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


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Abstract

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.

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About the authors

Tamara A. Yarygina

A.N. Bakulev National Medical Research Center of Cardiovascular Surgery, Ministry of Health of Russia

Email: tayarygina@bakulev.ru
MD, PhD, specialist of ultrasound diagnostics, researcher at the Perinatal Cardiology Center

Rena M. Gasanova

A.N. Bakulev National Medical Research Center of Cardiovascular Surgery, Ministry of Health of Russia; Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: rmgasanova@bakulev.ru
MD, PhD, Head of the Perinatal Cardiology Center

Anna S. Bolshakova

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: genetic20i4@yandex.ru
Geneticist at the Department of Clinical Genetics, Institute of Reproductive Genetics

Olga V. Marzoeva

A.N. Bakulev National Medical Research Center of Cardiovascular Surgery, Ministry of Health of Russia

Email: ovmarzoeva@bakulev.ru
MD, PhD, Doctor of Ultrasound Diagnostics, Researcher at the Perinatal Cardiology Center

Elena V. Sypchenko

A.N. Bakulev National Medical Research Center of Cardiovascular Surgery, Ministry of Health of Russia

Email: evsypchenko@bakulev.ru
MD, PhD, Doctor of Ultrasound Diagnostics at the Perinatal Cardiology Center

Alexander I. Gus

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: a_gus@oparina4.ru
Dr. Med. Sci., Professor, Chief Researcher at of the Department of Ultrasound and Functional Diagnostics

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