Thesis:

Genetic abnormalities, congenital anomalies, clinical features, epidemiology,

Background: Genetic and congenital anomalies are among the leading causes of hospitalization, disability, and mortality in infants and children, accounting for a significant proportion of the global disease burden. In Iran, due to the high prevalence of consanguineous marriages and limited access to advanced genetic diagnostic services, the incidence of these disorders is reported to be higher than the global average. Accurate identification of the clinical and epidemiological characteristics of affected patients can play a crucial role in improving diagnosis, treatment, and preventive health planning. Accordingly, the present study was conducted to investigate the clinical and epidemiological features of hospitalized patients with genetic and congenital anomalies at Imam Khomeini Hospital in Esfarayen. Methods: This descriptive cross-sectional study examined all hospitalized patients diagnosed with genetic and congenital anomalies at Imam Khomeini Hospital, Esfarayen, from 2014 to 2024. Data were extracted from the Hospital Information System (HIS) using ICD-10 codes (Chapter Q00–Q99). After completion of the research checklists, data were analyzed using SPSS software version 22, employing descriptive statistics and simultaneous regression analysis. Results: A total of 290 patients with 417 genetic and congenital anomalies were analyzed. The highest frequencies were related to genitourinary, skeletal, and neonatal anomalies. A statistically significant association was observed between gender and type of anomaly (p<0.05), whereas no significant relationship was found between place of residence (urban or rural) and type of anomaly, nor between type of anomaly and discharge outcome. Approximately 40% of patients had underlying or comorbid conditions, the most common being inguinal hernia, transient tachypnea of the newborn, and neonatal jaundice. Conclusion: The findings of this study indicate that patients with genetic and congenital anomalies present a diverse pattern of disorders, and a considerable proportion are hospitalized with comorbid conditions. The significant association between gender and type of anomaly may reflect biological or genetic differences between males and females, while no relationship was found between residence, type of anomaly, or discharge outcomes. These results highlight the necessity for early detection, systematic surveillance, and evidence-based preventive and therapeutic interventions for patients with genetic anomalies at regional and national levels.

Keywords: Keywords: Genetic anomalies, Congenital malformations, Clinical characteristics, Epidemiology