Optimization of ways to provide medical and genetic assistance to families with congenital malformations and hereditary pathology in the population of the Republic of North Ossetia-Alania

Abstract

In the Republic North Ossetia-Alania (RNO-A), a generalized analysis of data from epidemiological monitoring of congenital malformations, neonatal screening and genetic-epidemiological research of the population of the republic at the hereditary orphan diseases was carried out. The total frequency of congenital malformations of mandatory accounting in RNO-A is higher than the frequency in the regions of the Russian Federation. Based on the results of a study of newborn bloodspot screening data, allelic heterogeneity was identified for phenylketonuria and cystic fibrosis, as well as locus heterogeneity for congenital adrenal hyperplasia. The population of RNO-A is distinguished by a special spectrum of hereditary orphan diseases caused by rare genetic mutations, some of which are extremely rare in other regions of the world and in Russia.