medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2023.12.20-32medgen-2384Research ArticleНАУЧНЫЙ ОБЗОРREVIEWСовременные молекулярно-генетические методы и подходы, применяемые в преконцепционном генетическом скринингеModern molecular genetic methods and approaches used in the preconception carrier screeningНасыховаЮ. А.NasykhovaYu. A.

199034, г. Санкт-Петербург, Менделеевская линия, д.3

3, Mendeleevskaya line, Saint Petersburg, 199034

КарповичЛ. А.KarpovichL. A.

199034, г. Санкт-Петербург, Менделеевская линия, д.3

3, Mendeleevskaya line, Saint Petersburg, 199034

ДвойноваН. М.DvoynovaN. M.

199034, г. Санкт-Петербург, Менделеевская линия, д.3

3, Mendeleevskaya line, Saint Petersburg, 199034

ОсиновскаяН. С.OsinovskayaN. S.

199034, г. Санкт-Петербург, Менделеевская линия, д.3

3, Mendeleevskaya line, Saint Petersburg, 199034

ГлотовА. С.GlotovA. S.

199034, г. Санкт-Петербург, Менделеевская линия, д.3

3, Mendeleevskaya line, Saint Petersburg, 199034

ФГБНУ «Институт акушерства, гинекологии и репродуктологии им. Д.О. Отта»РоссияD.O. Ott Research Institute of Obstetrics, Gynecology and ReproductologyRussian Federation20232312202322122032Copyright © Насыхова Ю.А., Карпович Л.А., Двойнова Н.М., Осиновская Н.С., Глотов А.С., 20232023Насыхова Ю.А., Карпович Л.А., Двойнова Н.М., Осиновская Н.С., Глотов А.С.Nasykhova Y.A., Karpovich L.A., Dvoynova N.M., Osinovskaya N.S., Glotov A.S.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/2384

Преконцепционный скрининг (ПС) – это комплекс мероприятий, направленных на установление групп высокого риска и профилактику рождения детей с генетическими заболеваниями в этих группах. В рамках программ преконцепционного генетического скрининга выполняется исследование образцов биоматериала будущих родителей, которое обычно включает цитогенетическое исследование для исключения нарушений числа и структуры хромосом, а также анализ скрытого носительства моногенных болезней с аутосомно-рецессивным или X-сцепленным типами наследования. ПС является важнейшим инструментом оценки риска наследственной патологии в семьях на этапе планирования беременности и позволяет повысить информированность потенциальных родителей о наследственных факторах, связанных с беременностью, а также вовремя сформировать тактику планирования и ведения беременности для предотвращения рождения больного ребенка. В данной статье рассматриваются стратегии, подходы и методы исследования, которые в настоящее время используются при выполнении преконцепционного генетического скрининга носительства, а также обсуждаются результаты внедрения программ ПС в мире. 

Preconception carrier screening (PS) is a set of measures aimed at preventing the birth of children with genetic diseases and identifying high-risk groups. As part of preconception genetic screening programs, studies of biomaterial samples of future parents are carried out, which usually includes a cytogenetic study to exclude chromosome abnormalities, as well as analysis of the heterozygous carriage of monogenic autosomal recessive or X-linked diseases. PS is the most important tool for assessing the risk of hereditary pathology in families at the stage of pregnancy planning, which allows potential parents to increase awareness of hereditary factors associated with pregnancy, as well as to formulate timely strategy for planning and managing pregnancy to prevent the birth of a sick child. The article reviews the strategies, approaches, and methods that are currently used in preconception genetic screening, and discusses the impact of the carrier screening programs in the world.

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