La Bioetica sul campo: una sfida per il neonatologo e il pediatra

Abstract

The communication of a genetic disease or malformation syndrome diagnosis regards the relationship between the medical staff and the family of the affected newborn or child. It should be considered as any other clinical, diagnostic or therapeutic procedure. It has the aim of supporting the patient and their family in dealing with the consequen- ces of the pathology. At the same time it provides updated clinical information regar- ding the clinical condition as well as short and long-term functional prognosis and recur- rence risk in the couple. A miscommunication of diagnosis may cause distrust and aver- sion towards healthcare providers and may negatively interfere with the ability to accept the disease and to adapt to the new situation, even more if it concerns rare and com- plex pathologies with limited life expectancies. In the last 20 years, an increase in the number of such patients has been observed also in relation to their higher survival beyond the neonatal period, which is due to the improvement and implementation of treatments and technological tools for the support of vital functions. In these cases, the decision whether or not to initiate life support treatments may raise complex bioethical issues. The application of the ethical principles such as justice and loyalty and sharing decision-making with the family are central issues of the care path. Even in cases of in- curable diseases, a global management of the child and their family needs to be carried out and to include the adoption of palliative care with the aim of relieving pain. The pa- per collects clinical experiences related with the communication of poor prognosis con- ditions and aims to provide technical and ethical indications that are useful for paedia- tricians to address and improve the management of highly complex patients.