Trisomy 18 and Trisomy 13: A Retrospective Cohort Study at a Tertiary Hospital

Abstract

Highlights: What are the Main Findings? Children with Trisomy 18 and Trisomy 13 exhibited very high mortality rates, particularly within the first six months of life, with severe cardiac anomalies and nosocomial infections being the leading causes of death. Survival analysis showed no statistically significant difference between Trisomy 18 and Trisomy 13, indicating that prognosis is influenced more by individual clinical factors than by trisomy type alone. A small but notable subgroup of patients survived for months to years, demonstrating that clinical trajectories are heterogeneous rather than uniformly fatal. What is the Implication of the Main Finding? These findings challenge the traditional view that Trisomy 18 and Trisomy 13 are universally incompatible with life. Clinical management should move away from a uniform palliative approach toward individualized, multidisciplinary decision-making based on disease severity and comorbidity burden. Early infection prevention, careful cardiopulmonary management, and family-centered ethical counseling may improve survival and quality of care in selected patients. Background: Trisomy 18 (T18; Edwards syndrome) and Trisomy 13 (T13; Patau syndrome) are rare autosomal aneuploidies characterized by severe congenital anomalies, high neonatal mortality, and complex clinical trajectories. Objective: This study aimed to describe the clinical features, management approaches, and outcomes of genetically confirmed patients aged 0–18 years diagnosed with T18 or T13 in a tertiary care center. Methods: This retrospective study reviewed hospital records of genetically confirmed T18 and T13 cases identified through ICD-10 codes (Q91–Q92) between January 2015 and December 2024. Patients aged 0–18 years at diagnosis were included. Demographic, clinical, and interventional data were collected from electronic medical records. Survival analyses were conducted using the Kaplan–Meier method, with comparisons assessed using the log-rank test. Results: Among 29 patients, 23 had T18 and 6 had T13. Cardiovascular involvement was the most frequent anomaly, and overall mortality was high despite intensive care. Median survival was 90 days for T18 and 120 days for T13, with more than 80% surviving the first month but showing a steep decline thereafter. Most deaths were attributed to cardiopulmonary complications or sepsis secondary to prolonged intensive care. Kaplan–Meier analysis revealed marked early mortality in both groups, with no significant survival difference (log-rank p ≈ 0.3). A small subset demonstrated longer-term survival with heterogeneous clinical courses. Conclusions: T18 and T13 are associated with high early mortality driven by complex congenital heart disease, respiratory instability, and infection-related complications. Although the overall prognosis remains poor, a minority of patients achieve extended survival, highlighting variable trajectories. Early multidisciplinary care, individualized decision-making, and strict infection prevention remain essential to optimize outcomes and support families.