Impacts of surgical interventions on the long-term outcomes in individuals with trisomy 18

Area of Science:

• Medical research
• Pediatric surgery
• Genetics and rare diseases

Background:

• Trisomy 18 (T18) is a severe genetic disorder associated with significant morbidity and mortality.
• The role of surgical interventions in improving long-term outcomes for individuals with T18 remains unclear.
• Congenital anomalies, particularly heart defects, are common in T18 patients, often necessitating medical and surgical consideration.

Purpose of the Study:

• To investigate the impact of surgical interventions on long-term survival and homecare achievement in individuals with trisomy 18.
• To compare outcomes between T18 patients who received surgical treatment versus those who received conservative management.

Main Methods:

• Retrospective analysis of 69 individuals with trisomy 18 admitted to four tertiary neonatal centers (2003-2017).
• Patients were categorized into two groups: those undergoing surgical interventions (cardiac, digestive) and those receiving conservative treatment.
• Comparison of survival rates and rates of achieving homecare between the two groups, with Cox hazard analysis for prognostic factors.

Main Results:

• No significant difference in survival rates was observed between the surgical and conservative treatment groups (p=0.26).
• Surgical interventions were associated with a significantly higher rate of achieving homecare (p=0.02).
• Prenatal diagnosis, cardiac surgery, and digestive surgery were identified as factors related to achieving homecare.

Conclusions:

• Aggressive surgical interventions in trisomy 18 patients do not enhance long-term survival.
• Surgical interventions may positively influence the ability of individuals with trisomy 18 to achieve homecare.
• Further research is warranted to delineate the specific benefits and risks of surgical approaches in this population.