Хромосомные аномалии. Роль цитогенетического исследования на этапе пренатальной диагностики

DOI: https://doi.org/10.29296/25877305-2019-11-02
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Номер журнала: 
11
Год издания: 
2019

В. Морозова(1), кандидат химических наук, А. Асеева(1), кандидат медицинских наук, Е. Домрачева(1), доктор медицинских наук, профессор, О. Гизингер(1, 2), доктор биологических наук, профессор, Т. Силкина(1) 1-ООО «Лаборатория “Гемотест”», Москва 2-Российский университет дружбы народов, Москва E-mail: OGizinger@gmail.com

Хромосомные аномалии, связанные с изменением числа и структуры хромосом в кариотипе человека, чрезвычайно разнообразны. Трудности пренатальной диагностики заключаются в том, что очень многие наследственные аномалии передаются детям от фенотипически совершенно нормальных родителей – носителей той или иной хромосомной аномалии. Описаны виды хромосомных аномалий, которые приводят к бесплодию, невынашиванию беременности и рождению детей с пороками развития. Возможности современной лаборатории позволяют определить степень и глубину поражения, оценить прогноз рождения здорового ребенка, опасность данной патологии и дать шанс паре иметь здорового ребенка с помощью предимплантационного генетического скрининга и выбора здоровых эмбрионов для имплантации при проведении процедуры экстракорпорального оплодотворения.
Ключевые слова: 
генетика
хромосомные аномалии
цитогенетическое исследование
анализ кариотипа
невынашивание беременности
Для цитирования
Морозова В., Асеева А., Домрачева Е., Гизингер О., Силкина Т. Хромосомные аномалии. Роль цитогенетического исследования на этапе пренатальной диагностики . Врач, 2019; (11): 9-15 https://doi.org/10.29296/25877305-2019-11-02

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