Evolving medical and surgical management of infants with trisomy 18
John M Lorenz1, George E Hardart
1aDivision of Neonatology, College of Physicians and Surgeons, Columbia University bDivision of Pediatric Critical Care Medicine, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
Insights
Management of infants with trisomy 18 (Edwards syndrome) is shifting towards life-prolonging interventions. A collaborative, goal-directed approach, respecting parental rights, is recommended for individualized care plans.
Area of Science:
- Genetics and Developmental Biology
- Pediatric Medicine
- Bioethics
Background:
- Trisomy 18 (Edwards syndrome) historically had a poor prognosis, leading to non-interventionist approaches.
- Evolving medical understanding and ethical considerations are reshaping care strategies for affected infants.
Purpose of the Study:
- To review the changing management of trisomy 18 in infants and children.
- To examine the prognosis with and without medical intervention.
- To outline an approach for creating healthcare management plans for newborns with trisomy 18.
Main Methods:
- Literature review of evolving management strategies for trisomy 18.
- Analysis of factors influencing changes in care.
- Discussion of collaborative decision-making models.
Main Results:
- A trend exists from non-intervention towards life-prolonging management for trisomy 18.
- Prognosis for trisomy 18 may not be as dire as previously asserted; interventions may prolong life.
- Decision-making is shifting to a collaborative physician-parent model, respecting parental rights and subjective outcome judgments.
Conclusions:
- Rejecting life-prolonging goals for any infant with trisomy 18 is not justifiable.
- Management plans must be goal-directed, evaluating benefits and burdens of care options collaboratively between physicians and parents for each child.
Purpose Of Review:
To review the evolving management of infants/children with trisomy 18, the prognosis with and without medical intervention, the factors that have contributed to the evolving management strategies, and an approach to the formulation of healthcare management plans for newborns with trisomy 18.
Recent Findings:
There has been a trend from nonintervention for infants/children with trisomy 18 toward management to prolong life. It has become clear that the prognosis for infants/children with trisomy 18 is not as 'hopeless' as was once asserted. However, case series of patients with trisomy 18 managed with a goal of prolonging life are not adequate to evaluate the efficacy of these interventions. They are also not adequate to support the contention that they have no efficacy. In fact, anecdotal evidence and medical plausibility suggest that treatment can prolong life in some cases. This trend has been supported by a change in emphasis from a largely physician-directed model of medical decision-making to a collaborative model, which respects parents' rights to make healthcare decisions for their children and recognizes that judgments about outcomes are often subjective, and social networks, which support and advocate for children with trisomy 18 and their families. An approach to collaborative medical decision-making that is goal-directed is recommended.
Summary:
Healthcare management approaches or policies that reject out of hand the goal of prolonging the life of any infant/child with trisomy 18 are not defensible. Management plans should be goal-directed, based on the physician-parent evaluation of the benefits and burdens of care options for the individual child.
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