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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">actabiomedica</journal-id><journal-title-group><journal-title xml:lang="ru">Acta Biomedica Scientifica</journal-title><trans-title-group xml:lang="en"><trans-title>Acta Biomedica Scientifica</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2541-9420</issn><issn pub-type="epub">2587-9596</issn><publisher><publisher-name>Scientific Centre for Family Health and Human Reproduction Problems</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.29413/ABS.2025-10.1.7</article-id><article-id custom-type="elpub" pub-id-type="custom">actabiomedica-5213</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ГЕНЕТИКА, ПРОТЕОМИКА И МЕТАБОЛОМИКА</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>GENETICS, PROTEOMICS AND METABOLOMICS</subject></subj-group></article-categories><title-group><article-title>Промежуточные результаты селективного скрининга с использованием полноэкзомного секвенирования у новорождённых</article-title><trans-title-group xml:lang="en"><trans-title>Interim results of selective screening using whole exome sequencing in newborns</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-9039-2743</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Богоносова</surname><given-names>Г. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Bogonosova</surname><given-names>G. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Богоносова Галина Петровна – аспирант лаборатории педиатрии, врач-неонатолог, 664003, г. Иркутск, ул. Тимирязева, 16;</p><p>врач-неонатолог, 664009, г. Иркутск, ул. Советская, 57анно</p></bio><bio xml:lang="en"><p>Galina P. Bogonosova – Postgraduate at the Laboratory of Pediatrics, Neonatologist, Timiryazeva str. 16, Irkutsk 664003;</p><p>Neonatologist, Sovetskaya str. 57, Irkutsk 664009</p></bio><email xlink:type="simple">us.galina@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-2162-3683</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бугун</surname><given-names>О. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Bugun</surname><given-names>O. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Бугун Ольга Витальевна – доктор медицинских наук, заместитель директора по клинической работе, </p><p>664003, г. Иркутск, ул. Тимирязева, 16</p></bio><bio xml:lang="en"><p>Olga V. Bugun – Dr. Sc. (Med.), Deputy Director for Clinical Work, </p><p>Timiryazeva str. 16, Irkutsk 664003</p></bio><email xlink:type="simple">clinica_zam1@inbox.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-7660-2695</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ионушене</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Ionushene</surname><given-names>S. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Ионушене Светлана Владимировна – кандидат медицинских наук, врач анестезиолог-реаниматолог, 664003, г. Иркутск, ул. Тимирязева, 16;</p><p>врач анестезиолог-реаниматолог, 664025, г. Иркутск, ул. Сурикова, 16</p></bio><bio xml:lang="en"><p>Svetlana  V. Ionushene – Cand.  Sc. (Med.), Anesthesiologist-Reanimatologist, Timiryazeva str. 16, Irkutsk 664003;</p><p>Anesthesiologist-Reanimatologist, Surikova str. 16, Irkutsk 664025</p></bio><email xlink:type="simple">ionouche@mail.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-1427-4734</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Астахова</surname><given-names>Т. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Astakhova</surname><given-names>T. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Астахова Татьяна Александровна – кандидат медицинских наук, старший научный сотрудник лаборатории педиатрии и кардиоваскулярной патологии, </p><p>664003, г. Иркутск, ул. Тимирязева, 16</p></bio><bio xml:lang="en"><p>Tatyana A. Astakhova – Cand. Sc. (Med.), Senior Research Officer at the Laboratory of Pediatrics and Cardiovascular Pathology,</p><p>Timiryazeva str. 16, Irkutsk 664003</p></bio><email xlink:type="simple">tatjana_astahova@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0003-8158-5142</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Голобкова</surname><given-names>И. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Golobkova</surname><given-names>I. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Голобкова Ирина Михайловна – клинический ординатор кафедры нервных болезней по специальности «генетика», </p><p>664003, г. Иркутск, ул. Красного Восстания, 1</p></bio><bio xml:lang="en"><p>Irina M. Golobkova – Clinical Resident in Genetics at the Department of Nervous Diseases, </p><p>Krasnogo Vosstaniya str. 1, Irkutsk 664003</p></bio><email xlink:type="simple">i_golobokova@mail.ru</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-4424-0271</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Докшукина</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Dokshukina</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Докшукина Алина Алексеевна – врач-генетик Института репродуктивной генетики, врач-неонатолог, научный сотрудник консультативного педиатрического отделения отдела педиатрии Института неонатологии и педиатрии, </p><p>117997, г. Москва, ул. Академика Опарина, 4</p></bio><bio xml:lang="en"><p>Аlina А. Dokshukina – Geneticist at the Institute of Reproductive Genetics, Neonatologist, Research Officer at the Pediatric Outpatient Department, Institute of Neonatology and Pediatrics, </p><p>Oparina str. 4, Moscow 117997</p></bio><email xlink:type="simple">alina.dokshukina.gen@gmail.com</email><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-4383-7428</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Шубина</surname><given-names>Е.</given-names></name><name name-style="western" xml:lang="en"><surname>Shubina</surname><given-names>Je.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Шубина Екатерина – кандидат биологических наук, заведующая лабораторией анализа геномных данных Института репродуктивной генетики, </p><p>117997, г. Москва, ул. Академика Опарина, 4</p></bio><bio xml:lang="en"><p>Jekaterina Shubina – Cand. Sc. (Biol.), Head of the Laboratory for Genomic Data Analysis, Institute of Reproductive Genetics, </p><p>Oparina str. 4, Moscow 117997</p></bio><email xlink:type="simple">e_shubina@oparina4.ru</email><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-3704-830X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Баирова</surname><given-names>Т. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Bairova</surname><given-names>T. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Баирова Татьяна Ананьевна – доктор медицинских наук, заведующая лабораторией персонализированной медицины, </p><p>664003, г. Иркутск, ул. Тимирязева, 16</p></bio><bio xml:lang="en"><p>Tatyana A. Bairova – Dr. Sc. (Med.), Head of the Laboratory of Personalized Medicine,</p><p>Timiryazeva str. 16, Irkutsk 664003</p></bio><email xlink:type="simple">tbairova38@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-8975-2425</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Дегтярев</surname><given-names>Д. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Degtyarev</surname><given-names>D. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Дегтярев Дмитрий Николаевич – доктор медицинских наук, профессор, заместитель директора по научной работе, </p><p>117997, г. Москва, ул. Академика Опарина, 4</p></bio><bio xml:lang="en"><p>Dmitriy N. Degtyarev – Dr. Sc. (Med.), Professor, Deputy Director for Science,</p><p>Oparina str. 4, Moscow 117997</p></bio><email xlink:type="simple">d.degtiarev@oparina4.ru</email><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-1569-8486</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Трофимов</surname><given-names>Д. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Trofimov</surname><given-names>D. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Трофимов Дмитрий Юрьевич – доктор биологических наук, профессор РАН, член-корреспондент РАН, директор Института репродуктивной генетики, </p><p>117997, г. Москва, ул. Академика Опарина, 4</p></bio><bio xml:lang="en"><p>Dmitry Yu. Trofimov – Dr. Sc. (Biol.), Professor of the RAS, Corresponding Member of the RAS, Director of the Institute of Reproductive Genetics,</p><p>Oparina str. 4, Moscow 117997</p></bio><email xlink:type="simple">d_trofimov@oparina4.ru</email><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0117-2563</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Рычкова</surname><given-names>Л. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Rychkova</surname><given-names>L. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Рычкова Любовь Владимировна – доктор медицинских наук, профессор, член-корреспондент РАН, директор, </p><p>664003, г. Иркутск, ул. Тимирязева, 16</p></bio><bio xml:lang="en"><p>Lyubov V. Rychkova – Dr. Sc. (Med.), Professor, Corresponding Member of the RAS, Director,</p><p>Timiryazeva str. 16, Irkutsk 664003</p></bio><email xlink:type="simple">iphr@sbamsr.irk.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-5428-602X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мартынович</surname><given-names>Н. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Martynovich</surname><given-names>N. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мартынович Наталья Николаевна – доктор медицинских наук, профессор, заведующая кабинетом Детского центра орфанных заболеваний, </p><p>115093, г. Москва, ул. Большая Серпуховская, 62</p></bio><bio xml:lang="en"><p>Natalya N. Martynovich – Dr. Sc. (Med), Professor, Head of the Department of Pediatric Centre for Orphan Diseases,</p><p>Bolshaya Serpukhovskaya str. 62, Moscow 115093</p></bio><email xlink:type="simple">mn-07@bk.ru</email><xref ref-type="aff" rid="aff-6"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-5527-4904</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Иванова</surname><given-names>О. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Ivanova</surname><given-names>O. G.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Иванова Ольга Геннадьевна – врач анестезиолог-реаниматолог, </p><p>664025, г. Иркутск, ул. Сурикова, 16</p></bio><bio xml:lang="en"><p>Olga G. Ivanova – Anesthesiologist-Reanimatologist, </p><p>Surikova str. 16, Irkutsk 664025</p></bio><email xlink:type="simple">olgaivgir81@yandex.ru</email><xref ref-type="aff" rid="aff-7"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-2354-0635</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кононенко</surname><given-names>М. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Kononenko</surname><given-names>M. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кононенко Марина Ивановна – врач-неонатолог,</p><p>664009, г. Иркутск, ул. Советская, 57</p></bio><bio xml:lang="en"><p>Marina I. Kononenko – Neonatologist, </p><p>Sovetskaya str. 57, Irkutsk 664009</p></bio><email xlink:type="simple">29marinared74@mail.ru</email><xref ref-type="aff" rid="aff-8"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0001-1996-0621</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Колодина</surname><given-names>В. О.</given-names></name><name name-style="western" xml:lang="en"><surname>Kolodina</surname><given-names>V. O.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Колодина Виктория Олеговна – врач-неонатолог, </p><p>664009, г. Иркутск, ул. Советская, 57</p></bio><bio xml:lang="en"><p>Viktoria O. Kolodina – Neonatologist,</p><p>Sovetskaya str. 57, Irkutsk 664009</p></bio><email xlink:type="simple">doc.v.k@bk.ru</email><xref ref-type="aff" rid="aff-8"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-5870-7752</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Кузнецова</surname><given-names>Н. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Kuznetsova</surname><given-names>N. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кузнецова Нина Николаевна – врач-неонатолог, </p><p>664009, г. Иркутск, ул. Советская, 57</p></bio><bio xml:lang="en"><p>Nina N. Kuznetsova – Neonatologist, </p><p>Sovetskaya str. 57, Irkutsk 664009</p></bio><email xlink:type="simple">knn-67@mail.ru</email><xref ref-type="aff" rid="aff-8"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-1677-3054</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Ахмедзянова</surname><given-names>М. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Akhmedzyanova</surname><given-names>M. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Ахмедзянова Маргарита Рашидовна – младший научный сотрудник, </p><p>664003, г. Иркутск, ул. Тимирязева, 16</p></bio><bio xml:lang="en"><p>Margarita R. Akhmedzyanova – Junior Research Officer,</p><p>Timiryazeva str. 16, Irkutsk 664003</p></bio><email xlink:type="simple">med-lab-gen@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБНУ «Научный центр проблем здоровья семьи и репродукции человека»;&#13;
ОГАУЗ «Городская Ивано-Матрёнинская детская клиническая больница»</institution></aff><aff xml:lang="en"><institution>Scientific Centre for Family Health and Human Reproduction Problems;&#13;
Ivano-Matreninskaya City Children’s Clinical Hospital</institution></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБНУ «Научный центр проблем здоровья семьи и репродукции человека»</institution></aff><aff xml:lang="en"><institution>Scientific Centre for Family Health and Human Reproduction Problems</institution></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ФГБНУ «Научный центр проблем здоровья семьи и репродукции человека»;&#13;
ОГБУЗ «Иркутский городской перинатальный центр им. Малиновского М.С.»</institution></aff><aff xml:lang="en"><institution>Scientific Centre for Family Health and Human Reproduction Problems;&#13;
M.S. Malinovsky Irkutsk City Perinatal Centre</institution></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>ФГБОУ ВО «Иркутский государственный медицинский университет» Минздрава России</institution></aff><aff xml:lang="en"><institution>Irkutsk State Medical University</institution></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru"><institution>ФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии имени академика В.И. Кулакова» Минздрава России</institution></aff><aff xml:lang="en"><institution>National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov</institution></aff></aff-alternatives><aff-alternatives id="aff-6"><aff xml:lang="ru"><institution>ГБУЗ МО «Научно-исследовательский клинический институт детства Министерства здравоохранения Московской области»</institution></aff><aff xml:lang="en"><institution>Research Clinical Institute of Childhood of the Ministry of Healthcare of the Moscow&#13;
Region</institution></aff></aff-alternatives><aff-alternatives id="aff-7"><aff xml:lang="ru"><institution>ОГБУЗ «Иркутский городской перинатальный центр им. Малиновского М.С.»</institution></aff><aff xml:lang="en"><institution>M.S. Malinovsky Irkutsk City Perinatal Centre</institution></aff></aff-alternatives><aff-alternatives id="aff-8"><aff xml:lang="ru"><institution>ОГАУЗ «Городская Ивано-Матрёнинская детская клиническая больница»</institution></aff><aff xml:lang="en"><institution>Ivano-Matreninskaya City Children’s Clinical Hospital</institution></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>18</day><month>03</month><year>2025</year></pub-date><volume>10</volume><issue>1</issue><fpage>69</fpage><lpage>76</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Богоносова Г.П., Бугун О.В., Ионушене С.В., Астахова Т.А., Голобкова И.М., Докшукина А.А., Шубина Е., Баирова Т.А., Дегтярев Д.Н., Трофимов Д.Ю., Рычкова Л.В., Мартынович Н.Н., Иванова О.Г., Кононенко М.И., Колодина В.О., Кузнецова Н.Н., Ахмедзянова М.Р., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Богоносова Г.П., Бугун О.В., Ионушене С.В., Астахова Т.А., Голобкова И.М., Докшукина А.А., Шубина Е., Баирова Т.А., Дегтярев Д.Н., Трофимов Д.Ю., Рычкова Л.В., Мартынович Н.Н., Иванова О.Г., Кононенко М.И., Колодина В.О., Кузнецова Н.Н., Ахмедзянова М.Р.</copyright-holder><copyright-holder xml:lang="en">Bogonosova G.P., Bugun O.V., Ionushene S.V., Astakhova T.A., Golobkova I.M., Dokshukina A.A., Shubina J., Bairova T.A., Degtyarev D.N., Trofimov D.Y., Rychkova L.V., Martynovich N.N., Ivanova O.G., Kononenko M.I., Kolodina V.O., Kuznetsova N.N., Akhmedzyanova M.R.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.actabiomedica.ru/jour/article/view/5213">https://www.actabiomedica.ru/jour/article/view/5213</self-uri><abstract><sec><title>Обоснование</title><p>Обоснование. Диагностика наследственных заболеваний представляет собой трудную задачу ввиду большого числа нозологических форм, редкой встречаемости каждого отдельно взятого заболевания, что может приводить к длительному диагностическому поиску для пациента. Активно внедряющиеся в широкую практику молекулярно-генетические методы диагностики, среди которых полноэкзомное секвенирование, позволяют повысить и  ускорить выявляемость генетических заболеваний у  новорождённых и тем самым улучшить прогнозы для ребёнка.</p></sec><sec><title>Цель исследования</title><p>Цель исследования. Оценить частоту генетических нарушений у новорождённых с соматической и хирургической патологией при проведении селективного скрининга с использованием полноэкзомного секвенирования.</p></sec><sec><title>Методы</title><p>Методы. Проведена оценка результатов генетического обследования новорождённых, проходивших лечение в отделениях неонатального профиля ОГАУЗ «Городская Ивано-Матренинская детская клиническая больница» с февраля по октябрь 2024 г. в рамках регионального пилотного проекта по селективному экзомному скринингу новорождённых детей, проводимого на базе ФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии имени академика В.И. Кулакова» Минздрава России. Их ДНК была изолирована из образцов венозной крови, после чего выполнено полноэкзомное секвенирование и при необходимости – хромосомный микроматричный анализ.</p></sec><sec><title>Результаты</title><p>Результаты. Среди 80  обследованных новорождённых большую часть составили дети с врождёнными пороками развития и поражением нервной системы. Генетические находки разной степени значимости выявлены у  31,2  % детей. Патогенные и  вероятно патогенные варианты в  генах обнаружены у  16,2  % пациентов, а  хромосомные аберрации – у  2,5  %. Генетические находки разной степени значимости найдены у 52 % обследованных по поводу поражения нервной системы и у 18 % новорождённых с  врождёнными пороками развития. К  моменту описания генетический диагноз подтверждён у 16,2 % обследованных на основании соответствия имеющегося фенотипа ребёнка с выявленным вариантом гена.</p></sec><sec><title>Выводы</title><p>Выводы. Результаты данного исследования свидетельствуют о  возможной высокой встречаемости экзомных отклонений при неонатальной патологии, а также о высокой эффективности полноэкзомного секвенирования в их диагностике.</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Background</title><p>Background. Evaluation of hereditary diseases is a difficult task due to the large number of nosologic forms, rare occurrence of each disease, which can lead to a long diagnostic search for the patient. Different methods of molecular genetics, including full-exome sequencing, are actively introducing into the complex of examination of newborns with general pathology and lead to better diagnosis and prognosis for children and their families.</p></sec><sec><title>The aim of the study</title><p>The aim of the study. To estimate the frequency of occurrence of genetic disorders in newborns with somatic and surgical pathology during selective screening using whole exome sequencing.</p></sec><sec><title>Materials and methods</title><p>Materials and methods. Within the  framework of  the  regional pilot project on selective exome screening of newborn children, which is carried out on the basis of the National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I. Kulakov, we estimated the results of genetic evaluation of 80 newborns who were treated in the neonatal departments of the Ivano-Matreninskaya City Children’s Clinical Hospital from February to October 2024.</p></sec><sec><title>Results</title><p>Results. Eighty children were examined. Genetic findings of varying significance were detected in  31.2  % of  the  examined children. Pathogenic and likely pathogenic gene variants were detected in 16.2 % of cases, and chromosomal aberrations in  2.5  % of  patients. Genetic findings of  varying significance were found in  52  % of those examined for nervous system damage and in 18 % of patients with congenital malformations. By the time of description, the genetic diagnosis was confirmed in 16.2 % of patients with genetic findings. The diagnosis was based on the complete correspondence of the child’s existing phenotype with the identified gene variant.</p></sec><sec><title>Conclusions</title><p>Conclusions. The results of this study indicate a possible high incidence of exome abnormalities in neonatal pathology, as well as the high efficiency of whole exome sequencing in their diagnosis.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>полноэкзомное секвенирование новорождённых</kwd><kwd>неонатальный скрининг</kwd><kwd>наследственное заболевание</kwd><kwd>экзом</kwd><kwd>новорождённые</kwd></kwd-group><kwd-group xml:lang="en"><kwd>whole-exome sequencing</kwd><kwd>neonatal screening</kwd><kwd>hereditary disease</kwd><kwd>exome</kwd><kwd>newborns</kwd></kwd-group><funding-group><funding-statement xml:lang="ru">Работа проводилась в рамках Соглашения с Министерство здравоохранения России №  056-02-2024-214 от 15.02.2024.</funding-statement></funding-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Ferreira CR, van Karnebeek CDM. Inborn errors of metabolism. 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