medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2023.11.3-12medgen-2367Research ArticleНАУЧНЫЙ ОБЗОРREVIEWЭтические аспекты применения полногеномного неинвазивного пренатального тестированияEthical aspects of whole-genome noninvasive prenatal testingПотаповА. А.PotapovA. A.

115162, г. Москва, ул. Лестева, д. 18, эт/пом/ком 2/III/3

18, floor 2, room III, Lesteva st., 3115162, Moscow

potapov@evogenlab.ruКаплановаМ. Т.KaplanovaM. T.

115162, г. Москва, ул. Лестева, д. 18, эт/пом/ком 2/III/3

18, floor 2, room III, Lesteva st., 3115162, Moscow

ГалактионоваА. М.GalaktionovaA. M.

115162, г. Москва, ул. Лестева, д. 18, эт/пом/ком 2/III/3

18, floor 2, room III, Lesteva st., 3115162, Moscow

БарановаЕ. Е.BaranovaE. E.

115162, г. Москва, ул. Лестева, д. 18, эт/пом/ком 2/III/3

125993, г. Москва, ул. Баррикадная, д.2/1, стр.1

18, floor 2, room III, Lesteva st., 3115162, Moscow

2/1 Barrikadnaya st., Moscow, 125993

СагайдакО. В.SagaydakO. V.

115162, г. Москва, ул. Лестева, д. 18, эт/пом/ком 2/III/3

18, floor 2, room III, Lesteva st., 3115162, Moscow

ИжевскаяВ. Л.IzhevskayaV. L.

115522, г. Москва, ул. Москворечье, д. 1

1, Moskvorechie st., Moscow, 115478

ДенисовА. Г.DenisovA. G.

629008, г. Салехард, Ямало-Ненецкий автономный округ, ул. Республики, д. 72

629001, г. Салехард, ул. Мира, д. 39

72, Respubliki st., Salekhard, 629008

39, Mira st., Salekhard, 629001

Общество с ограниченной ответственностью «Эвоген»РоссияLLC «Evogen»Russian FederationОбщество с ограниченной ответственностью «Эвоген»; ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Министерства здравоохранения Российской ФедерацииРоссияLLC «Evogen»; Russian Medical Academy of Continuous Professional EducationRussian FederationФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияN.P. Bochkov Research Centre for Medical GeneticsRussian FederationДепартамент здравоохранения Ямало-Ненецкого автономного округа; ГБУЗ «Салехардская окружная клиническая больница»РоссияDepartment of Health of the Yamalo-Nenets Autonomous Okrug; Salekhard District Clinical HospitalRussian Federation2023081220232211312Copyright © Потапов А.А., Капланова М.Т., Галактионова А.М., Баранова Е.Е., Сагайдак О.В., Ижевская В.Л., Денисов А.Г., 20232023Потапов А.А., Капланова М.Т., Галактионова А.М., Баранова Е.Е., Сагайдак О.В., Ижевская В.Л., Денисов А.Г.Potapov A.A., Kaplanova M.T., Galaktionova A.M., Baranova E.E., Sagaydak O.V., Izhevskaya V.L., Denisov A.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/2367

Неинвазивный пренатальный тест (НИПТ) – современный молекулярно-генетический метод, применяемый для скрининга хромосомной патологии у плода путем выделения и секвенирования свободно циркулирующих фрагментов ДНК плода и плаценты в крови матери (внеклеточная фетоплацентарная ДНК). НИПТ стал активно применяться в клинической практике сравнительно недавно – с начала прошлого десятилетия, в связи с чем нет единого мнения и решений этических вопросов, связанных с тестированием. Селекция пола, формирование спектра выявляемых рисков, медико-генетическое консультирование, дискриминация детей с хромосомными аномалиями и их родителей, «рутинизация» метода – основные этические проблемы, с которыми сталкиваются врачи различных специальностей и пациенты. Влияние результата НИПТ на репродуктивный выбор семейных пар сложно недооценить, поэтому применение теста в системе пренатального скрининга требует особого внимания, консультирования и участия специалистов разных областей медицины и не только.

Non-invasive prenatal testing (NIPT) is a molecular genetic method of assessing the risks of fetal chromosomal abnormalities from cell-free fetal DNA by isolating and sequencing cell-free fetal and placental DNA fragments in maternal blood (cell-free fetoplacental DNA). NIPT has been in use for the past decade, so as a consequence, there is still no consensus or solution regarding the ethical issues surrounding the testing. Gender selection, the range of risks assessed, genetic counseling, discrimination against children with chromosomal abnormalities and their parents, and the «routinization» of the method are the main ethical problems physicians of different specialties and patients face. The impact of NIPT results on the reproductive choices of couples is hard to underestimate, so the involvement of various medical and other specialists in the system of prenatal screening requires particular consultative attention and assistance. Keywords: non-invasive prenatal testing, bioethics, prenatal diagnosis, prenatal screening, chromosomal abnormality.

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