Routing algorithm for newborns with suspect of congenital and hereditary diseases.

The article shows that one of the most effective options for early diagnosis of hereditary diseases that are amenable to pathogenetic therapy is mass screening of newborns. The aim of the study: to develop an algorithm for routing newborns with suspected congenital and hereditary diseases. Research methods: analytical, mathematical and statistical. Research base. This study was conducted at the State Budgetary Healthcare Institution «Morozovskaya Children’s City Clinical Hospital of the Moscow City Health Department». Results. According to the proposed algorithm, all newborns after birth are conditionally divided into groups depending on the results of mass screening. Newborns whose NS and RNS results do not go beyond the reference values are classified as «conditionally healthy» and do not require additional diagnostic measures and observations, but their standard medical care is continued within the primary health care system. Newborns whose screening results have abnormal values that go beyond the reference values are classified as «risk group» for which a repeated collection of biomaterial (retest) is provided in order to clarify the existing deviations. Data on the effectiveness of neonatal screening in Moscow for 2023 are provided. Discussion. According to our results obtained a year earlier, based on the analysis of the primary screening, 5.14% of newborns from the total number of those examined were included in the risk group for hereditary diseases. As a result, the prevalence of false-positive cases in the risk group was 98.2%, which has a significant impact on the workload of the healthcare system. At the same time, the main organizational problems include underestimation of the risk of false-positive results in premature babies and low-birth-weight newborns, early blood sampling, and errors in the transportation of biomaterials. Conclusions. The proposed algorithm ensures continuity and systematic monitoring of newborns for the purpose of early detection and timely intervention in congenital and hereditary diseases.