Cardiac pathology in cases of monozygotic twins with chromosome 22 deletion syndrome (22q11DS)

DOI

https://dx.doi.org/10.18565/aig.2022.6.140-151

Yarygina T.A., Gasanova R.M., Bolshakova A.S., Marzoeva O.V., Sypchenko E.V., Gus A.I.
1) A.N. Bakulev National Medical Research Center of Cardiovascular Surgery, Ministry of Health of Russia, Moscow, Russia; 2) Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia, Moscow, Russia

The publication presents the Russian Federation’s first clinical case of prenatal detection of concordant cardiac pathology: common truncus arteriosus in monochorionic diamniotic twin fetuses at 20–21 weeks’ gestation. Evaluation of ultrasound markers for syndrome pathology and a genetic study of placental tissue in this case could diagnose chromosome 22 deletion syndrome (22q11DS). The literature review gives prenatal echographic criteria for determining a high risk of 22q11DS in fetuses with congenital heart diseases that are characteristic of both singleton and multiple pregnancies and analyzes in detail all published cases of prenatal and postnatal detection of chromosome 22q11 deletion in monozygotic twins. It analyzes literature sources on cardiac pathology in 22q11DS: it investigates in detail the rate and pattern of cardiovascular anomalies, the features of the course of the postoperative period, and long-term outcomes in patients with 22q11DS.
Conclusion: The awareness of clinical specialists about the prenatal manifestations of chromosome 22q11 deletion and the use of the proposed diagnostic algorithm should ensure the earliest possible detection of this syndrome pathology in fetuses and comprehensive counseling to form a reproductive prognosis for a married couple.

chromosome 22 deletion syndrome

22q11DS

congenital heart disease

multiple pregnancy

prenatal diagnosis

Full text (in Russian)

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Received 31.03.2022

Accepted 25.04.2022

Tamara A. Yarygina, MD, PhD, specialist of ultrasound diagnostics, researcher at the Perinatal Cardiology Center, A.N. Bakulev National Medical Research Center
of Cardiovascular Surgery, Ministry of Health of Russia, +7(495)414-78-75, tayarygina@bakulev.ru, https://orcid.org/0000-0001-6140-1930,
121552, Russia, Moscow, Rublevskoe shosse, 135.
Rena M. Gasanova, MD, PhD, Head of the Perinatal Cardiology Center, A.N. Bakulev National Medical Research Center of Cardiovascular Surgery, Ministry of Health
of Russia, 121552, Russia, Moscow, Rublevskoe shosse, 135; Physician of Ultrasound Diagnostics, Department of Ultrasound and Functional Diagnostics,
Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia,
117997, Russia, Moscow, Academician Oparin str., 4, rmgasanova@bakulev.ru https://orcid.org/0000-0003-3318-1074
Anna S. Bolshakova, Geneticist at the Department of Clinical Genetics, Institute of Reproductive Genetics, Academician V.I. Kulakov National Medical Research Center
for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia, +7(909)982-27-99, genetic2014@yandex.ru, 117997, Russia, Moscow, Academician Oparin str., 4.
Olga V. Marzoeva, MD, PhD, Doctor of Ultrasound Diagnostics, Researcher at the Perinatal Cardiology Center, A.N. Bakulev National Medical Research Center of Cardiovascular Surgery, Ministry of Health of Russia, +7(495)414-78-75, ovmarzoeva@bakulev.ru, https://orcid.org/0000-0003-4475-0105,
121552, Russia, Moscow, Rublevskoe shosse, 135.
Elena V. Sypchenko, MD, PhD, Doctor of Ultrasound Diagnostics at the Perinatal Cardiology Center, A.N. Bakulev National Medical Research Center of Cardiovascular Surgery, Ministry of Health of Russia, +7(495)414-78-75, evsypchenko@bakulev.ru, https://orcid.org/0000-0002-8809-7913, 121552, Russia, Moscow, Rublevskoe shosse, 135.
Alexander I. Gus, Dr. Med. Sci., Professor, Chief Researcher at of the Department of Ultrasound and Functional Diagnostics, Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia, a_gus@oparina4.ru, https://orcid.org//0000-0003-1377-3128,
117997, Russia, Moscow, Academician Oparin str., 4.
Corresponding author: Tamara A. Yarygina, tayarygina@bakulev.ru

Authors' contributions: Yarygina T.A., Gasanova R.M., Gus A.I. – concept and design of the investigation; Yarygina T.A., Bolshakova A.S., Marzoeva O.V., Sypchenko E.V. – writing the text, material collection and processing; Gasanova R.M., Gus A.I. – editing.
Conflicts of interest: The authors declare that there are no conflicts of interest.
Funding: The investigation has been conducted within the framework of applied research topic АААА-А 20-120032390073-8.
Patient Consent for Publication: The patient provided informed consent for the publication of her data and associated images.
For citation: Yarygina T.A., Gasanova R.M., Bolshakova A.S., Marzoeva O.V.,
Sypchenko E.V., Gus A.I. Cardiac pathology in cases of monozygotic twins
with chromosome 22 deletion syndrome (22q11DS).
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2022; 6: 140-151 (in Russian)
https://dx.doi.org/10.18565/aig.2022.6.140-151

Cardiac pathology in cases of monozygotic twins with chromosome 22 deletion syndrome (22q11DS)

Yarygina T.A., Gasanova R.M., Bolshakova A.S., Marzoeva O.V., Sypchenko E.V., Gus A.I.

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