Incidence analysis of six diseases in the national newborn screening program: a retrospective study from Adıyaman, Turkiye (2019-2023)

Aims: This study aimed to determine the incidence of diseases included in the national newborn screening program in Adıyaman, Turkey, over the past five years and to evaluate the relative status of Adıyaman compared to national and global data. The study also sought to identify potential risk factors based on demographic variables. Methods: A retrospective, descriptive study was conducted in Adıyaman, Southeastern Turkey, analyzing heel blood sample data from 52,964 newborns between 2019 and 2023. The study excluded cases with unsuitable or retaken heel blood samples, partial biotinidase deficiency, and partial phenylalaninemia. Annual incidence rates were calculated based on confirmed diagnoses from relevant clinics. Results: The five-year incidence rates in Adıyaman were found to be higher than the national averages for phenylketonuria (1:2407), congenital hypothyroidism (1:582), biotinidase deficiency (1:481), cystic fibrosis (1:10593), congenital adrenal hyperplasia (1:5864), and spinal muscular atrophy (1:9489). No statistically significant differences were identified based on gender, birth weight, birth week, or maternal nationality, except for biotinidase deficiency, which was significantly higher in infants of Turkish mothers. Conclusion: The study highlights a higher incidence of screened diseases in Adıyaman than national averages, particularly biotinidase deficiency. Further research is recommended to investigate these findings and to address potential causes, such as consanguineous marriages.