urmjУральский медицинский журналUral Medical Journal2949-4389Ural State Medical University10.25694/URMJ.2018.13.62urmj-431Research ArticleПЕРИНАТОЛОГИЯСравнительный обзор методов диагностики хромосомных аномалий у плодов с пороками развития и/или эхографическими маркерами хромосомной патологииComparative review of methods for diagnosing chromosomal abnormalities in fetuses with malformations and / or echographic markers of chromosomal pathologyКиевскаяЮ. К.KievskayaJ. K.noemail@neicon.ruКанивецИ. В.KanivetsI. V.noemail@neicon.ruШиловаН. В.ShilovaN. V.noemail@neicon.ruКоростелевС. А.KorostelevS. A.noemail@neicon.ruПьянковД. В.PyankovD. V.noemail@neicon.ruКудрявцеваЕ. В.KudryavtsevaE. V.noemail@neicon.ruOOO «Геномед»Russian FederationOOO «Геномед»; ФГБОУ ДПО Российская академия непрерывного профессионального образованияRussian FederationФГБНУ Медико-генетический научный центрRussian FederationФГАОУ ВО Первый МГМУ им. И.М. Сеченова Минздрава РоссииRussian FederationУральский государственный медицинский университетRussian Federation2018140420210134853Copyright © Киевская Ю.К., Канивец И.В., Шилова Н.В., Коростелев С.А., Пьянков Д.В., Кудрявцева Е.В., 20212021Киевская Ю.К., Канивец И.В., Шилова Н.В., Коростелев С.А., Пьянков Д.В., Кудрявцева Е.В.Kievskaya J.K., Kanivets I.V., Shilova N.V., Korostelev S.A., Pyankov D.V., Kudryavtseva E.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.umjusmu.ru/jour/article/view/431

В статье представлен сравнительный анализ методов, применяемых для диагностики хромосомных аномалий у плодов, имеющих пороки развития и/или эхографические маркеры хромосомной патологии. Наиболее широко внедрен и используется стандартный цитогенетический анализ кариотипа, однако небольшая разрешающая способность данного метода в 8Mb не позволяет выявлять микроделеции, микродупликации, которые в свою очередь в 5-6% случаев являются причинами пороков и/или аномалий развития у плода. Применение хромосомного микроматричного анализа (ХМА) увеличивает диагностическую эффективность пренатальной диагностики, и позволяет своевременно поставить диагноз, определив прогноз для жизни ребенка после рождения. Выбор метода диагностики генетической патологии у плодов с ВПР и/или аномалиями развития на данный момент ничем не регламентирован и зачастую основан на технических возможностях лаборатории. На данный момент, накоплен большой массив данных, подтверждающих эффективность применения SNP-микроматриц по сравнению с классическими цитогенетическими методами.

The article presents a comparative analysis of methods used for the diagnosis of genetic pathology in fetuses with malformations and / or developmental abnormalities. The standard cytogenetic analysis of the karyotype is most widely implemented and used, however, the low resolution of this method in 8Mb does not allow for the detection of microdeletions and microduplications, which in turn in 5-6% of cases are the causes of malformations and / or developmental abnormalities in the fetus. When using chromosomal microarray analysis (CMA) it increases the diagnostic efficacy of prenatal diagnosis, which allows making a diagnosis in a timely manner, determining the prognosis for the life of the child after birth. The choice of method for diagnosing genetic pathology in fetuses with congenital malformations and / or developmental abnormalities is currently not regulated and is often based on the technical capabilities of the laboratory. At the moment, a large amount of data has been accumulated confirming the effectiveness of the use of SNP microarrays compared to classical cytogenetic methods.

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