Background: There have been an increasing number of publications related to trisomy 18 associated with a shift in the philosophy of care. The objective of this review is to understand the scope of contemporary literature informing the care of children born alive with trisomy 18.
Methods: Included was peer-reviewed, primary literature in MEDLINE, Embase, CINAHL, Scopus, Web of Science, and Cochrane Library from 2012 to 2023 reporting outcomes of children born alive with trisomy 18. Data extraction involved descriptive statistics of the types of studies, and an inductive thematic analysis of the questions addressed by the studies.
Results: Of 4628 records identified, 229 met inclusion criteria. Key themes were organized around the domains: What is trisomy 18? What are the chances of survival with trisomy 18? What can be done to improve the chances of survival with trisomy 18? How do children with trisomy 18 die? Do surgical interventions provide a benefit? Are there non-surgical options? What knowledge is informing medical management? How is life described for children with trisomy 18? What are children with trisomy 18 like as babies and as they get older? What is life like for families caring for children with trisomy 18?
Conclusions: A sizeable number of publications grouped trisomy 18 with other syndromes. Relatively few showed the longitudinal evolution of medical issues associated with trisomy 18, nor did they unfold the clinical heterogeneity of this population. This review shows the limited knowledge base guiding decision-making and care for children born alive with trisomy 18.
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