Caring Intensely for Trisomy 18 Newborns, but Limiting 'Intensive Management' - An Ethical Justification for Palliative Care by Marta C. Kolthoff, MD

摘要

Trisomy 18 is a rare but classic genetic disorder that occurs in approximately 1 in 8000 live births. Trisomy 18 is no longer an esoteric disease but one with modern relevance given rapidly changing approaches in medical and surgical management. Once provided comfort-measures only, babies with Trisomy 18 are beginning to be managed intensively – with full cardio-respiratory support and surgical correction of birth defects. In particular, Japan has moved from a non-intervention approach to a consistent, national intensive approach for babies with Trisomy 18. This paper investigates the outcomes of this intensive approach in order to determine an ethically-acceptable standard of care for babies with Trisomy 18. Review of the Japanese medical literature shows that intensive management of babies with Trisomy 18 results in the prolongation of short-term life without an associated increase in long-term survival or cure. Standard quality of life measures are not improved, and significant concern remains regarding treatment-associated pain and suffering. Cardiac surgery increases the risk of post-operative sudden death and is not associated with an increase in long-term survival. udThis paper argues that the risk/benefit ratio for cardiac surgery is unacceptably high; therefore, such surgery should not be performed on babies with Trisomy 18. It argues that, given families’ access to prominent news stories regarding Trisomy 18 babies and reports of this Japanese experience, families need to be counseled clearly and effectively about the evidence-based outcomes of intensive management. A “child-centered” approach that seeks to minimize the child’s suffering should be utilized with the goals of all treatment, including any intensive treatment, clear to all decision-making parties. Employing a Best-Interests Standard to guide decision-making supports a standard of care for neonates with Trisomy 18 that does not include cardiac surgery and that ensures provision of perinatal/neonatal palliative care. The paper argues that palliative care should be offered as the first option to families who receive a diagnosis of Trisomy 18. These conclusions have implications for U.S. hospital policy and clinician practice. ud