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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">vitj</journal-id><journal-title-group><journal-title xml:lang="ru">Врач и информационные технологии</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Doctor and Information Technologies</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1811-0193</issn><issn pub-type="epub">2413-5208</issn><publisher><publisher-name>Pirogov National Medical and Surgical Center</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25881/18110193_2025_3_22</article-id><article-id custom-type="elpub" pub-id-type="custom">vitj-221</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>ОБЗОРЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEWS</subject></subj-group></article-categories><title-group><article-title>Возможности применения методов машинного обучения для повышения качества пренатальной диагностики врожденных пороков развития: обзор предметного поля</article-title><trans-title-group xml:lang="en"><trans-title>Possibilities of applying machine learning methods to improve the quality of prenatal diagnosis of congenital malformations: scoping review</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Миронов</surname><given-names>Д. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Mironov</surname><given-names>D. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>г. Архангельск</p></bio><bio xml:lang="en"><p>Arkhangelsk</p></bio><email xlink:type="simple">danu.mironoff.200708@yandex.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Спирин</surname><given-names>И. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Spirin</surname><given-names>I. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>г. Санкт-Петербург</p></bio><bio xml:lang="en"><p>Saint Petersburg</p></bio><email xlink:type="simple">cia-10@mail.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Усынина</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Usynina</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>д.м.н.</p><p>г. Архангельск</p></bio><bio xml:lang="en"><p>DSc</p><p>Arkhangelsk</p></bio><email xlink:type="simple">perinat@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Постоев</surname><given-names>В. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Postoev</surname><given-names>V. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>к.м.н.</p><p>г. Архангельск</p></bio><bio xml:lang="en"><p>PhD</p><p>Arkhangelsk</p></bio><email xlink:type="simple">v.postoev@nsmu.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБУ ВО «СГМУ» МЗ РФ</institution><country>Россия</country></aff><aff xml:lang="en"><institution>FSBEI HE «NSMU» MH RF</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБОУ ВО СПбГПМУ МЗ РФ</institution><country>Россия</country></aff><aff xml:lang="en"><institution>FSBEI HE SPbSPMU MH RF</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>12</day><month>10</month><year>2025</year></pub-date><volume>0</volume><issue>3</issue><fpage>22</fpage><lpage>35</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Миронов Д.С., Спирин И.А., Усынина А.А., Постоев В.А., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Миронов Д.С., Спирин И.А., Усынина А.А., Постоев В.А.</copyright-holder><copyright-holder xml:lang="en">Mironov D.S., Spirin I.A., Usynina A.A., Postoev V.A.</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.vit-j.ru/jour/article/view/221">https://www.vit-j.ru/jour/article/view/221</self-uri><abstract><p>Алгоритмы машинного обучения (МО) находят применение во всех сферах жизни человека. Пренатальный скрининг (ПС) не является исключением. Внедрение методов МО для оценки результатов ПС позволит преодолеть проблемы, присущие анализу людьми: снизить субъективность и вариабельность между разными специалистами при чтении медицинских изображений, сократить время исследования, стратифицировать беременных по группам риска с большей достоверностью. Настоящее исследование сконцентрировано на оценке диагностической результативности применения технологий, основанных на применении методов искусственного интеллекта (ИИ), для оценки результатов ПС. Исследование проводилось в соответствии с методологией обзора предметного поля. По результатам поиска в базах PubMed и eLibrary идентифицировано 27 релевантных работ. Все включенные работы продемонстрировали положительный потенциал методов ИИ для обнаружения, классификации или прогнозирования рисков развития врожденных аномалий (ВА). При интерпретации медицинских изображений МО позволяет сократить время диагностики, повысить ее качество, обеспечить возможность проведения данного варианта диагностики в удаленных и труднодоступных районах или в условиях кадрового дефицита, сохраняя при этом достаточную чувствительность и специфичность вне зависимости от квалификации врача. Алгоритмы на основе метаболомного анализа обладают преимуществами в точности и эффективности прогнозирования хромосомных аномалий. Системы поддержки принятия врачебных решений позволяют улучшить прогнозирование развития ВА в первом триместре беременности как с точки зрения точности скрининга, так и с точки зрения снижения стоимости программы скрининга.Тем не менее текущие эмпирически подтверждённые знания в основном получены при внедрении систем ИИ с низкой автономностью действий, и авторы большинства включенных в анализ исследований описывают ряд ограничений, которые необходимо учитывать при внедрении подобных решений.</p></abstract><trans-abstract xml:lang="en"><p>Machine learning algorithms are used in many areas of medicine. Prenatal screening (PS) is no exception. Implementing machine learning techniques to evaluate PS results can help overcome the problems inherent in human analysis: reduce subjectivity and inter-expert variability when reading medical images, reduce examination time, and stratify pregnant women into risk groups with greater reliability. The scoping review was conducted to evaluate the diagnostic performance of machine learning technologies in PS. Twenty-seven relevant papers were identified by through PubMed, Cochrane and eLibrary databases. All included papers demonstrated the potential of machine learning methods to detect, classify, or predict of the risk of congenital anomalies. Interpreting medical images, machine learning allows to reduce the diagnostic time, improve its quality, ensure screening performance in remote areas or in conditions of staff shortage and to maintain sufficient sensitivity and specificity, regardless of the doctor's qualifications. Algorithms based on metabolomic analysis have advantages in accuracy and efficiency in predicting chromosomal anomalies. Clinical decision support systems based on factors of anamnesis and results of prenatal diagnostics can improve the prediction of congenital anomalies in the first trimester of pregnancy, both in terms of screening accuracy and in reducing the cost of the screening program. However, current evidence is mainly derived from the implementation of machine learning systems with low autonomy, and the authors of most of the studies included in the analysis describe a number of limitations that must be taken into account when implementing such solutions.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>врожденные аномалии</kwd><kwd>искусственный интеллект</kwd><kwd>машинное обучение</kwd><kwd>пренатальная диагностика</kwd><kwd>пренатальный скрининг</kwd><kwd>обзор предметного поля</kwd></kwd-group><kwd-group xml:lang="en"><kwd>artificial intelligence</kwd><kwd>machine learning</kwd><kwd>prenatal diagnostics</kwd><kwd>prenatal screening</kwd><kwd>congenital anomalies</kwd><kwd>scoping review</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Макаренцева АО. 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