ymjЯкутский медицинский журналYakut Medical Journal1813-19052312-1017ЯНЦ КМП10.25789/YMJ.2024.87.29ymj-130Research ArticleСЛУЧАЙ ИЗ ПРАКТИКИCLINICAL CASEПренатальная диагностика синдрома делеции 22q11.2Prenatal diagnosis of the 22q11.2 deletion syndromeГотовцеваЛ. В.GotovtsevaL. V.

Готовцева Люция Васильевна – к.м.н., зав. отд.

Якутск

Gotovtseva Lucia Vasilievna – PhD, Head of the Department of Antenatal Fetal Protection of the Perinatal Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine, Associate Professor of the Department of Obstetrics and Gynecology of the Faculty of Postgraduate Training of Doctors of the MI M.K. Ammosov North-Eastern FU

lutcia@list.ruГовороваИ. П.GovorovaI. P.

Говорова Изабелла Прокопьевна – к.м.н., врач

Govorova Izabella Prokopyevna – PhD, Doctor of the Department of Ultrasound Diagnostics of the Consultative and Diagnostic Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine, Associate Professor of the Department of Obstetrics and Gynecology of the Faculty of Postgraduate Training of Doctors MI M.K. Ammosov North-Eastern FU

iz-govorova@mail.ruДугласН. И.DouglasN. I.

Дуглас Наталья Ивановна – д.м.н., зав. Кафедрой.

Якутск

Douglas Natalya Ivanovna – Doctor of Medical Sciences, Head of the Department of Obstetrics and Gynecology of the Faculty of Postgraduate Training of Doctors

nduglas@yandex.ruСухомясоваА. Л.SukhomyasovaA. L.

Сухомясова Айталина Лукична – к.м.н., зав. МГЦ ПНЦ ГАУ РС(Я) РБ №1-НЦМ им. М.Е. Николаева, в.н.с. Медицинского института СВФУ им. М.К. Аммосова

Sukhomyasova Aitalina Lukishna – PhD, Head of the Department of Medical Genetics Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine, leading researcher of the Laboratory of Molecular Medicine and Human Geneticsof the MI M.K. Ammosov North-Eastern FU

aitalinas@yandex.ruПавловаТ. Ю.PavlovaT. Yu.

Павлова Татьяна Юрьевна – к.м.н., директор

Pavlova Tatyana Yurevna – PhD, Head of the Perinatal Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine, Associate Professor of the Department of Obstetrics and Gynecology of the Faculty of Postgraduate Training of Physicians of the MI M.K. Ammosov North-Eastern FU

tatyanaupavl@mail.ruЗахароваА. В.ZakharovaA. V.

Захарова Александра Вячеславовна – врач

Zakharova Aleksandra Vyacheslavovna – Doctor of the Department of Antenatal Fetal Protection

zahandra@mail.ruКонстантиноваВ. М.KonstantinovaV. M.

Константинова Валентина Михайловна – к.м.н., зав. Отделением

Konstantinova Valentina Mikhailovna – PhD, Head of the Department of Ultrasound Diagnostics of the Consultative and Diagnostic Center of the GAU RS (Y) Republican Hospital No. 1 National Center of Medicine, Associate Professor of the Department of Obstetrics and Gynecology of the Faculty of Postgraduate Training of Physicians of the MI M.K. Ammosov North-Eastern FU

konstavm@mail.ruГАУ РС(Я) РБ №1-НЦМ им. М.Е. НиколаеваРоссияPerinatal Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine; Medical Institute M.K. Ammosov North-Eastern Federal UniversityRussian FederationГАУ РС(Я) РБ №1-НЦМ им. М.Е. НиколаеваРоссияConsultative and Diagnostic Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine; Medical Institute M.K. Ammosov North-Eastern Federal UniversityRussian FederationМедицинский институт СВФУ им. М.К. АммосоваРоссияMedical Institute M.K. Ammosov North-Eastern Federal UniversityRussian FederationПНЦ ГАУ РС(Я) РБ №1-НЦМ им. М.Е. Николаева; Медицинский институт СВФУ им. М.К. АммосоваРоссияMedical Genetics Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine; Medical Institute M.K. Ammosov North-Eastern Federal UniversityRussian FederationПеринатальный центр ГАУ РС(Я) РБ №1НЦМ им. М.Е. НиколаеваРоссияPerinatal Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine; Medical Institute M.K. Ammosov North-Eastern Federal UniversityRussian FederationГАУ РС(Я) РБ №1-НЦМ им. М.Е. НиколаеваРоссияPerinatal Center SAI RS (Y) Republican Hospital No. 1 National Center of MedicineRussian Federation20240402202503134137Copyright © Готовцева Л.В., Говорова И.П., Дуглас Н.И., Сухомясова А.Л., Павлова Т.Ю., Захарова А.В., Константинова В.М., 20252025Готовцева Л.В., Говорова И.П., Дуглас Н.И., Сухомясова А.Л., Павлова Т.Ю., Захарова А.В., Константинова В.М.Gotovtseva L.V., Govorova I.P., Douglas N.I., Sukhomyasova A.L., Pavlova T.Y., Zakharova A.V., Konstantinova V.M.This work is licensed under a Creative Commons Attribution 4.0 License.https://ymj.elpub.ru/jour/article/view/130

Представлены три случая синдрома делеции 22q11.2 на основании пренатально обнаруженных аномалий развития плода. Показана возможность прицельной пренатальной диагностики на основании эхографических критериев у плода для формирования группы высокого риска синдрома делеции хромосомы 22q11.2.

Three cases of 22q11.2 deletion syndrome based on prenatally detected fetal anomalies are presented. The possibility of targeted prenatal diagnosis based on echographic criteria in the fetus for the formation of a high-risk group for deletion syndrome (DM) of chromosome 22q11.2. is shown.

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The authors declare that there are no conflicts of interest present.