Liveborn children with trisomy 18: A retrospective review
Evelyn Armour1, Melissa J MacPherson2, Cheryl Mack1
1Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
Insights
Children with trisomy 18 can survive and thrive at home. This study shows some infants with trisomy 18, with medical support, can spend significant time at home, with some living into childhood.
Area of Science:
- Genetics
- Pediatrics
- Medical Research
Background:
- Historically, trisomy 18 was considered a lethal condition with no medical interventions.
- Contemporary understanding recognizes the possibility of survival, but with significant medical complexity and technological dependency.
- This highlights a shift in care paradigms for infants with trisomy 18.
Purpose of the Study:
- To describe the outcomes of a contemporary Canadian population-based cohort of liveborn children with trisomy 18.
- To analyze survival, technological dependency, and hospitalization patterns.
- To provide insights into the heterogeneity of clinical outcomes in trisomy 18.
Main Methods:
- Retrospective review of medical records for liveborn infants with complete trisomy 18 from January 2012 to December 2023 in Central/Northern Alberta.
- Abstraction of demographic and clinical data, focusing on factors influencing morbidity and mortality.
- Description of outcomes including technological dependency, hospital stay duration, and survival rates.
Main Results:
- 37 liveborn infants with complete trisomy 18 were identified.
- Nine infants were discharged home, all born at term with birthweight ≥1750 g.
- Four children remain alive, aged 6-9 years, with home medical technology support and considerable time spent at home.
Conclusions:
- Trisomy 18 presents a spectrum of clinical outcomes, not a uniformly lethal condition.
- With appropriate medical support and family care, some children with trisomy 18 can experience extended lives at home.
- This underscores the importance of individualized care plans and support for families managing complex medical needs.
Background:
Historically, children born alive with trisomy 18 were considered to have a lethal genetic condition such that no medical interventions were provided. While survival is now recognized to be possible, these children's lives include aspects of technological dependency, medical complexity, and neurodevelopmental disabilities.
Objectives:
The primary aim of this study was to describe the outcomes of a contemporary Canadian population-based cohort of children born alive with trisomy 18.
Methods:
A retrospective study was conducted to review the records of children born alive with trisomy 18 from January 2012 to December 2023 in Central/Northern Alberta. Demographic and clinical information were abstracted, including features reported in the literature associated with morbidity and mortality. Outcomes were described, including technological dependency, time spent in the hospital, and survival.
Results:
In total, 37 liveborn infants with complete trisomy 18 were identified. While most died in hospital following medical-surgical interventions and/or comfort-care palliation, nine were discharged home. All of these children had been born at term with a birthweight ≥1750 g. While they relied on medical technologies such as home oxygen and feeding tubes at the time of discharge, most were able to spend a considerable amount of time at home rather than being re-hospitalized. At the time of this review, four remain alive varying in age from 6 to 9 years.
Conclusions:
Trisomy 18 is not a homogeneous clinical condition. Some children may have their lives extended to spend their lives at home with their families.
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