Survival in infants with trisomy 18, palliative care and ethical reflections: a single center considerations

Background: Trisomy 18 was once considered a fatal diagnosis due to the presence of cardiac and extracardiac lesions. However, with the increasing use of therapeutic management, 3% to 25% of infants with trisomy 18 may survive beyond their first year, depending on the interventions provided. Currently, there are no clear and widely accepted criteria to guide medical decisions for children with trisomy 18. This means that patients could often be at risk of either over-treatment or therapeutic abandonment. We aimed to explore the effectiveness of intensive and non-intensive treatments in enhancing the clinical burden of disease and survival of children with trisomy 18 syndrome Methods: a retrospective monocentric study in Bambino Gesù Children’s Hospital, IRCCS Rome, Italy. We enrolled all patients discharged from our hospital with genetic diagnosis of trisomy 18 between 2018 and 2023. Clinical data from birth were collected and categorized into two groups: those who received intensive treatment and those who underwent a palliative approach. Intensive treatment was defined as corrective heart surgery, use of invasive respiratory support, or at least one hospitalization in an intensive care unit. Survival probabilities at different age intervals were calculated, and the clinical burden of disease was assessed, taking into account device dependence, number of emergency department visits per year, and the daily intake of medications at home Results: 32 patients were enrolled. Children with a low device dependence had significantly higher survival(p= 0,01). Neither palliative nor corrective heart surgery affected survival for patients with major cardiac defects. Conversely in children with minor heart defects surgery significantly increased survival probability(p= 0.01), particularly the corrective approach(p= 0.01). High number of emergency department visits(p=0.03) and high number of drugs taken daily(p=0.02) significantly reduced survival. No significant differences emerged between the two groups in terms of burden of disease. Conclusions: proportional to the initial clinical conditions all treatment options, which may include both comfort care and heart surgery, should be re-evaluated to determine the approach that prioritizes the best interest of each child with trisomy 18.