Abstract
Congenital heart defects (CHD) are the most common inborn structural anomalies of infants. They are one of the main cause of child morbidity and mortality.
Estimated prevalence in newborns is 8/1 000 and affect almost one percent of world's population.Only 20 % of all CHD are caused by chromosomal aberrations and Mendelian diseases. Other genetics mechanisms of non-Mendelian diseases and syndromes are unknown.
According to our experience array CGH is the most suitable diagnostic tool for analysis patients with syndromic CHDs. CHDs are highly heterogenic group of disease exhibiting incomplete penetrance and variable expressivity.
Due to this, the diagnostics of CHDs requires multidisciplinary collaboration with data analysis by combination of molecular cytogenetic and molecular genetic methods.