Evolving medical and surgical management of infants with trisomy 18

Curr Opin Pediatr. 2014 Apr;26(2):169-76. doi: 10.1097/MOP.0000000000000076.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 18
  • Decision Making
  • Female
  • Health Knowledge, Attitudes, Practice
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Parents / psychology*
  • Practice Guidelines as Topic
  • Prognosis
  • Quality of Life*
  • Social Support
  • Trisomy 18 Syndrome
  • Trisomy*