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Медицинская генетика

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Неинвазивные пренатальные тесты: европейские и американские рекомендации по применению в клинической практике

Аннотация

В обзоре проведен анализ рекомендаций Американского колледжа медицинской генетики и геномики (ACMG) и Европейского и Американского обществ генетики человека по неинвазивному пренатальному тестированию (НИПТ). Сделана попытка оценить НИПТ на хромосомную патологию плода с технологической точки зрения. Обсуждены перспективы расширения областей применения НИПТ в пренатальной диагностике микроделеционных синдромов и моногенной патологии и сопутствующие этические проблемы.

Об авторах

Е. Е. Баранова
ФГБОУ ДПО РМАНПО Минздрава России
Россия


М. С. Беленикин
ФГБОУ ВПО «Московский физико-технический институт (государственный университет)»
Россия


Л. А. Жученко
ФГБОУ ДПО РМАНПО Минздрава России
Россия


В. Л. Ижевская
ФГБНУ «Медико-генетический научный центр»
Россия


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Рецензия

Для цитирования:


Баранова Е.Е., Беленикин М.С., Жученко Л.А., Ижевская В.Л. Неинвазивные пренатальные тесты: европейские и американские рекомендации по применению в клинической практике. Медицинская генетика. 2017;16(8):3-10.

For citation:


Baranova E.E., Belenikin M.S., Zhuchenko L.A., Izhevskaya V.L. Non-invasive prenatal tests: european and american recomendations. Medical Genetics. 2017;16(8):3-10. (In Russ.)

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ISSN 2073-7998 (Print)