Management options and parental voice in the treatment of trisomy 13 and 18

Abstract

Trisomy 13 and 18 are rare genetic conditions associated with high rates of congenital anomalies, universal profound neurocognitive deficits, and early death, commonly in the first month after birth. Historically, efforts were made to keep these newborns comfortable, but parents were generally not offered medical or surgical interventions. This practice has begun to change in some hospitals, but remains controversial, and a clear consensus between and even within institutions does not appear to exist. This essay presents a summary of current data and an ethical analysis of the question of whether medical and surgical interventions should be offered to parents of newborns with trisomy 13 or 18. While compelling arguments can be found on both sides, it is here suggested that informed parents should be given a stronger voice in these decisions than has traditionally been the case. In an effort to improve clarity and consistency within single institutions, a process for developing an institutional guideline for management of patients with these, or similar, conditions is presented.

Hirschsprung disease with Edward syndrome: A rare association: A case report

“…ES was previously thought to be lethal and incompatible with life, and medical therapies to prolong life were barely provided. However, many children with this condition are surviving much longer, with reports of individuals living for more than a decade, provided proper medical and surgical interventions, albeit with a wide range of disabilities [ 14 ]. This bleak evidence has provided the parents with a hope to provide all the possible treatment to their offspring.…”

Management of Children with the Trisomy 18 and Trisomy 13 Syndromes: Is there a Shift in the Paradigm of Care?

“…In this context, authors have even used the designation, "denial of treatment" 3 and terms including "lethal" and "incompatible with life" in reference to the two syndromes that are commonplace in the discourse. [2][3][4] These cited publications and others mentioned below suggest that there has been a recent increase in the administration of interventions such as ventilatory support and surgery in the management of children with trisomy 18 and 13. Lorenz and Hardart 1 enumerate the factors that have spurred this proposed shift, including improvements in treatment, the emergence of parent support groups, the role of social networks, and the disability advocacy movement as influences in the trend.…”

“…trisomy 18 and 13. [1][2][3] The traditional view toward care in infants with the trisomy 18 and 13 syndromes has been to recommend pure comfort care and the avoidance of technological interventions. (It is important to underscore that "pure comfort care" as overseen by current perinatal and pediatric palliative care teams is not a passive approach to care but is an active goal-directed regimen of support for parents and child.)…”

“…In fact, I would suggest that this worldview seems to be the conventional wisdom and embedded in the culture of the specialties. The recent papers by Lorenz and Hardart, 1 Pyle et al, 2 Silberberg et al, 3 and Mc Caffrey 5 provide different perspectives on the care issues and advocate for more balanced and inclusive approaches. A recent trend that likely plays a major role in a changing view toward management of infants with the two conditions is the current literature recommending shared decision making in the care of individuals with trisomy 13 and 18 prenatally and postnatally 21,22 .…”

Management of apnea in infants with trisomy 18

“…However, applying medical and surgical interventions for infants with trisomy 18 has been shown to assist their long‐term survival . Therefore, there is an ongoing debate concerning the extent of appropriate interventions for infants with trisomy 18 …”