Clinical-ethical approach to Trisomy 18: a disease incompatible with life?

Abstract

Introduction: Edwards syndrome, otherwise known as Trisomy 18, is a genetic disorder that can be characterized by multiple congenital multi-organ anomalies and is often considered a “life incompatible” disease, with a high percentage of pregnancies ending in miscarriage (spontaneous or induced) or the refusal at birth of possible treatments, even if some children with this condition live for several years. Objective: The purpose of this paper is to discuss the clinical ethics approach to trisomy 18 through the case of Angelica – which came to the attention of the healthcare professionals at the “A. Gemelli” Teaching Hospital in Rome in 2017 – a baby suffering from this pathology who, at present, reached the age of 4 years and 9 months. Results: The ethical-clinical approach was implemented from the time of prenatal diagnosis to the current followup, illustrating the interdisciplinary assessments that have been carried out over time in relation to the proportionality of possible treatment options, including invasive /intensive ones. Conclusions: Trisomy 18 can no longer be considered a disease “incompatible with life” and it is important an interdisciplinary evaluation both prenatal and postnatal that identifies step-by-step the clinically and ethically appropriate and proportionate possible treatments. Such treatments, even when invasive/intensive, are not necessarily configured as overtreatment, but as implementation of palliative care aimed at improving the quality of life of these children and facilitating their home management.