The value of genetic analysis in the study of the nature of congenital malformations

Congenital malformations are the main cause of infant and child morbidity and mortality worldwide. Most congenital malformations are represented by non-syndromic forms, their etiology has not yet been studied. However, the latest genetic technologies have opened up new possibilities in the study of congenital malformations. The article presents latest achievements in the genetics of non-syndromic forms of congenital malformations. Genome-wide association study (GWAS) is an effective method for identifying gene variants associated with a predisposition to the congenital malformations; this method helps to identify correlations between single nucleotide polymorphism (SNP) and certain malformations. Numerous studies demonstrate that in addition to SNP the copy number variations (CNV) play an important role in the etiology of some birth defects (for example, congenital heart defects). It has been established that 5—10% of isolated congenital heart defects can be associated with rare CNV. Next-generation sequencing (NGS) is expected to play important role in the identification of birth defect etiology. The authors have obtained the first data on the genes involved in the development of malformations such as congenital heart defects, neural tube defects, facial clefts