Spectrum of Congenital Anomalies Among Neonates With Trisomy 21 Born at Salmaniya Medical Complex, Bahrain: A Retrospective Review (2015-2020)

Background: Down syndrome (DS) is the most prevalent chromosomal disorder globally and is frequently associated with a complex spectrum of multisystem congenital malformations, including cardiovascular, gastrointestinal, endocrine, and hematological disorders. This study aimed to evaluate the clinical spectrum of congenital malformations among neonates with Trisomy 21 born at Salmaniya Medical Complex (SMC), the primary tertiary referral center in Bahrain. Methods: A retrospective descriptive study was conducted using total population sampling (census) of 110 infants with a confirmed diagnosis of DS registered in the iSeha electronic system over a five-year period (2015 to January 2020). Clinical data, including demographics, perinatal history, and multisystem comorbidities, were extracted and analyzed using SPSS version 29 (IBM Corp., Armonk, NY, USA). Results: The cohort consisted of 57.3% male population, with a mean maternal age of 35.47 ± 6.76 years. A significant proportion of the neonates (73.6%) required NICU admission, primarily due to congenital heart disease, poor weight gain, and hypoglycemia. Cardiovascular anomalies represented the most significant clinical burden (78.2%), with patent ductus arteriosus (22.7%) and atrioventricular septal defect (18.2%) being the most frequent. Gastrointestinal and hepatic findings were present in 17.3% of the cohort, most notably imperforate anus (4.5%) and duodenal atresia (3.6%), while neonatal jaundice affected 54.5% of the cohort. Hematological disorders were common, including polycythemia (23.6%) and thrombocytopenia (20.9%). Notably, acute myeloid leukemia (AML) was diagnosed in 4.5% of the cohort. Conclusion: Neonates with DS in Bahrain exhibit a high prevalence of multisystem congenital anomalies, with cardiovascular and hematological disorders being the most prominent. These findings underscore the critical need for structured, multidisciplinary neonatal screening and specialized care frameworks to optimize clinical outcomes and support parental counselling in the region.