After analyzing the Russia-wide Extended neonatal screening (ENS) system for hereditary and/or congenital diseases results it became necessary to change the ENS tasks ranking: the highest priority among them as yet is an increase in the congenital and/or hereditary diseases detection level and a decrease in the therapy initiation age. The results of an on-site audit conducted in 20 Russia regions in 2024 showed significant differences from the target indicators that in its turn had made it possible to determine the control points and roadmap operational procedures as necessary elements for the ENS system improvement with the purpose of medical care quality and safety monitoring in order to increase the congenital and/or hereditary pathology detection level, to reduce the time span from birth to the therapy initiation and to increase the effectiveness of patient treatment.
Read full abstract