Prevalence and causes of false positive results in neonatal screening; Распространенность и причины ложноположительных результатов неонатального скрининга

Introduction. The article reviews the current organizational issues of the neonatal and extended neonatal screening program. Aim. The aim of the study was to assess the prevalence of false positive results of neonatal and extended neonatal screening program among newborns classified as at risk for various hereditary diseases, and to identify key factors contributing to their occurrence. Materials and Methods. The study included data analysis of 116,584 newborns screened in 2023. At the end of the initial screening, 5,996 infants (5.14% of the total number of those screened) were included in the risk group for hereditary diseases, but after retesting, the number of children in the risk group decreased to 1,062, while 107 children had a confirmed hereditary disease. Results and Discussion. According to the results, the prevalence of false positive cases in the at-risk group was 98.2%, which has a significant impact on the burden on the health care system. Major organizational problems include underestimation of the risk of false positives in premature and low birth weight infants, early blood collection, and biomaterial transport errors. Conclusions. Introducing stricter protocols for specimen collection and processing, as well as better informing parents about possible outcomes, may reduce false positive cases and, therefore, stress in families. This study underscores the need for revising organizational processes in implementing the neonatal and extended neonatal screening program to increase its efficiency, minimize costs, and improve communication between health care providers and patients’ families. © 2025 Elsevier B.V., All rights reserved.