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<article article-type="review-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">lvrach</journal-id><journal-title-group><journal-title xml:lang="ru">Лечащий Врач</journal-title><trans-title-group xml:lang="en"><trans-title>Lechaschi Vrach</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1560-5175</issn><issn pub-type="epub">2687-1181</issn><publisher><publisher-name>ООО «Издательство "Открытые системы"»</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.51793/OS.2024.27.12.007</article-id><article-id custom-type="elpub" pub-id-type="custom">lvrach-1328</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>ГИНЕКОЛОГИЯ. ЭНДОКРИНОЛОГИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>GYNECOLOGY. ENDOCRINOLOGY</subject></subj-group></article-categories><title-group><article-title>Генетические аспекты неиммунной водянки плода</article-title><trans-title-group xml:lang="en"><trans-title>Genetic aspects of nonimmune hydrops fetalis</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0001-7305-9036</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Саркисян</surname><given-names>Е. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Sarkisyan</surname><given-names>H. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Саркисян Егине Альбертовна, к.м.н., доцент кафедры госпитальной педиатрии имени академика В. А. Таболина</p><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>Heghine A. Sarkisyan, Cand. of Sci. (Med.), Associate Professor of Academician V. A. Tabolin Department of Hospital Paediatrics</p><p>1 Ostrovityanova str., Moscow, 117997</p></bio><email xlink:type="simple">heghinesarg@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0762-2086</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Думова</surname><given-names>С. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Dumova</surname><given-names>S. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Думова Светлана Владимировна, к.м.н., доцент кафедры госпитальной педиатрии имени академика В. А. Таболина</p><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>Svetlana V. Dumova, Cand. of Sci. (Med.), Associate Professor of the Academician V. A. Tabolin Department of Hospital Paediatrics</p><p>1 Ostrovityanova str., Moscow, 117997</p></bio><email xlink:type="simple">s-dumova16@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/0009-0001-1938-8346</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Шабельникова</surname><given-names>Е. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Shabelnikova</surname><given-names>E. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Шабельникова Екатерина Игоревна, к.м.н., ассистент кафедры госпитальной педиатрии имени академика В. А. Таболина; старший научный сотрудник отдела острой и хронической патологии уха, горла, носа</p><p>117997, Москва, ул. Островитянова, 1; 125412, Москва, ул.  Талдомская, 2</p></bio><bio xml:lang="en"><p>Ekaterina I. Shabelnikova, Cand. of Sci. (Med.), Assistant of the Academician V. A. Tabolin Department of Hospital Paediatrics; Senior Researcher at the Department of Acute and Chronic Pathology of the Ear, Throat, Nose</p><p>1 Ostrovityanova str., Moscow, 117997; 2 Taldomskaya str., Moscow, 125412</p></bio><email xlink:type="simple">eishabelnikova@rambler.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/0009-0001-0614-9215</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Фадеева</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Fadeeva</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Фадеева Анастасия Андреевна, клинический ординатор кафедры госпитальной педиатрии имени академика В. А. Таболина</p><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>Anastasia A. Fadeeva, Clinical resident of the Academician</p><p>1 Ostrovityanova str., Moscow, 117997</p></bio><email xlink:type="simple">anastasifade@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0005-9466-1081</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Зизюкина</surname><given-names>К. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Zizyukina</surname><given-names>K. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Зизюкина Карина Сергеевна, студентка 4-го курса педиатрического факультета</p><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>Karina S. Zizyukina, student of Paediatric faculty, Federal State Autonomous Educational Institution of Higher Education</p><p>1 Ostrovityanova str., Moscow, 117997</p></bio><email xlink:type="simple">kzizyukina@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/0009-0002-8235-6782</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Зяблова</surname><given-names>И. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Zyablova</surname><given-names>I. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Зяблова Ирина Юрьевна, студентка 6-го курса педиатрического факультета</p><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>Irina Yu. Zyablova, student of Paediatric faculty, Federal State Autonomous Educational Institution of Higher Education </p><p>1 Ostrovityanova str., Moscow, 117997</p></bio><email xlink:type="simple">zyablovaaa@xmail.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/0009-0004-6314-1086</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хохлова</surname><given-names>А. П.</given-names></name><name name-style="western" xml:lang="en"><surname>Khokhlova</surname><given-names>A. P.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Хохлова Анастасия Павловна, студентка 6-го курса педиатрического факультета</p><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>Anastasia P. Khokhlova, student of Paediatric faculty, Federal State Autonomous Educational Institution of Higher Education</p><p>1 Ostrovityanova str., Moscow, 117997</p></bio><email xlink:type="simple">nas.hohlova@yandex.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/0000-0003-1842-4154</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Саватеева</surname><given-names>О. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Savateeva</surname><given-names>O. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Саватеева Ольга Ильинична, клинический ординатор кафедры госпитальной педиатрии имени академика В. А. Таболина</p><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>Olga I. Savateeva, Clinical resident of the Academician V. A. Tabolin Department of Hospital Paediatrics</p><p>1 Ostrovityanova str., Moscow, 117997</p></bio><email xlink:type="simple">olgasawa00@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0009-0003-8625-7199</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Мущерова</surname><given-names>Д. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Muscherova</surname><given-names>D. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Мущерова Диана Максимовна, студентка 5-го курса педиатрического факультета</p><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>Diana M. Muscherova, student of Paediatric faculty, Federal State Autonomous Educational Institution of Higher Education</p><p>1 Ostrovityanova str., Moscow, 117997</p></bio><email xlink:type="simple">diana.muscherova@gmail.com</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-3091-6170</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Журавлева</surname><given-names>И. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Zhuravleva</surname><given-names>I. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Журавлева Ирина Витальевна, клинический ординатор кафедры госпитальной педиатрии имени академика В. А. Таболина</p><p>117997, Москва, ул. Островитянова, 1</p></bio><bio xml:lang="en"><p>Irina V. Zhuravleva, Clinical resident of the Academician V. A. Tabolin Department of Hospital Paediatrics</p><p>1 Ostrovityanova str., Moscow, 117997</p></bio><email xlink:type="simple">ira.sindyankina@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Российский национальный исследовательский медицинский университет имени Н. И. Пирогова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>N. I. Pirogov Russian National Research Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Российский национальный исследовательский медицинский университет имени Н. И. Пирогова; Научно-исследовательский клинический институт педиатрии и детской хирургии имени&#13;
академика Ю. Е. Вельтищева</institution><country>Россия</country></aff><aff xml:lang="en"><institution>N. I. Pirogov Russian National Research Medical  University; Academician Yu. E. Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2024</year></pub-date><pub-date pub-type="epub"><day>17</day><month>12</month><year>2024</year></pub-date><volume>0</volume><issue>12</issue><fpage>46</fpage><lpage>54</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Саркисян Е.А., Думова С.В., Шабельникова Е.И., Фадеева А.А., Зизюкина К.С., Зяблова И.Ю., Хохлова А.П., Саватеева О.И., Мущерова Д.М., Журавлева И.В., 2024</copyright-statement><copyright-year>2024</copyright-year><copyright-holder xml:lang="ru">Саркисян Е.А., Думова С.В., Шабельникова Е.И., Фадеева А.А., Зизюкина К.С., Зяблова И.Ю., Хохлова А.П., Саватеева О.И., Мущерова Д.М., Журавлева И.В.</copyright-holder><copyright-holder xml:lang="en">Sarkisyan H.A., Dumova S.V., Shabelnikova E.I., Fadeeva A.A., Zizyukina K.S., Zyablova I.Y., Khokhlova A.P., Savateeva O.I., Muscherova D.M., Zhuravleva I.V.</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://journal.lvrach.ru/jour/article/view/1328">https://journal.lvrach.ru/jour/article/view/1328</self-uri><abstract><sec><title>Введение</title><p>Введение. Неиммунная водянка плода – гетерогенное расстройство, характеризующееся генерализованной гипергидратацией, обусловленной внеклеточным накоплением жидкости в тканях и серозных полостях плода, при отсутствии признаков иммунной сенсибилизации. Распространенность неиммунной водянки плода по разным данным составляет от 0,05% до 0,5%, или примерно 1:4000 живорожденных детей. В основе неиммунной водянки плода лежат более 150 различных нозологий. Значительную долю всех причин, приводящих к неиммунной водянке плода, занимают нарушения в его генетическом материале: хромосомные аномалии, генные и геномные нарушения, RAS-патии. Наиболее часто неиммунная водянка плода сопровождает мутации с изменением числа хромосом, такие как синдром Дауна, Эдвардса и Тернера. Помимо того, важную роль в развитии неиммунной водянки плода играют перинатальные вирусные инфекции, пороки развития лимфатической, сердечно-сосудистой, опорно-двигательной и эндокринной систем, лизосомальные болезни накопления и другие патологии. Усовершенствование методов пренатальной диагностики (в особенности цитогенетических методов исследования) позволило выявлять генетическую причину неиммунной водянки плода во многих случаях, уменьшив при этом группу идиопатической неиммунной водянки плода. Современные методы ультразвукового скрининга позволяют заподозрить наличие генетической аномалии и ассоциированной с ней неиммунной водянки плода уже в I триместре беременности. Выявление этиологии неиммунной водянки плода является определяющим фактором при выборе тактики ведения беременности, определении возможностей и перспектив внутриутробного лечения. Эффективной терапией генетически обусловленной неиммунной водянки плода выступает таргетная, являющаяся перспективным направлением в лечении некоторых патологий и активно развивающаяся сегодня. Развитие генно-инженерной терапии помимо коррекции основной патологии может привести к снижению летальности при неиммунной водянке плода, которая на данный момент достигает 90%.</p></sec><sec><title>Заключение</title><p>Заключение. В данной работе отражена этиологическая структура неиммунной водянки плода с акцентом на генетические нарушения, также отмечены диагностическо-терапевтические и прогностические особенности ведения беременности с неиммунной водянкой плода.</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Background</title><p>Background. Nonimmune hydrops fetalis is a heterogeneous disorder characterized by generalized hyperhydration caused by extracellular accumulation of fluid in the tissues and serous cavities of the fetus, in the absence of signs of immune sensitization. The prevalence of nonimmune hydrops fetalis, according to various data, ranges from 0.05 to 0.5%, or about 1:4000 live births. Nonimmune hydrops fetalis is based on more than 150 different nosologies. A significant proportion of all the causes leading to nonimmune hydrops fetalis are disorders in the genetic material of the fetus: chromosomal abnormalities, genetic and genomic disorders, RAS pathologies. Most often, nonimmune hydrops fetalis accompanies mutations with a change in the number of chromosomes, such as Down syndrome, Edwards and Turner. In addition, perinatal viral infections, malformations of the lymphatic, cardiovascular, musculoskeletal and endocrine systems, lysosomal accumulation diseases and other pathologies play an important role in the development of nonimmune hydrops fetalis. The improvement of prenatal diagnostic methods, especially cytogenetic research methods, made it possible to identify the genetic cause of nonimmune hydrops fetalis in a large number of cases, while reducing the group of idiopathic nonimmune hydrops fetalis. Modern ultrasound screening methods make it possible to suspect the presence of a genetic anomaly and associated nonimmune hydrops fetalis already in the first trimester of pregnancy. The identification of the etiology of nonimmune hydrops fetalis, in turn, is a determining factor in choosing the tactics of pregnancy management, determining the possibilities and prospects of intrauterine treatment. Targeted therapy is an effective therapy for genetically determined nonimmune hydrops fetalis, which is a promising direction in the treatment of certain pathologies and is actively developing today. The development of genetically engineered therapy, in addition to correcting the underlying pathology, can lead to a decrease in mortality in nonimmune hydrops fetalis, which currently reaches 90%.</p></sec><sec><title>Conclusion</title><p>Conclusion. This work reflects the etiological structure of nonimmune hydrops fetalis with an emphasis on genetic disorders, and also notes the diagnostic, therapeutic and prognostic features of pregnancy management with nonimmune hydrops fetalis.</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>неиммунная водянка плода</kwd><kwd>водянка плода</kwd><kwd>генетические нарушения</kwd><kwd>этиология</kwd></kwd-group><kwd-group xml:lang="en"><kwd>nonimmune fetal dropsy</kwd><kwd>fetal dropsy</kwd><kwd>genetic disorders</kwd><kwd>etiology</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">Guo D., He S., Lin N., Dai Y., Li Y., Xu L., et al. Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center. BMC Med Genomics. 2023; 16 (1): 83. 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