vestommВестник охраны материнства и младенчестваBulletin of maternal and child care3034-395XФГБУ «НИИ ОММ» Минздрава России10.69964/BMCC-2024-1-1-48-55vestomm-8Research ArticleОБЗОРЫREVIEWSСовременные аспекты преимплантационного генетического тестирования эмбрионов в программах вспомогательных репродуктивных технологий (обзор литературы)Modern aspects of preimplantation genetic testing of embryos in assisted reproductive technology programs (literature review)https://orcid.org/0000-0001-5746-316XБашмаковаН. В.BashmakovaN. V.

Башмакова Надежда Васильевна — доктор медицинских наук, профессор, Заслуженный врач Российской Федерации, Главный акушер-гинеколог Уральского федерального округа, заведующая отделением вспомогательных репродуктивных технологий, главный научный сотрудник, ФГБУ «Уральский НИИ ОММ» МЗ РФ.

ул. Репина, д. 1, Екатеринбург, 620028

Телефон: (343) 371-87-68

Nadezda V. Bashmakova — MD, Professor, Honored Doctor of the Russian Federation, Head of department of ART, Chief obstetrician-gynecologist of the Ural Federal District, Chief Researcher of Federal State Budgetary Institution “Ural Research Institute of Maternity and Child Care” of the Ministry of Health of the Russian Federation.

Repina st., 1, Ekaterinburg, 620028

Phone: (343) 371-87-68

BasmakovaNV@niiomm.ruhttps://orcid.org/0000-0002-4304-3516ХрамцоваА. Ю.KhramtsovaA. Yu.

Храмцова Александра Юрьевна — врач акушер-гинеколог, старший научный сотрудник, отделение вспомогательных репродуктивных технологий.

ул. Репина, д. 1, Екатеринбург, 620028

Телефон: (343) 232-55-12, +79126826726

Scopus Author ID 57214320389

Alexandra Yu. Khramtsova — obstetrician-gynecologist, researcher, department of ART, Federal State Budgetary Institution “Ural Research Institute of Maternity and Child Care” of the Ministry of Health of the Russian Federation.

Repina st., 1, Ekaterinburg, 620028

Phone: (343) 232-55-12, +79126826726

Scopus Author ID 57214320389

aleksaxr@mail.ruhttps://orcid.org/0000-0002-1410-6709ДанишевскаяА. А.DanishevskayaA. A.

Данишевская Анна Андреевна — ординатор второго года обучения по специальности «Акушерство и гинекология».

ул. Репина, д. 1, Екатеринбург, 620028

Телефон: (343) 232-55-12, +79826411025

Anna A. Danishevskaya — resident of the specialty “Obstetrics and Gynecology” of the Federal State Budgetary Institution “Ural Research Institute of Maternity and Child Care” of the Ministry of Health of the Russian Federation.

Repina st., 1, Ekaterinburg, 620028

Phone: (343) 232-55-12, +79826411025

danishevskayaa33@gmail.comФедеральное 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 Federation202425092024114855Copyright © Башмакова Н.В., Храмцова А.Ю., Данишевская А.А., 20242024Башмакова Н.В., Храмцова А.Ю., Данишевская А.А.Bashmakova N.V., Khramtsova A.Y., Danishevskaya A.A.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.vestnikomm.ru/jour/article/view/8Введение

Введение. Успех вспомогательных репродуктивных технологий зависит от множества факторов, основные из них это качество и генетический статус эмбриона, рецептивность эндометрия. Преимплантационное генетическое тестирование является инструментом, который преследует цель снижения риска выбора анеуплоидного эмбриона для переноса. Споры вокруг применения преимплантационного генетического тестирования ведутся в контексте возрастных пациенток, с привычным невынашиванием, с генетическими аномалиями кариотипа в супружеской паре, а также множественных неудачных попыток ВРТ в анамнезе.

Цель исследования

Цель исследования. Обобщить и проанализировать имеющиеся данные о современных тенденциях применения преимплантационного генетического тестирования (ПГТ-А).

Материалы и методы

Материалы и методы. В обзор включены опубликованные данные за последние 10 лет касательно эффективности программ ВРТ и исходов беременностей после применения преимплантационного генетического тестирования. Поиск литературы проводился в базах данных Medline, Scopus, Web of Science, Google Scholar, PubMed, Wiley и Cochrane Library.

Результаты

Результаты. По мнению большинства авторов, преимплантационное генетическое тестирование не улучшает показатели живорождения на пациента в общей популяции, однако улучшает показатели живорождения при проведении ПГТ-А на эмбрионах в стадии бластоцисты у женщин старше 35 лет, а также у женщин с потерями беременности в анамнезе для снижения риска невынашивания последующей беременности.

Заключение

Заключение. Преимплантационное генетическое тестирование является методом оценки эуплоидии и мозаицизма эмбриона перед переносом. Целесообразность применения ПГТ-А в большей степени связана с состояниями, при которых может увеличиться риск анеуплоидий эмбрионов, и оправдана у пациенток высокого риска, в то время как использование этой методики у пациенток с хорошим прогнозом до сих пор остается под вопросом. Биопсия трофэктодермы может не отражать плоидность внутренней клеточной массы. Так же нельзя быть уверенным, что линия эмбриональных клеток не будет самокорректироваться. Другими словами, после получения заключения, предполагающего мозаицизм или анеуплоидию, высока вероятность ложноположительного диагноза.

Background

Background. The success of assisted reproductive technologies depends on many factors, the main ones being the quality and genetic status of the embryo and endometrial receptivity. Preimplantation genetic testing is a tool that aims to reduce the risk of selecting an aneuploid embryo for transfer. Disputes surrounding the use of preimplantation genetic testing are conducted in the context of older patients, with recurrent miscarriage, with genetic karyotype abnormalities in a married couple, as well as multiple unsuccessful attempts at ART in the anamnesis.

Purpose of review

Purpose of review. To summarize and analyze the available data on current trends in the use of preimplantation genetic testing (PGT-A).

Materials and methods

Materials and methods. The review includes published data over the past 10 years regarding the effectiveness of ART programs and pregnancy outcomes after the use of preimplantation genetic testing. The literature search was conducted in Medline, Scopus, Web of Science, Google Scholar, PubMed, Wiley and Cochrane Library databases.

Results

Results. According to most authors, preimplantation genetic testing does not improve live birth rates per patient in the general population, but it does improve live birth rates when performing PGT-A on blastocyst-stage embryos in women over 35 years of age, as well as in women with a history of pregnancy loss to reduce risk miscarriage of a subsequent pregnancy.

Conclusion

Conclusion. Preimplantation genetic testing is a valid method for assessing euploidy and mosaicism of an embryo before transfer. The feasibility of use, according to research results, is more related to conditions in which the risk of embryonic aneuploidy may increase, and is justified in high-risk patients, while the use of this technique in patients with a good prognosis is still questionable. First, trophectoderm biopsies may not reflect the ploidy of the inner cell mass. Secondly, even if we assume that this is the case, we cannot be sure that the embryonic cell line will not self-correct. In other words, once a diagnosis of PGT-A is received suggesting mosaicism or aneuploidy, the likelihood of a false-positive diagnosis is high.

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