medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2023.10.3-47medgen-2365Research ArticleМЕТОДИЧЕСКИЕ МАТЕРИАЛЫMETHODOLOGICAL MATERIALSРекомендации Российского общества медицинских генетиков по хромосомному микроматричному анализуGuidelines of the Russian Society of Medical Geneticists for Chromosomal Microarray AnalysisЛебедевИ. Н.LebedevI. N.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

igor.lebedev@medgenetics.ruШиловаН. В.ShilovaN. V.

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

1, Moskvorechie st., Moscow, 115522

ЮровИ. Ю.IourovI. Yu.

115522, г. Москва, Россия, Каширское шоссе, д. 34125412, г. Москва, ул. Талдомская, д. 2

34, Kashirskoe shosse, Moscow, 115522 2 Taldomskaya st., Moscow, 125412

МалышеваО. В.MalyshevaO. V.

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

3, Mendeleevskaya line, Saint Petersburg, 199034

ТвеленеваА. А.TvelenevaA. A.

119333, г. Москва, ул. Губкина, д. 3, корп.1

3, bldg.1, Gubkina st., Moscow, 119333

МиньженковаМ. Е.MinzhenkovaM. E.

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

1, Moskvorechie st., Moscow, 115522

МарковаЖ. Г.MarkovaZh. G.

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

1, Moskvorechie st., Moscow, 115522

ТолмачеваЕ. Н.TolmachevaE. N.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

КашевароваА. А.KashevarovaA. A.

634050, г. Томск, ул. Набережная реки Ушайки, д. 10

10, Naberejnaya Ushaiki, Tomsk, 634050

Томский национальный исследовательский медицинский центр Российской академии наук, Научно-исследовательский институт медицинской генетикиРоссияTomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical GeneticsRussian FederationМедико-генетический научный центр им. академика Н.П. БочковаРоссияResearch Center for Medical GeneticsRussian FederationНаучный центр психического здоровья; РНИМУ им. Н.И. Пирогова МЗ РФ, НИКИ педиатрии и детской хирургии им. академика Ю.Е. ВельтищеваРоссияMental Health Research Center; Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical UniversityRussian FederationНИИ акушерства, гинекологии и репродуктологии им. Д.О. ОттаРоссияD.O. Ott Research Institute of Obstetrics, Gynecology and ReproductologyRussian FederationЦентр Генетики и Репродуктивной Медицины «ГЕНЕТИКО»РоссияCenter of Genetics and Reproductive Medicine “Genetico”Russian Federation2023081220232210347Copyright © Лебедев И.Н., Шилова Н.В., Юров И.Ю., Малышева О.В., Твеленева А.А., Миньженкова М.Е., Маркова Ж.Г., Толмачева Е.Н., Кашеварова А.А., 20232023Лебедев И.Н., Шилова Н.В., Юров И.Ю., Малышева О.В., Твеленева А.А., Миньженкова М.Е., Маркова Ж.Г., Толмачева Е.Н., Кашеварова А.А.Lebedev I.N., Shilova N.V., Iourov I.Y., Malysheva O.V., Tveleneva A.A., Minzhenkova M.E., Markova Z.G., Tolmacheva E.N., Kashevarova A.A.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/2365

Хромосомный микроматричный анализ представляет наиболее динамично развиваемую область современной клинической цитогенетики, обеспечивая эффективную и высокоразрешающую диагностику несбалансированных микроструктурных хромосомных перестроек. Настоящие рекомендации определяют показания к назначению хромосомного микроматричного анализа для постнатальной и пренатальной диагностики конститутивных хромосомных аномалий, а также рассматривают вопросы интерпретации клинической значимости выявляемых хромосомных вариантов, и медико-генетического консультирования семей пациентов с хромосомными болезнями. Делаются акценты на приоритетности экспертного мнения и необходимости диалога молекулярного цитогенетика и врача-генетика в оценке патогенетической значимости хромосомных вариантов и тактики дальнейшего лабораторного обследования пациента.

Chromosomal microarray analysis is the state-of-the-art of clinical cytogenetics, providing efficient and high-resolution diagnostics of unbalanced chromosomal rearrangements. Current recommendations define the indications for chromosomal microarray analysis in postnatal and prenatal diagnostics of constitutive chromosomal anomalies. Approaches to interpretation of the clinical significance of detected chromosomal variants, as well as genetic counseling for families of patients with chromosomal diseases are discussed. Emphasis is given to the priority of expert opinion and collaboration between molecular cytogeneticist and clinical geneticist in assessing the pathogenetic significance of chromosomal variants and the strategy for subsequent laboratory examination of the patient.

хромосомный микроматричный анализ (ХМА)матричная сравнительная геномная гибридизация (array-CGH)молекулярное кариотипированиевариации числа копий участков ДНК (CNV)хромосомный мозаицизмпренатальная диагностикамедико-генетическое консультированиеchromosomal microarray analysis (CMA)array-based comparative genomic hybridization (array-CGH)molecular karyotypingcopy number variations (CNV)chromosomal mosaicismprenatal diagnosisgenetic counsellingРазработка рекомендаций поддержана грантом РНФ № 21-65-000177, https://rscf.ru/project/21-65-00017/ (генетические исследования)Russian Science Foundation, № 21-65-00017, https://rscf.ru/en/project/21-65-00017/ReferencesMiller D.T., Adam M.P., Aradhya S. et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749-764.Miller D.T., Adam M.P., Aradhya S. et al. 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The authors declare that there are no conflicts of interest present.