Редкое сочетание синдрома агенезии легочного клапана, трисомии Х хромосомы и микроделеции 22 хромосомы плода у пациентки с кардиальной патологией. Обзор литературы и клиническое наблюдение

A rare combination of pulmonary valve agenesis syndrome, X chromosome trisomy, and fetal chromosome 22 microdeletion in a patient with cardiac pathology. Literature review and clinical observation

This article presents a rare clinical case of fetal heart disease- pulmonary artery valve agenesis, combined with chromosome 22 deletion syndrome and chromosome X trisomy, while the pregnant woman herself had a cardiac pathology. The rare clinical case presented in this publication highlights the importance of taking maternal risk factors into account when routing pregnant women for prenatal diagnosis. A significant increase in the effectiveness of early prenatal screening in detecting cases of CHD in the fetus can be achieved by referring pregnant women to expert echocardiography in the first trimester, especially in the presence of pathology from the cardiovascular system. As early as possible, the detection of cardiac malformations in the fetus provides an opportunity for a comprehensive examination, which must necessarily include an invasive genetic diagnosis. © 2024 Bakoulev National Medical Research Center for Cardiovascular Surgery. All rights reserved.