Lorenz John M, Hardart George E
aDivision 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.
Curr Opin Pediatr. 2014 Apr;26(2):169-76. doi: 10.1097/MOP.0000000000000076.
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.
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.
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.
综述目的：回顾18三体综合征患儿不断发展的治疗管理情况、有无医学干预时的预后、促成治疗管理策略不断演变的因素，以及为18三体综合征新生儿制定医疗管理计划的方法。
近期研究结果：对于18三体综合征患儿的治疗管理，已出现从不予干预到延长生命的趋势。现已明确，18三体综合征患儿的预后并非如过去所宣称的那样“毫无希望”。然而，以延长生命为目标进行治疗管理的18三体综合征患者病例系列，不足以评估这些干预措施的疗效。它们也不足以支持这些干预措施无效的观点。事实上，轶事证据和医学合理性表明，在某些情况下治疗可以延长生命。这一趋势得到了以下方面的支持：从主要由医生主导的医疗决策模式转向协作模式，这种模式尊重父母为子女做出医疗决策的权利，并认识到对结果的判断往往是主观的；还有支持和倡导18三体综合征患儿及其家庭的社会网络。建议采用以目标为导向的协作医疗决策方法。
总结：一概拒绝延长任何18三体综合征患儿生命这一目标的医疗管理方法或政策是站不住脚的。管理计划应以目标为导向，基于医生和家长对针对个体患儿的护理方案的益处和负担的评估。
