https://doi.org/10.4081/mem.2022.1208
Clinical-ethical approach to Trisomy 18: a disease incompatible with life?
All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Authors
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.
How to Cite
PAGEPress has chosen to apply the Creative Commons Attribution NonCommercial 4.0 International License (CC BY-NC 4.0) to all manuscripts to be published.
An Open Access Publication is one that meets the following two conditions:
- the author(s) and copyright holder(s) grant(s) to all users a free, irrevocable, worldwide, perpetual right of access to, and a license to copy, use, distribute, transmit and display the work publicly and to make and distribute derivative works, in any digital medium for any responsible purpose, subject to proper attribution of authorship, as well as the right to make small numbers of printed copies for their personal use.
- a complete version of the work and all supplemental materials, including a copy of the permission as stated above, in a suitable standard electronic format is deposited immediately upon initial publication in at least one online repository that is supported by an academic institution, scholarly society, government agency, or other well-established organization that seeks to enable open access, unrestricted distribution, interoperability, and long-term archiving.
Authors who publish with this journal agree to the following terms:
- Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
- Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
- Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.