Entre éthique et pratique : réflexions à propos de la prise en charge d’un enfant avec trisomie 18 (syndrome d’Edwards).

Trisomy 18, also known as Edwards syndrome, is the second most common autosomal trisomy. The phenotype includes dysmorphia, congenital malformations and severe neurological impairment. The most common malformation is congenital heart disease. With a median survival of 2 to 14.5 days, trisomy 18 has been historically considered as lethal and care has long been palliative. This approach was proposed to a little girl with postnatal diagnosis. Initially, the child's parents disagreed with the management strategy. After further discussions, the parents agreed on a therapeutic approach based on comfort care. Intensive care is, however, offered in selected patients in other countries. Multiple studies have recently shown that measures such as cardiac repair increase survival. Impact on quality of life remains, however, highly uncertain. The therapeutic orientation for these children remains the subject of ethical dilemma. A multitude of arguments are developed around the four fundamental principles of bioethics: autonomy, beneficence, nonmaleficence, and justice. Not only the choice of care (interventional or palliative) but also the person responsible for this decision are controversial.