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Internal Grant Competition DGC





Congenital heart defects - the importance of prenatal screening
Project IdSGS03_2021
Main solverdoc. Ing. Hana Tomášková, Ph.D.
Period1/2021 - 12/2021
ProviderSpecifický VŠ výzkum
Statesolved
AnotationCongenital heart defects (CHD) are the most common morphological defects in the human population. Their incidence is reported in a wide range of 2-75 cases per 1000 live births. Approximately one third of CHD are significant or critical defects. These defects are detectable in the fetus during pregnancy. CHD screening is usually performed during the second trimester, if a defect is found, it is necessary to investigate extracardiac and genetic pathologies. Parents are informed about the nature of the defect and possible solutions and decide on the continuation or termination of pregnancy. Prenatal screening for CHD thus significantly affects the incidence of heart defects in the population. The etiology of CHD is complex, genetic and environmental factors play a role. In 20-25% of CHD today, we can identify a genetic cause and non-hereditary risk factors are known that can cause or potentiate the development of cardiac pathology. We can focus on risk factors already before pregnancy and during prenatal care. These include risk factors of family, mother, fetus and pregnancy. In their presence, the family can be offered an earlier examination, examination of the fetal heart by a specialist and genetic consultation.