<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<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">perinatology</journal-id><journal-title-group><journal-title xml:lang="ru">Российский вестник перинатологии и педиатрии</journal-title><trans-title-group xml:lang="en"><trans-title>Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">1027-4065</issn><issn pub-type="epub">2500-2228</issn><publisher><publisher-name>Ltd. “The National Academy of Pediatric Science and Innovation”</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.21508/1027-4065-2022-67-5-96-102</article-id><article-id custom-type="elpub" pub-id-type="custom">perinatology-1707</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>ОБМЕН ОПЫТОМ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>SHARING EXPERIENCES</subject></subj-group></article-categories><title-group><article-title>Дородовая диагностика критических врожденных пороков сердца в Республике Казахстан: обобщение восьмилетнего опыта одного центра</article-title><trans-title-group xml:lang="en"><trans-title>Prenatal diagnosis of critical congenital heart defects in Kazakhstan: a single-center 8 years’ experience</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-0980-254X</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Горбунов</surname><given-names>Д. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Gorbunov</surname><given-names>D. V.</given-names></name></name-alternatives><bio xml:lang="ru"><p>зав. отделением детской кардиохирургии,</p><p>010000 г. Астана, пр. Туран, д. 38 </p><p>cardiacsurgeryres@gmail.com</p></bio><bio xml:lang="en"><p>Astana</p></bio><email xlink:type="simple">gibbus@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/0000-0002-4204-2730</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Абикеева</surname><given-names>Л. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Abikeeva</surname><given-names>L. S.</given-names></name></name-alternatives><bio xml:lang="ru"><p>врач функциональной диагностики,</p><p>010000 г. Астана, пр. Туран, д. 38 </p></bio><bio xml:lang="en"><p>Astana</p></bio><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>НАО «Национальный научный кардиохирургический центр»</institution><country>Казахстан</country></aff><aff xml:lang="en"><institution>National Research Cardiac Surgery Center</institution><country>Kazakhstan</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2022</year></pub-date><pub-date pub-type="epub"><day>18</day><month>11</month><year>2022</year></pub-date><volume>67</volume><issue>5</issue><fpage>96</fpage><lpage>102</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Ltd. “The National Academy of Pediatric Science and Innovation”, 2022</copyright-statement><copyright-year>2022</copyright-year><copyright-holder xml:lang="ru">Ltd. “The National Academy of Pediatric Science and Innovation”</copyright-holder><copyright-holder xml:lang="en">Ltd. “The National Academy of Pediatric Science and Innovation”</copyright-holder><license xlink:href="https://www.ped-perinatology.ru/jour/about/submissions#copyrightNotice" xlink:type="simple"><license-p>https://www.ped-perinatology.ru/jour/about/submissions#copyrightNotice</license-p></license></permissions><self-uri xlink:href="https://www.ped-perinatology.ru/jour/article/view/1707">https://www.ped-perinatology.ru/jour/article/view/1707</self-uri><abstract><sec><title>Цель исследования</title><p>Цель исследования. Количественная и качественная оценка результатов пренатальной диагностики критических врожденных пороков сердца в Республике Казахстан на основании лечения новорожденных в условиях головного кардиохирургического центра.</p></sec><sec><title>Методы</title><p>Методы. Проведен ретроспективный анализ историй болезни 511 новорожденных с критическими врожденными пороками сердца, пролеченных в Национальном научном кардиохирургическом центре в 2012–2019 гг. Доля оперированных составила 474 (92,8%) из 511. Изучены следующие параметры: наличие дородового диагноза критического порока сердца (да/ нет); формулировка пренатального диагноза; формулировка постнатального диагноза; расхождение пре- и постнатального диагнозов (да/нет); для новорожденных, у которых диагноз был выставлен пренатально, срок гестации во время установки диагноза и регион, где впервые был выставлен диагноз.</p></sec><sec><title>Результаты</title><p>Результаты. Врожденные пороки сердца были диагностированы пренатально у 297 (58,1%) новорожденных. Доля расхождения пре- и постнатального диагнозов составила 62 (21,5%) из 288. По срокам установки пренатального диагноза новорожденные распределились следующим образом: скрининг I триместра — 20 из 272 (7,4%), скрининг II триместра — 139 из 272 (51,1%), скрининг III триместра — 113 из 272 (41,5%). До 22 нед беременности были диагностированы 71 (26,1%) из 272 пациентов. Среди пролеченных в кардиохирургическом центре новорожденных доля диагностированных пренатально в различных регионах республики варьирует от 20 до 100%.</p></sec><sec><title>Выводы</title><p>Выводы. 1) Пренатальная диагностика критических врожденных пороков сердца осуществляется во всех регионах Республики Казахстан, обеспечивая приемлемый уровень выявляемости; 2) в половине случаев критические врожденные пороки сердца диагностируются во время второго скрининга; 3) индивидуально врачами ультразвуковой диагностики применяется расширенный протокол исследования сердца плода; 4) при выявлении критического порока сердца до 22 нед гестации выбор чаще делается в пользу вынашивания беременности; 5) наиболее сложен для пренатальной диагностики тотальный аномальный дренаж легочных вен. </p></sec></abstract><trans-abstract xml:lang="en"><sec><title>Purpose</title><p>Purpose. To give a quantitative and qualitative assessment of the results of prenatal diagnosis of critical congenital heart defects in the Republic of Kazakhstan based on the treatment of newborns at the head cardiac surgery center.</p></sec><sec><title>Methods</title><p>Methods. A retrospective analysis of the medical records of 511 newborns with critical congenital heart defects treated at the National Research Cardiac Surgery Center (NRCSC) in 2012–2019 was performed. The proportion of those operated on was 474/511 (92.8%). The studied parameters were the presence of prenatal diagnosis of critical congenital heart defects (yes/no); prenatal diagnosis formulation; postnatal diagnosis formulation; discrepancy between pre- and postnatal diagnoses (yes/no); for a prenatally diagnosed newborn — the gestational age at the time of the diagnosis and the region where the diagnosis was firstly made.</p></sec><sec><title>Results</title><p>Results. Prenatally, 297/511 (58.1%) newborns were diagnosed. The rate of discrepancies between pre- and postnatal diagnoses was 62/288 (21.5%). According to the timing of the prenatal diagnosis, newborns were distributed as follows: first trimester screening — 20/272 (7.4%), second trimester screening — 139/272 (51.1%), third trimester screening — 113/272 (41.5%). Up to 22 weeks of gestation, 71/272 (26.1%) patients were diagnosed. Among the newborns treated at the NRCSC, the proportion of those diagnosed prenatally in different regions of the Kazakhstan varies from 20% to 100%.</p></sec><sec><title>Conclusions</title><p>Conclusions. 1) Prenatal diagnosis of critical congenital heart defects is carried out in all regions of Kazakhstan, providing an acceptable level of detection; 2) in half of the cases, critical congenital heart defects are diagnosed during the second screening, however, there is an experience of their accurate detection as early as during the first screening; 3) individually, doctors of ultrasound diagnostics in Kazakhstan apply an extended protocol for examining the fetal heart; 4) a significant proportion of fetuses diagnosed before the 22nd week of gestation shows the choice of families in favor of carrying of a pregnancy when a critical congenital heart defects is detected; 5) the greatest difficulty for prenatal diagnosis is presented by patients with total anomalous pulmonary veins return. </p></sec></trans-abstract><kwd-group xml:lang="ru"><kwd>дети</kwd><kwd>критический врожденный порок сердца</kwd><kwd>неонатальная кардиохирургия</kwd><kwd>пренатальная диагностика</kwd><kwd>выявляемость</kwd><kwd>точность диагностики</kwd></kwd-group><kwd-group xml:lang="en"><kwd>children</kwd><kwd>critical congenital heart defect</kwd><kwd>neonatal cardiac surgery</kwd><kwd>prenatal diagnosis</kwd><kwd>detection rate</kwd><kwd>discrepancy rate</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">Dolk H., Loane M., Garne E., European Surveillance of Congenital Anomalies Working Group. Congenital heart defects in Europe: prevalence and perinatal mortality, 2000 to 2005. Circulation 2011; 123: 841-849. DOI: 10.1161/CIRCULATIONAHA.110.958405</mixed-citation><mixed-citation xml:lang="en">Dolk H., Loane M., Garne E., European Surveillance of Congenital Anomalies Working Group. Congenital heart defects in Europe: prevalence and perinatal mortality, 2000 to 2005. Circulation 2011; 123: 841-849. DOI: 10.1161/CIRCULATIONAHA.110.958405</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">Здоровье населения Республики Казахстан и деятельность организаций здравоохранения в 2019 году. Стат. сб. Астана, 2020;244-245.</mixed-citation><mixed-citation xml:lang="en">Health of the population of the Republic of Kazakhstan and the activities of healthcare organizations in 2019. Nur-Sultan, 2020; 244-245. (in Russ.)</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Mahle W.T., Newburger J.W., Matherne G.P., Smith F.C., Hoke T.R., Koppel R. et al. Role of pulse oximetry in examining newborns for congenital heart disease: a scientific statement from the American Heart Association and American Academy of Pediatrics. Circulation 2009; 120(5): 447-458. DOI: 10.1161/CIRCULATIONAHA.109.192576</mixed-citation><mixed-citation xml:lang="en">Mahle W.T., Newburger J.W., Matherne G.P., Smith F.C., Hoke T.R., Koppel R. et al. Role of pulse oximetry in examining newborns for congenital heart disease: a scientific statement from the American Heart Association and American Academy of Pediatrics. Circulation 2009; 120(5): 447-458. DOI: 10.1161/CIRCULATIONAHA.109.192576</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Bakker M.K., Bergman J.E.H., Krikov S., Amar E., Cocchi G., Cragan J. et al. Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study. BMJ Open 2019; 9: e028139. DOI: 10.1136/bmjopen-2018-028139</mixed-citation><mixed-citation xml:lang="en">Bakker M.K., Bergman J.E.H., Krikov S., Amar E., Cocchi G., Cragan J. et al. Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study. BMJ Open 2019; 9: e028139. DOI: 10.1136/bmjopen-2018-028139</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Бокерия Е.Л. Перинатальная кардиология: настоящее и будущее. Часть I: врожденные пороки сердца. Российский вестник перинатологии и педиатрии 2019; 64(3): 5-10. DOI: 10.21508/1027-4065-2019-64-3-5-10</mixed-citation><mixed-citation xml:lang="en">Bokerija E.L. Perinatal cardiology: the present and the future. Part I: congenital heart disease. Rossiyskiy Vestnik Perinatologii i Pediatrii 2019;64:(3): 5-10. (in Russ.) DOI: 10.21508/1027-4065-2019-64-3-5-10</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Медведев М.В. Пренатальная эхография. Дифференциальный диагноз и прогноз. М.: Реальное время, 2009; 450 с.</mixed-citation><mixed-citation xml:lang="en">Medvedev M.V. Prenatal echography. Differential diagnosis and prognosis. M.: Real’noe vremja, 2009; 450 s. (in Russ.)</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Bensemlali M., Stirnemann J., Le Bidois J., Lévy M, Raimondi F., Hery E. et al. Discordances between pre-natal and post-natal diagnoses of congenital heart diseases and impact on care strategies. J Am Coll Cardiol 2016; 68: 921 — 930. DOI: 10.1016/j.jacc.2016.05.087</mixed-citation><mixed-citation xml:lang="en">Bensemlali M., Stirnemann J., Le Bidois J., Lévy M, Raimondi F., Hery E. et al. Discordances between pre-natal and post-natal diagnoses of congenital heart diseases and impact on care strategies. J Am Coll Cardiol 2016; 68: 921 — 930. DOI: 10.1016/j.jacc.2016.05.087</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Соколов А.А., Марцинкевич Г.И. Сопоставление результатов фетальной и постнатальной эхокардиографии. Российский вестник перинатологии и педиатрии 2014; 59(3): 66-70.</mixed-citation><mixed-citation xml:lang="en">Sokolov A.A., Marcinkevich G.I. Comparison of the results of fetal and postnatal echocardiography. Rossiyskiy Vestnik Perinatologii i Pediatrii 2014; 59(3): 66-70. (in Russ.)</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Шумакова О.В., Бокерия Е.Л. Клинический аудит преи постнатальной диагностики обструктивных пороков левых отделов сердца в условиях перинатального центра третьего уровня. Российский кардиологический журнал 2020; 25(8): 3788. DOI: 10.15829/1560-4071-2020-3788</mixed-citation><mixed-citation xml:lang="en">Shumakova O.V., Bokeria E.L. Clinical audit of pre- and postnatal diagnostics of obstructive congenital left heart defects at the perinatal center (level III). Rossiiskii kardiologicheskii zhurnal 2020; 25(8): 3788. (in Russ.) DOI: 10.15829/1560-4071-2020-3788</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Ganesan S., Brook M.M., Silverman N.H., Moon-Grady A.J. Prenatal findings in total anomalous pulmonary venous return: a diagnostic road map starts with obstetric screening views. J Ultrasound Med 2014; 33(7): 1193-1207. DOI: 10.7863/ultra.33.7.1193. PMID: 24958406</mixed-citation><mixed-citation xml:lang="en">Ganesan S., Brook M.M., Silverman N.H., Moon-Grady A.J. Prenatal findings in total anomalous pulmonary venous return: a diagnostic road map starts with obstetric screening views. J Ultrasound Med 2014; 33(7): 1193-1207. DOI: 10.7863/ultra.33.7.1193. PMID: 24958406</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Paladini D., Pistorio A., Wu L.H., Meccariello G., Lei T., Tuo G. et al. Prenatal diagnosis of total and partial anomalous pulmonary venous connection: multicenter cohort study and meta-analysis. Ultrasound Obstet Gynecol 2018; 52(1): 24- 34. DOI: 10.1002/uog.18907. PMID: 28926132</mixed-citation><mixed-citation xml:lang="en">Paladini D., Pistorio A., Wu L.H., Meccariello G., Lei T., Tuo G. et al. Prenatal diagnosis of total and partial anomalous pulmonary venous connection: multicenter cohort study and meta-analysis. Ultrasound Obstet Gynecol 2018; 52(1): 24- 34. DOI: 10.1002/uog.18907. PMID: 28926132</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Germanakis I., Sifakis S. The impact of fetal echocardiography on the prevalence of liveborn congenital heart disease. Pediatr Cardiol 2006; 27: 465-472. DOI: 10.1007/s00246-006-1291-6</mixed-citation><mixed-citation xml:lang="en">Germanakis I., Sifakis S. The impact of fetal echocardiography on the prevalence of liveborn congenital heart disease. Pediatr Cardiol 2006; 27: 465-472. DOI: 10.1007/s00246-006-1291-6</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
