Prenatal diagnosis of the 22q11.2 deletion syndrome
https://doi.org/10.25789/YMJ.2024.87.29
Abstract
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.
About the Authors
L. V. Gotovtseva
Perinatal Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine; Medical Institute M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
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
I. P. Govorova
Consultative and Diagnostic Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine; Medical Institute M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
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
N. I. Douglas
Medical Institute M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
Douglas Natalya Ivanovna – Doctor of Medical Sciences, Head of the Department of Obstetrics and Gynecology of the Faculty of Postgraduate Training of Doctors
A. L. Sukhomyasova
Medical Genetics Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine; Medical Institute M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
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
T. Yu. Pavlova
Perinatal Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine; Medical Institute M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
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
A. V. Zakharova
Perinatal Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine
Russian Federation
Russian Federation
Zakharova Aleksandra Vyacheslavovna – Doctor of the Department of Antenatal Fetal Protection
V. M. Konstantinova
Consultative and Diagnostic Center SAI RS (Y) Republican Hospital No. 1 National Center of Medicine; Medical Institute M.K. Ammosov North-Eastern Federal University
Russian Federation
Russian Federation
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
References
1. Rumyantsev A.G., Maschan A.A. Federal and clinical guidelines for the diagnosis and treatment of chromosome 22 deletion syndrome. 2014. P. 3-7.
2. 22q11.2 deletion syndrome: symptoms, diagnosis, treatment. Issues of modern pediatrics. / Namazova-Baranova L.S., Ginter O.V., Polunina T.A., Davydova I.V., Savostyanov K.V., Pushkov A.A., Zhurkova N.V., Mospan T.Ya. 2016; 15(6):590–595. doi: 1010.15690/vsp. v15i6.1656
3. Medvedev M.V., Buryakova S.I., Zamyatina A.I. Prenatal targeted diagnosis of DiGeorge syndrome (22q11.2 deletion syndrome). Prenate. Diagnosis 2019; 18 (4): 377–382. doi: 10.21516/2413-1458-2019-18-4-377-382.
4. Prenatal diagnosis of microdeletion 22q11.2. Prenatal Diagnosis / Kozlova Yu.O., Shilova N.V., Yudina E.V., Minzhenkova M.E., Zolotukhina T.V.
5. Dilated cavum septi pellucidi in fetuses with microdeletion 22q11. Prenatal Diagnosis / Chaoui R., Heling K.S., Zhao Y., Sinkovskaya E., Abuhamad A., Karl K. 2016; 36: 911–915. doi: 10.1002/pd.4911
6. Reliability of fetal thymus measurement in prediction of 22q11.2 deletion: a retrospective study using four-dimensional spatiotemporal image correlation volumes. Ultrasound Obstet. Gynecology / Bataeva R., Bellsham-Revell H., Zidere V., Allan L.D. 2013; 41: 172–176
7. Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects. Ultrasound Obstet. Gynecology / Chaoui R., Kalache K.D., Heling K.S., Tennstedt C., Bommer C., K rner H. 2002; 20 (6): 546–552. doi: 10.1046/j.1469-0705.2002.00864.x
Review
For citations:
Gotovtseva L.V., Govorova I.P., Douglas N.I., Sukhomyasova A.L., Pavlova T.Yu., Zakharova A.V., Konstantinova V.M. Prenatal diagnosis of the 22q11.2 deletion syndrome. Yakut Medical Journal. 2024;(3):134-137. https://doi.org/10.25789/YMJ.2024.87.29
Views:
17
Email this article 