Genetics of Congenital Heart Defects and Diagnostic Approaches

Congenital heart defects constitute a high percentage of congenital malformations. After presenting a hypothesis concerning the multifactorial etiology of these disorders، the importance of genetic susceptibility in congenital heart defects has been highlighted. In this regard، various genetic tests are under investigation in research laboratories and clinics. This article introduces some of the most common diagnostic genetic tests that are currently used in clinical diagnosis of congenital heart defects. These techniques are divided into two categories، modern molecular techniques such as Q-PCR and MLPA، and cytomolecular techniques such as FISH and Array-CGH that are used to identify loci and genes associated with congenital heart defects. Considering the role of the new technique of NGS in determining the genetic causes of diseases، the diagnosis and treatment of many diseases with unexplained genetic causes would tremendously change. In this manuscript، we discussed new diagnostic tests that can be used used in detecting the genetic causes of several common congenital heart defects or chromosomal microdeletion syndromes such as Di George، William - Bern، Noonan، etc. This article provides good information on the proper use of genetic tests for the medical community، especially cardiologists، obstetricians، and gynecologists and might help them to make appropriate decisions in prevention and treatment approaches.