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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">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.25557/2073-7998.2025.07.15-23</article-id><article-id custom-type="elpub" pub-id-type="custom">medgen-3066</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>ОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>ORIGINAL RESEARCH</subject></subj-group></article-categories><title-group><article-title>Дефекты нервной трубки. Результаты многолетнего эпидемиологического наблюдения в регионах РФ</article-title><trans-title-group xml:lang="en"><trans-title>Neural tube defects. Results of long-term epidemiological observation in the regions of the Russian Federation</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>Демикова</surname><given-names>Н. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Demikova</surname><given-names>N. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>125412, г. Москва, ул. Талдомская, д. 2;</p><p>125993, г. Москва, ул. Баррикадная, д.2/1</p></bio><bio xml:lang="en"><p>2, Taldomskya st., Moscow, 125412;</p><p>2/1, Barrikadnaya st., Moscow, 125993</p></bio><email xlink:type="simple">ns_d@rambler.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>Путинцев</surname><given-names>А. Н.</given-names></name><name name-style="western" xml:lang="en"><surname>Putintsev</surname><given-names>A. N.</given-names></name></name-alternatives><bio xml:lang="ru"><p>125412, г. Москва, ул. Талдомская, д. 2</p></bio><bio xml:lang="en"><p>2, Taldomskya st., Moscow, 125412</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Никольский</surname><given-names>Д. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Nikolsky</surname><given-names>D. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>125412, г. Москва, ул. Талдомская, д. 2</p></bio><bio xml:lang="en"><p>2, Taldomskya st., Moscow, 125412</p></bio><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Асанов</surname><given-names>А. Ю.</given-names></name><name name-style="western" xml:lang="en"><surname>Asanov</surname><given-names>A. Yu.</given-names></name></name-alternatives><bio xml:lang="ru"><p>119048, г. Москва, ул. Трубецкая, д. 8, стр. 2</p></bio><bio xml:lang="en"><p>8-2, Trubetskaya st.. Moscow, 119991</p></bio><xref ref-type="aff" rid="aff-3"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Обособленное структурное подразделение Научно-исследовательский клинический институт педиатрии и детской хирургии имени академика Ю.Е.Вельтищева ФГАОУ ВО Российский Национальный Исследовательский Медицинский Университет имени Н.И. Пирогова Министерства здравоохранения Российской Федерации;&#13;
ФГБОУ ДПО Российская медицинская академия непрерывного профессионального образования Министерства здравоохранения Российской Федерации</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Russian National Research Medical University named after N.I. Pirogov;&#13;
Russian Medical Academy for Continuous Professional Training</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Обособленное структурное подразделение Научно-исследовательский клинический институт педиатрии и детской хирургии имени академика Ю.Е.Вельтищева ФГАОУ ВО Российский Национальный Исследовательский Медицинский Университет имени Н.И. Пирогова Министерства здравоохранения Российской Федерации</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Russian National Research Medical University named after N.I. Pirogov</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>ФГАОУ ВО Первый Московский государственный медицинский университет имени И.М. Сеченова Министерства здравоохранения Российской Федерации (Сеченовский Университет)</institution><country>Россия</country></aff><aff xml:lang="en"><institution>I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2025</year></pub-date><pub-date pub-type="epub"><day>29</day><month>09</month><year>2025</year></pub-date><volume>24</volume><issue>7</issue><fpage>15</fpage><lpage>23</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Демикова Н.С., Путинцев А.Н., Никольский Д.А., Асанов А.Ю., 2025</copyright-statement><copyright-year>2025</copyright-year><copyright-holder xml:lang="ru">Демикова Н.С., Путинцев А.Н., Никольский Д.А., Асанов А.Ю.</copyright-holder><copyright-holder xml:lang="en">Demikova N.S., Putintsev A.N., Nikolsky D.A., Asanov A.Y.</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.medgen-journal.ru/jour/article/view/3066">https://www.medgen-journal.ru/jour/article/view/3066</self-uri><abstract><sec><title>Введение</title><p>Введение. Дефекты нервной трубки (ДНТ), являясь частыми и тяжелыми пороками развития, остаются значимой причиной смертности и заболеваемости новорожденных, а также вносят немалый вклад в структуру причин мертворождаемости. Для планирования объемов и проведения профилактических мероприятий, направленных на снижение уровня ДНТ, важно знание эпидемиологических характеристик пороков в регионах РФ.</p></sec><sec><title>Цель</title><p>Цель: оценка частоты ДНТ в регионах РФ на основе мониторинга врожденных пороков.</p></sec><sec><title>Методы</title><p>Методы. Исследование включало ретроспективный анализ базы данных эпидемиологического мониторинга врожденных пороков развития (ВПР), охватывающий 13-летний период (2011-2023 гг.). Материалом послужили данные 33 регионов РФ, регулярно проводящих мониторинг ВПР. В исследование включались случаи порока среди живорожденных, мертворожденных, а также элиминированных плодов с ДНТ.</p></sec><sec><title>Результаты</title><p>Результаты. За анализируемый период в базе данных мониторинга ВПР зарегистрировано 7989 случаев ДНТ, общее число новорожденных составило 6834020. Суммарная частота ДНТ составила 11,69 на 10000 рождений (95% ДИ 11,56-11,82). Среди всех случаев ДНТ живорожденные составили 22,32%, мертворожденные – 4,03%, элиминированные плоды – 73,65%. Региональные частоты колебались в диапазоне от 3,25 до 19,99 на 10000 рождений. В группе ДНТ самым частым пороком являются спинномозговые грыжи, к редким порокам относится энцефалоцеле. За период исследования суммарно по всем регионам уровень ДНТ остается стабильным, однако в последние годы (2020-2023) наблюдается незначительное снижение уровня ДНТ, что обусловлено мерами вторичной профилактики.</p></sec><sec><title>Выводы</title><p>Выводы. ДНТ остаются распространенными ВПР. За анализируемый период частота этой группы пороков остается стабильной. Наблюдаемое снижение уровня ДНТ среди новорожденных является результатом профилактических мероприятий второго уровня. Очевидно, что для снижения общей частоты ДНТ необходимо повысить эффективность первичной профилактики (повышение информированности женщин репродуктивного возраста о возможностях снижения рисков, своевременный прием фолиевой кислоты).</p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Introduction</title><p>Introduction. Neural tube defects (NTDs), being frequent and severe developmental defects, remain a significant cause of mortality and morbidity in newborns, and make a significant contribution to the structure of stillbirth causes. To plan the volumes and implement preventive measures aimed at reducing the level of NTDs, it is important to know the epidemiological characteristics of defects in the regions of the Russian Federation.</p></sec><sec><title>Aim</title><p>Aim: to estimate the frequency of neural tube defects in the regions of the Russian Federation based on monitoring of congenital defects.</p></sec><sec><title>Methods</title><p>Methods. The study included a retrospective analysis of the database of epidemiological monitoring of congenital malformations (CM), covering a 13-year period (2011-2023). The material was data from 33 regions of the Russian Federation that regularly monitor CM. The study included cases of defects among live births, stillbirths, as well as eliminated fetuses with NTDs.</p></sec><sec><title>Results</title><p>Results. During the analyzed period, 7989 cases of NTDs were registered in the congenital malformations monitoring database, the total number of newborns was 6,834,020. The total incidence of NTDs was 11.69 per 10,000 births (95% CI 11.56-11.82). Among all cases of NTDs, live births accounted for 22.32%, stillbirths – 4.03%, and eliminated fetuses – 73.65%. Regional frequencies ranged from 3.25 to 19.99 per 10,000 births. In the NTD group, the most common defect is spinal bifida, while encephalocele is a rare defect. During the study period, the level of NTDs in all regions remains stable, however, in recent years (2020-2023) there has been a slight decrease in the level of NTDs, which is due to secondary prevention measures.</p></sec><sec><title>Conclusions</title><p>Conclusions. NTDs remain common congenital malformations. During the analyzed period, the frequency of this group of defects remains stable. The observed decrease in the level of NTDs among newborns is the result of second-level preventive measures. Obviously, in order to reduce the overall incidence of NTDs, it is necessary to increase the effectiveness of primary prevention (raising awareness of women of reproductive age about the possibilities of reducing risks, timely intake of folic acid).</p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>дефекты нервной трубки</kwd><kwd>спинномозговые грыжи</kwd><kwd>черепно-мозговые грыжи</kwd><kwd>популяционная частота</kwd><kwd>новорожденные</kwd><kwd>регионы РФ</kwd></kwd-group><kwd-group xml:lang="en"><kwd>neural tube defects</kwd><kwd>spina bifida</kwd><kwd>encephalocele</kwd><kwd>population frequency</kwd><kwd>newborns</kwd><kwd>regions of the Russian Federation</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">Atlaw D., Tekalegn Y., Sahiledengle B., et al. Magnitude and determinants of neural tube defect in Africa: a systematic review and meta-analysis. 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