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

Area of Science:

• Genetics
• Pediatrics
• Medical Research

Background:

• Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) are rare autosomal aneuploidies.
• These conditions present with severe congenital anomalies and high neonatal mortality.

Purpose of the Study:

• To describe clinical features, management, and outcomes of patients aged 0-18 with confirmed Trisomy 18 or Trisomy 13.
• To analyze survival data and identify factors influencing patient trajectories.

Main Methods:

• Retrospective review of hospital records for genetically confirmed T18 and T13 cases (ICD-10 Q91-Q92).
• Inclusion of patients aged 0-18 years diagnosed between January 2015 and December 2024.
• Kaplan-Meier survival analysis and log-rank tests for comparisons.

Main Results:

• 29 patients included: 23 with T18, 6 with T13.
• Cardiovascular anomalies were most frequent; overall mortality was high despite intensive care.
• Median survival: 90 days (T18) and 120 days (T13); >80% survived the first month, with steep decline thereafter.
• Deaths often due to cardiopulmonary issues or sepsis; no significant survival difference between T18 and T13 (p ≈ 0.3).

Conclusions:

• High early mortality in T18 and T13 is linked to congenital heart disease, respiratory issues, and infections.
• While prognosis is generally poor, some patients experience extended survival with diverse clinical courses.
• Multidisciplinary care, individualized decisions, and infection control are crucial for optimizing outcomes and family support.