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<article 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" xmlns:ali="http://www.niso.org/schemas/ali/1.0/" article-type="review-article" dtd-version="1.2" xml:lang="en"><front><journal-meta><journal-id journal-id-type="publisher-id">Digital Diagnostics</journal-id><journal-title-group><journal-title xml:lang="en">Digital Diagnostics</journal-title><trans-title-group xml:lang="ru"><trans-title>Digital Diagnostics</trans-title></trans-title-group><trans-title-group xml:lang="zh"><trans-title>Digital Diagnostics</trans-title></trans-title-group></journal-title-group><issn publication-format="print">2712-8490</issn><issn publication-format="electronic">2712-8962</issn><publisher><publisher-name xml:lang="en">Eco-Vector</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">694087</article-id><article-id pub-id-type="doi">10.17816/DD694087</article-id><article-id pub-id-type="edn">DPJIBT</article-id><article-categories><subj-group subj-group-type="toc-heading" xml:lang="en"><subject>Reviews</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="ru"><subject>Научные обзоры</subject></subj-group><subj-group subj-group-type="toc-heading" xml:lang="zh"><subject>科学评论</subject></subj-group><subj-group subj-group-type="article-type"><subject>Review Article</subject></subj-group></article-categories><title-group><article-title xml:lang="en">Artificial intelligence in ultrasound diagnosis of fetal congenital malformations: a review</article-title><trans-title-group xml:lang="ru"><trans-title>Применение искусственного интеллекта в ультразвуковой диагностике врождённых пороков развития плода: обзор</trans-title></trans-title-group><trans-title-group xml:lang="zh"><trans-title>人工智能在胎儿先天性发育异常超声诊断中的应用：综述</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-4129-3930</contrib-id><contrib-id contrib-id-type="spin">4245-1324</contrib-id><name-alternatives><name xml:lang="en"><surname>Pomortsev</surname><given-names>Alexey V.</given-names></name><name xml:lang="ru"><surname>Поморцев</surname><given-names>Алексей Викторович</given-names></name><name xml:lang="zh"><surname>Pomortsev</surname><given-names>Alexey V.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>MD, Dr. Sci. (Medicine), Professor</p></bio><bio xml:lang="ru"><p>д-р мед. наук, профессор</p></bio><bio xml:lang="zh"><p>MD, Dr. Sci. (Medicine), Professor</p></bio><email>pomor-av@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-2957-9100</contrib-id><contrib-id contrib-id-type="spin">3698-7393</contrib-id><name-alternatives><name xml:lang="en"><surname>D’yachenko</surname><given-names>Julia Yu.</given-names></name><name xml:lang="ru"><surname>Дьяченко</surname><given-names>Юлия Юрьевна</given-names></name><name xml:lang="zh"><surname>D’yachenko</surname><given-names>Julia Yu.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>MD</p></bio><bio xml:lang="zh"><p>MD</p></bio><email>dyachenko0701@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-9576-6724</contrib-id><contrib-id contrib-id-type="spin">4344-3299</contrib-id><name-alternatives><name xml:lang="en"><surname>Matosian</surname><given-names>Mariam A.</given-names></name><name xml:lang="ru"><surname>Матосян</surname><given-names>Мариам Альбертовна</given-names></name><name xml:lang="zh"><surname>Matosian</surname><given-names>Mariam A.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>MD</p></bio><bio xml:lang="zh"><p>MD</p></bio><email>Mariam_lev/90@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0005-9684-4025</contrib-id><contrib-id contrib-id-type="spin">3179-3080</contrib-id><name-alternatives><name xml:lang="en"><surname>Arutyunyan</surname><given-names>Ekaterina A.</given-names></name><name xml:lang="ru"><surname>Арутюнян</surname><given-names>Екатерина Алексеевна</given-names></name><name xml:lang="zh"><surname>Arutyunyan</surname><given-names>Ekaterina A.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>MD</p></bio><bio xml:lang="zh"><p>MD</p></bio><email>katebarsukova1507@gmail.com</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0009-5869-9188</contrib-id><contrib-id contrib-id-type="spin">5080-0577</contrib-id><name-alternatives><name xml:lang="en"><surname>Arutyunyan</surname><given-names>Milena A.</given-names></name><name xml:lang="ru"><surname>Арутюнян</surname><given-names>Милена Александровна</given-names></name><name xml:lang="zh"><surname>Arutyunyan</surname><given-names>Milena A.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>milena.arutunan@yandex.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0008-9259-0488</contrib-id><contrib-id contrib-id-type="spin">8014-5050</contrib-id><name-alternatives><name xml:lang="en"><surname>Janok</surname><given-names>Zarema A.</given-names></name><name xml:lang="ru"><surname>Янок</surname><given-names>Зарема Адамовна</given-names></name><name xml:lang="zh"><surname>Janok</surname><given-names>Zarema A.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>zarema.yanok777@gmail.com</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0002-2985-9428</contrib-id><contrib-id contrib-id-type="spin">4071-0396</contrib-id><name-alternatives><name xml:lang="en"><surname>Emizh</surname><given-names>Bela A.</given-names></name><name xml:lang="ru"><surname>Емиж</surname><given-names>Бэла Адамовна</given-names></name><name xml:lang="zh"><surname>Emizh</surname><given-names>Bela A.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>bela.001@mail.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0000-6288-7469</contrib-id><contrib-id contrib-id-type="spin">4027-6355</contrib-id><name-alternatives><name xml:lang="en"><surname>Nikitina</surname><given-names>Veronika R.</given-names></name><name xml:lang="ru"><surname>Никитина</surname><given-names>Вероника Романовна</given-names></name><name xml:lang="zh"><surname>Nikitina</surname><given-names>Veronika R.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><email>nikakristall@yandex.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-8195-5930</contrib-id><contrib-id contrib-id-type="spin">9245-9969</contrib-id><name-alternatives><name xml:lang="en"><surname>Astafieva</surname><given-names>Olga V.</given-names></name><name xml:lang="ru"><surname>Астафьева</surname><given-names>Ольга Викторовна</given-names></name><name xml:lang="zh"><surname>Astafieva</surname><given-names>Olga V.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>MD, Dr. Sci. (Medicine)</p></bio><bio xml:lang="ru"><p>д-р мед. наук</p></bio><bio xml:lang="zh"><p>MD, Dr. Sci. (Medicine)</p></bio><email>olga-astafeva2@rambler.ru</email><xref ref-type="aff" rid="aff1"/></contrib><contrib contrib-type="author"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0003-1508-203X</contrib-id><contrib-id contrib-id-type="spin">8138-0208</contrib-id><name-alternatives><name xml:lang="en"><surname>Katrich</surname><given-names>Aleksey N.</given-names></name><name xml:lang="ru"><surname>Картич</surname><given-names>Алексей Николаевич</given-names></name><name xml:lang="zh"><surname>Katrich</surname><given-names>Aleksey N.</given-names></name></name-alternatives><address><country country="RU">Russian Federation</country></address><bio xml:lang="en"><p>MD, Dr. Sci. (Medicine)</p></bio><bio xml:lang="ru"><p>д-р мед. наук</p></bio><bio xml:lang="zh"><p>MD, Dr. Sci. (Medicine)</p></bio><email>katrich-a1@yandex.ru</email><xref ref-type="aff" rid="aff1"/></contrib></contrib-group><aff-alternatives id="aff1"><aff><institution xml:lang="en">Kuban State Medical University</institution></aff><aff><institution xml:lang="ru">Кубанский государственный медицинский университет</institution></aff><aff><institution xml:lang="zh">Kuban State Medical University</institution></aff></aff-alternatives><pub-date date-type="preprint" iso-8601-date="2026-04-07" publication-format="electronic"><day>07</day><month>04</month><year>2026</year></pub-date><pub-date date-type="pub" iso-8601-date="2026-04-30" publication-format="electronic"><day>30</day><month>04</month><year>2026</year></pub-date><volume>7</volume><issue>1</issue><issue-title xml:lang="en"/><issue-title xml:lang="ru"/><issue-title xml:lang="zh"/><fpage>87</fpage><lpage>98</lpage><history><date date-type="received" iso-8601-date="2025-10-30"><day>30</day><month>10</month><year>2025</year></date><date date-type="accepted" iso-8601-date="2026-03-11"><day>11</day><month>03</month><year>2026</year></date></history><permissions><copyright-statement xml:lang="en">Copyright ©; 2026, Eco-Vector</copyright-statement><copyright-statement xml:lang="ru">Copyright ©; 2026, Эко-вектор</copyright-statement><copyright-statement xml:lang="zh">Copyright ©; 2026, Eco-Vector</copyright-statement><copyright-year>2026</copyright-year><copyright-holder xml:lang="en">Eco-Vector</copyright-holder><copyright-holder xml:lang="ru">Эко-вектор</copyright-holder><copyright-holder xml:lang="zh">Eco-Vector</copyright-holder><ali:free_to_read xmlns:ali="http://www.niso.org/schemas/ali/1.0/"/><license><ali:license_ref xmlns:ali="http://www.niso.org/schemas/ali/1.0/">https://creativecommons.org/licenses/by-nc-nd/4.0</ali:license_ref></license></permissions><self-uri xlink:href="https://jdigitaldiagnostics.com/DD/article/view/694087">https://jdigitaldiagnostics.com/DD/article/view/694087</self-uri><abstract xml:lang="en"><p>Timely detection of congenital malformations of the fetus remains one of the urgent problems of modern prenatal diagnostics. The survival rate of children, the volume and quality of medical care during treatment and rehabilitation directly depend on early and reliable diagnosis. In modern medicine, prenatal diagnosis is an obligatory complex of medical manipulations, various methods of examining patients to monitor the health of a pregnant woman and fetus. Ultrasound is one of the main methods of medical imaging, as it is non-invasive, safe and informative in the examination of pregnant women. Recently, technologies for processing video files and static images using artificial intelligence have been actively used in ultrasound diagnostics.</p> <p>This review collects and analyzes 52 sources by both foreign and domestic authors. The list of sources used includes domestic and foreign original research in the field of the use of artificial intelligence in prenatal diagnostics, systematic reviews, methodological manuals, practical and clinical recommendations, and monographs. PubMed, Google Scholar, and eLibrary were selected as search engines. A comprehensive search was performed using keywords in Russian and English: <italic>искусственный</italic><italic> интеллект</italic> / <italic>artificial intelligence</italic>, <italic>ультразвуковая</italic><italic> диагностика</italic> / <italic>ultrasound diagnostics</italic>, <italic>нейросеть</italic> / <italic>neural network</italic>, <italic>плод</italic> / <italic>fetus</italic>, and <italic>врождённые</italic><italic> пороки</italic><italic> развития</italic> / <italic>congenital malformations</italic>. The search depth was 6 years (from 2020 to 2025).</p> <p>The review revealed the obvious advantages of using neural network systems in prenatal diagnostics. Automation and standardization of fetal ultrasound examination make it possible to create a real-time neural network analysis algorithm and ensure quality control of the resulting echographic images. The undoubted advantages of artificial intelligence technologies are minimizing the variability of instrumental diagnosis between different specialists and reducing the time to obtain the “correct” echographic section. In addition, artificial intelligence enables the automatic identification of standard scanning planes, “recognition” of anatomical structures, and biometric measurements in the fetus.</p> <p>There are problems associated with the introduction of modern intelligent decision support systems in healthcare around the world and in Russia in particular. The most pressing issues are medical, legal, and ethical issues, the problem of lack of transparency in decision-making (“black box”), leading to skepticism among specialists, and poor effectiveness in diagnosing rare anomalies due to the small amount of training material.</p> <p>Today, modern computer technologies with the function of neural network analysis in prenatal diagnostics should be considered as a powerful auxiliary tool for doctors.</p></abstract><trans-abstract xml:lang="ru"><p>Одной из актуальных проблем современной пренатальной диагностики остаётся своевременное выявление врождённых пороков развития плода. Выживаемость детей, объём и качество медицинской помощи при лечении и реабилитации напрямую зависят от ранней и достоверной постановки диагноза. В современной медицине пренатальная диагностика является обязательным комплексом медицинских манипуляций, различных методов обследования пациенток для контроля за состоянием здоровья беременной и плода. Современным решением по совершенствованию качества пренатальной диагностики может стать применение технологий искусственного интеллекта.</p> <p>Одним из основных методов медицинской визуализации при обследовании беременных является ультразвуковое исследование, поскольку оно неинвазивное, безопасное и информативное. В последнее время в ультразвуковой диаг-ностике также активно используют технологии обработки видеофайлов и статичных изображений с помощью искусственного интеллекта.</p> <p>В обзоре собраны данные из 52 источников литературы как отечественных, так и зарубежных авторов. Проанализированы оригинальные исследования в области применения искусственного интеллекта в пренатальной диагностике, систематические обзоры, методические пособия, практические и клинические рекомендации, монографии. Сбор данных проводили с помощью поисковых систем PubMed, Google Scholar и eLibrary на русском и английском языках с использованием ключевых слов: «искусственный интеллект», «ультразвуковая диагностика», «нейросеть», «плод», «врождённые пороки развития», «artificial intelligence», «ultrasound diagnostics», «neural network», «fetus», «congenital malformations». Глубина поиска составила 6 лет (с 2020 по 2025 год).</p> <p>В обзоре представлены очевидные преимущества применения нейросетевых систем в пренатальной диагностике. Автоматизация и стандартизация ультразвукового исследования плода позволяют создать алгоритм нейросетевого анализа в режиме реального времени и обеспечить контроль качества получаемых эхографических изображений. Несомненными преимуществами технологий искусственного интеллекта являются минимизация вариабельности инструментального диагноза между различными специалистами и сокращение времени получения «правильного» эхографического среза. Кроме того, искусственный интеллект позволяет автоматически определить стандартные плоскости сканирования, осуществить «распознавание» анатомических структур и выполнить биометрические измерения у плода. Тем не менее существует некоторые объективные проблемы, связанные с внедрением современных интеллектуальных систем поддержки принятия решений в здравоохранение по всему миру, в частности в нашей стране. Наиболее актуальными являются медико-юридические и этические вопросы, проблема отсутствия прозрачности принятия решений («чёрный ящик»), ведущая к насторожённости специалистов, а также слабая результативность при диагностике редких аномалий вследствие малого количества обучающего материала.</p> <p>Таким образом, современные компьютерные технологии с функцией нейросетевого анализа в пренатальной диагностике следует рассматривать как мощный вспомогательный инструмент для врачей.</p></trans-abstract><trans-abstract xml:lang="zh"><p>现代产前诊断面临的实际问题之一是胎儿先天性发育异常的及时检出。患儿的生存率、治疗和康复的医疗救助规模与质量直接取决于早期可靠的诊断。现代医学中，产前诊断是控制孕妇和胎儿健康状况的强制性医疗操作综合体和各种检查方法。完善产前诊断质量的现代解决方案可能是人工智能技术的应用。</p> <p>孕妇检查时，医学可视化主要方法是超声波检查，因其无创、安全且信息丰富。近年来，超声诊断中还积极利用人工智能技术处理视频文件和静态图像。</p> <p>本综述收集了52个文献来源数据，包括国内外作者。分析了人工智能在产前诊断应用领域的原创研究、系统综述、方法指南、实践和临床建议、专著。通过PubMed、Google Scholar和eLibrary搜索引擎收集数据，使用俄语和英语关键词：“人工智能”、“超声诊断”、 “神经网络”、“胎儿”、“先天性畸形”。检索深度为6年（2020年至2025年）。</p> <p>综述展示了神经网络系统在产前诊断中应用的明显优势。胎儿超声检查的自动化和标准化允许创建实时神经网络分析算法，并确保获取的超声图像质量可控。人工智能技术的明显优势包括最小化不同专家间仪器诊断的变异性及缩短获取“正确”超声切面的时间。此外，人工智能可自动确定标准扫描平面、“识别”解剖结构并执行胎儿的生物测量。然而，存在一些与在全球医疗保健中引入现代智能决策支持系统相关的客观问题，特别是在我国。最实际的是医疗法律和伦理问题、决策缺乏透明度（“黑箱”）导致专家警惕性，以及因训练材料数量少导致罕见异常诊断效果差。</p> <p>因此，具有神经网络分析功能的现代计算机技术在产前诊断中应被视为医生的强大辅助工具。</p></trans-abstract><kwd-group xml:lang="en"><kwd>artificial intelligence</kwd><kwd>ultrasound diagnostics</kwd><kwd>neural network</kwd><kwd>fetus</kwd><kwd>congenital malformations</kwd><kwd>review</kwd></kwd-group><kwd-group xml:lang="ru"><kwd>искусственный интеллект</kwd><kwd>ультразвуковая диагностика</kwd><kwd>нейросеть</kwd><kwd>плод</kwd><kwd>врождённые пороки развития</kwd><kwd>обзор</kwd></kwd-group><kwd-group xml:lang="zh"><kwd>人工智能</kwd><kwd>超声诊断</kwd><kwd>神经网络</kwd><kwd>胎儿</kwd><kwd>先天性发育异常</kwd><kwd>综述</kwd></kwd-group><funding-group><award-group><funding-source><institution-wrap><institution xml:lang="ru">Министерства образования и науки России</institution></institution-wrap><institution-wrap><institution xml:lang="en">Ministry of Science and Higher Education of the Russian Federation</institution></institution-wrap><institution-wrap><institution xml:lang="zh">Ministry of Science and Higher Education of the Russian Federation</institution></institution-wrap></funding-source><award-id>075-15-2025-108</award-id></award-group><funding-statement xml:lang="en">This review was part of the Priority–2030 program of the Ministry of Science and Higher Education of the Russian Federation (Youth and Children national project). Funding was provided by the scientific project “Development of an intelligent information decision support system ‘Formation of an instrumental diagnosis for the detection of malformations of the central nervous system, cardiovascular system, peritoneal cavity, and other congenital anomalies in the fetus’ based on neural network models” (Agreement No. 075-15-2025-108 “b,” dated March 29, 2025).</funding-statement><funding-statement xml:lang="ru">Настоящий обзор подготовлен в рамках реализации программы Министерства образования и науки России «Приоритет-2030» (нацпроект «Молодёжь и дети»). Финансирование осуществлялось за счёт денежных средств научного проекта «Разработка интеллектуальной информационной системы поддержки принятия решений “Формирование инструментального диагноза для выявления пороков центральной нервной системы, сердечно-сосудистой системы, брюшной полости и иных врождённых аномалий у плода” на основе нейросетевых моделей» в рамках исполнения Соглашения № 075-15-2025-108 от 29.03.2025 «б».</funding-statement><funding-statement xml:lang="zh">This review was part of the Priority–2030 program of the Ministry of Science and Higher Education of the Russian Federation (Youth and Children national project). Funding was provided by the scientific project “Development of an intelligent information decision support system ‘Formation of an instrumental diagnosis for the detection of malformations of the central nervous system, cardiovascular system, peritoneal cavity, and other congenital anomalies in the fetus’ based on neural network models” (Agreement No. 075-15-2025-108 “b,” dated March 29, 2025).</funding-statement></funding-group></article-meta></front><body></body><back><ref-list><ref id="B1"><label>1.</label><mixed-citation>Aftab N. Artificial intelligence in obstetrics and gynaecology: advancing precision and personalised care. Cureus. 2025;17(6):e86929. doi: 10.7759/cureus.86929</mixed-citation></ref><ref id="B2"><label>2.</label><mixed-citation>Carvalho JS, Axt-Fliedner R, Chaoui R, et al. ISUOG practice guidelines (updated): fetal cardiac screening. 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