vestommВестник охраны материнства и младенчестваBulletin of maternal and child care3034-395XФГБУ «НИИ ОММ» Минздрава России10.69964/BMCC-2026-3-2-42-52vestomm-108Research ArticleОБЗОРЫREVIEWSМозаицизм эмбрионов в программах экстракорпорального оплодотворения: от диагностической дилеммы к клиническому решению (обзор литературы)Embryo mosaicism in in vitro fertilization programs: from diagnostic dilemma to clinical decision (literature review)https://orcid.org/0000-0003-2797-1926КудрявцеваЕ. В.KudryavtsevaE. V.

Кудрявцева Елена Владимировна — доктор медицинских наук, доцент, ведущий научный сотрудник отделения сохранения репродуктивной функции

ул. Репина, д. 1, г. Екатеринбург, 620028 

Тел.: +7 (922) 616-40-12 

Elena V. Kudryavtseva — Doctor of Medical Sciences, Associate Professor, Leading investigator of the Department of Reproductive Function Preservation 

st. Repina, 1, Ekaterinburg, 620028 

elenavladpopova@yandex.ruhttps://orcid.org/0009-0003-1143-7355КвашнинаЕ. В.KvashninaE. V.

Квашнина Елена Владимировна — кандидат медицинских наук, врач высшей категории, заместитель директора по медицинской части, главный внештатный специалист по репродуктивному здоровью Министерства здравоохранения Свердловской области

ул. Белинского, д. 61, г. Екатеринбург, 620075 

Elena V. Kvashnina — Candidate of Medical Sciences, doctor of the highest category, deputy director for medical affairs, chief freelance specialist in reproductive health of the Ministry of Health of the Sverdlovsk Region

Belinsky Str., 61, Ekaterinburg, 620075 

doctor.kvashnina@gmail.comhttps://orcid.org/0009-0006-0058-1820ЛихачеваН. Ю.LikhachevaN. Yu.

Лихачева Наталья Юрьевна — очный аспирант, младший научный сотрудник, заведующий отделением вспомогательных репродуктивных технологий

ул. Репина, д. 1, г. Екатеринбург, 620028 

Natalia Yu. Likhacheva — full–time postgraduate student, junior Researcher, Head of the Department of Assisted Reproductive Technologies

st. Repina, 1, Ekaterinburg, 620028 

natalybragina91@mail.ruФедеральное государственное бюджетное учреждение «Уральский научно-исследовательский институт охраны материнства и младенчества» Министерства здравоохранения Российской ФедерацииРоссияFederal State Budgetary Institution “Ural Research Institute of Maternity and Child Care” of the Ministry of Health of the Russian FederationRussian FederationКлиника АО ЦРНРФ ПартусРоссияClinic “ECO Center Partus”Russian Federation202630072026324252Copyright © Кудрявцева Е.В., Квашнина Е.В., Лихачева Н.Ю., 20262026Кудрявцева Е.В., Квашнина Е.В., Лихачева Н.Ю.Kudryavtseva E.V., Kvashnina E.V., Likhacheva N.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.vestnikomm.ru/jour/article/view/108

Введение. Внедрение преимплантационного генетического тестирования на анеуплоидии (ПГТ-А) в программы экстракорпорального оплодотворения (ЭКО) позволило повысить эффективность лечения бесплодия. Однако с появлением технологий секвенирования следующего поколения (NGS) клиницисты столкнулись с такой проблемой, как хромосомный мозаицизм эмбрионов. Вопрос о возможности их использования остается дискуссионным и требует анализа накопленных литературных данных.Цель обзора. На основании анализа современных литературных данных представить актуальную информацию о биологии хромосомного мозаицизма эмбрионов, клинических исходах переноса мозаичных эмбрионов в программах ЭКО и практических алгоритмах ведения данной категории пациенток.Материалы и методы. Проведен систематический поиск научных публикаций за период с 2015 по 2026 гг. В обзор включены оригинальные исследования, систематические обзоры, мета-анализы и рекомендации профессиональных сообществ, посвященные хромосомному мозаицизму эмбрионов.Результаты. Частота выявления мозаицизма при ПГТ-А составляет в среднем 15–25% и зависит от чувствительности метода диагностики, возраста пациентки и протоколов анализа. Согласно современным данным, МЭ с низким уровнем мозаицизма (менее 50%) демонстрируют частоту живорождения, сопоставимую с эуплоидными эмбрионами (ЭЭ). Морфологическое качество эмбриона является более сильным предиктором успеха переноса, чем статус мозаицизма. Перенос МЭ ассоциирован с более высоким риском невынашивания беременности, однако в подавляющем большинстве случаев при прогрессирующей беременности кариотип плода оказывается нормальным.Заключение. МЭ обладают реальным репродуктивным потенциалом. При отсутствии ЭЭ, перенос МЭ является клинически оправданной стратегией, особенно для пациенток старшей возрастной группы. Обязательным условием является информированное согласие пациентов и проведение инвазивной пренатальной диагностики при наступлении беременности для верификации кариотипа плода.

Introduction. The introduction of preimplantation genetic testing for aneuploidies (PGT-A) into in vitro fertilization (IVF) programs has improved the effectiveness of infertility treatment. However, with the advent of next-generation sequencing (NGS) technologies, clinicians are faced with the problem of embryo chromosomal mosaicism. The feasibility of their use remains controversial and requires an analysis of the accumulated literature.Objective. Based on an analysis of current literature, this paper presents up-to-date information on the biology of embryo chromosomal mosaicism, the clinical outcomes of mosaic embryo transfer in IVF programs, and practical algorithms for managing this category of patients.Materials and Methods. A systematic search of scientific publications for the period from 2015 to 2026 was conducted. The review includes original studies, systematic reviews, meta-analyses, and recommendations from professional societies dedicated to embryo chromosomal mosaicism.Results. The detection rate of mosaicism in PGT-A averages 15–25% and depends on the sensitivity of the diagnostic method, the patient’s age, and the testing protocols. According to current data, low-mosaicity MEs (less than 50%) demonstrate live birth rates comparable to euploid embryos (EEs). Embryo morphological quality is a stronger predictor of transfer success than mosaicism status. ME transfer is associated with a higher risk of miscarriage; however, in the vast majority of cases with ongoing pregnancy, the fetal karyotype is normal.Conclusion. MEs have real reproductive potential. In the absence of EE, ME transfer is a clinically justified strategy, especially for older patients. Informed patient consent and invasive prenatal testing upon pregnancy to verify the fetal karyotype are mandatory.

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