medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2023.07.11-20medgen-2324Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL RESEARCHРоль метода КФ-ПЦР в детекции частых анеуплоидийThe role of the QF-PCR method in the detection of frequent aneuploidiesБескоровайнаяТ. С.BeskorovainayaT. S.

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

1, Moskvorechye st., Moscow, 115522

t-kovalevskaya@yandex.ruЧухроваА. Л.ChukhrovaA. L.

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

1, Moskvorechye st., Moscow, 115522

ЧерныхВ. Б.ChernykhV. B.

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

1, Moskvorechye st., Moscow, 115522

ЩагинаО. А.ShchaginaO. A.

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

1, Moskvorechye st., Moscow, 115522

ПоляковА. В.PolyakovA. V.

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

1, Moskvorechye st., Moscow, 115522

ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияN.P. Bochkov Research Centre for Medical GeneticsRussian Federation2023161020232271120Copyright © Бескоровайная Т.С., Чухрова А.Л., Черных В.Б., Щагина О.А., Поляков А.В., 20232023Бескоровайная Т.С., Чухрова А.Л., Черных В.Б., Щагина О.А., Поляков А.В.Beskorovainaya T.S., Chukhrova A.L., Chernykh V.B., Shchagina O.A., Polyakov A.V.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/2324

Анеуплоидия – это изменение числа гомологичных хромосом в диплоидном наборе в клетке.  Наиболее распространенными анеуплоидиями, совместимыми с живорождением, являются анеуплоидии по хромосомам 13, 18, 21, X и Y. В настоящее время для диагностики частых анеуплоидий возможно использование быстрого, надежного и недорогого метода количественной флуоресцентной полимеразной цепной реакции (КФ-ПЦР). В результате исследования данным методом 1192 пренатальных и 195 постнатальных образцов в 15% случаев были выявлены различные хромосомные аномалии. Наиболее часто детектируемой анеуплоидией являлась трисомия по хромосоме 21 – 9,7%. Доля трисомии по хромосоме 18 составила 2,0%, трисомии по хромосоме 13 – 0,3%. Из аномалий половых хромосом обнаружены синдром Клайнфельтера в 1,1% и синдром Шерешевского-Тернера в 0,8% случаев. Отмечено уменьшение доли анеуплоидий, сопровождающихся тяжелыми врожденными пороками развития, среди постнатальных образцов. Высокий уровень гетерозиготности по STR-маркерам, использованным в исследовании, позволил получить результат во всех образцах по всем проанализированным хромосомам. Наиболее предпочтительно применять метод КФ-ПЦР для пренатального обследования на поздних сроках беременности при подозрении на частые анеуплоидии у плода, для подтверждения хромосомных аномалий при выявлении анеуплоидий методами неинвазивного пренатального тестирования и для постнатальной диагностики несбалансированных хромосомных аномалий.

Aneuploidy is a numerical chromosome abnormality in a diploid set in a cell. The most common aneuploidies observed in case of live birth are aneuploidies on chromosomes 13, 18, 21, X, and Y. At the present moment, it is possible to use a fast, reliable, and cheap method of quantitative fluorescent polymerase chain reaction (QF-PCR) for diagnosing frequent aneuploidies. The analysis of 1192 prenatal samples and 195 postnatal samples using this method detected various chromosomal abnormalities in 15% of cases. The most frequently detected aneuploidy was a trisomy 21 - 9.7%. The trisomy 18 rate was 2.0%, trisomy 13 - 0.3%. Among the anomalies of the sex chromosomes, Klinefelter syndrome was found in 1.1% and Turner syndrome in 0.8% of cases. There was a decrease in the proportion of aneuploidies accompanied by severe malformations in postnatal samples. The high level of the STR markers heterozygosity used in the study made it possible to obtain results in all samples for analyzed chromosomes. It is most preferable to use the QF-PCR method for prenatal examination of patients with suspected frequent fetal aneuploidies during late pregnancy or to confirm chromosomal abnormalities in case of aneuploidy detection by noninvasive prenatal test and for postnatal diagnosis of unbalanced chromosomal abnormalities.

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