н.В., Гембицкая Т.Е., Иващенко Т.Э., Хавкин А.И., Нестерук О.Н., Гинтер Е.К., Куцев С.И., Зинченко Р.А., 20232023Каширская Н.Ю., Петрова Н.В., Гембицкая Т.Е., Иващенко Т.Э., Хавкин А.И., Нестерук О.Н., Гинтер Е.К., Куцев С.И., Зинченко Р.А.Kashirskaya N.Y., Petrova N.V., Gembitskaya T.E., Ivashchenko T.E., Khavkin A.I., Nesteruk O.N., Ginter E.K., Kutsev S.I., Zinchenko R.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.nogr.org/jour/article/view/2141

Преконцепционный генетический скрининг (генетическое исследование лиц на этапах планирования семьи и рождения здорового ребёнка) занимает важное место в профилактике наследственных заболеваний. Обзор посвящен первичной профилактике муковисцидоза (МВ), одного из самых частых наследственных заболеваний европеоидной расы. В первой части освещены общие принципы скрининга на наследтвенные заболевания, вкючая МВ, вопросы преимущества и недостатков панэтнического скрининга носительства МВ, экономические обоснования программы, на примере международных исследований и рекомендаций, по данным зарубежных источников.

Preconceptional genetic screening (genetic testing of individuals at the stages of family planning and birth of a healthy child) has an important place in the prevention of hereditary diseases. This review focuses on the preconceptional prevention of cystic fibrosis (CF), one of the most common hereditary diseases of the Caucasian race. The first part highlights the general principles of screening for hereditary diseases, including CF, the advantages and disadvantages of pan-ethnic screening for CF, and the economic rationale for the programme, using international studies and guidelines, as illustrated by international sources.

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