Liveborn children with trisomy 18: A scoping review.

Area of Science:

• Pediatric Genetics
• Medical Ethics
• Evidence-Based Medicine

Background:

• Increasing publications on trisomy 18 coincide with evolving care philosophies.
• Focus is on contemporary literature informing care for live-born infants with trisomy 18.

Purpose of the Study:

• To review the scope of current literature on the care of live-born children with trisomy 18.
• To identify knowledge gaps in medical management and support.

Main Methods:

• Systematic review of peer-reviewed literature (2012-2023) from major databases.
• Included 229 studies reporting outcomes for live-born children with trisomy 18.
• Employed descriptive statistics and inductive thematic analysis.

Main Results:

• Literature frequently groups trisomy 18 with other genetic syndromes.
• Limited data exists on the longitudinal progression of medical issues and clinical heterogeneity.
• Key themes explored survival, interventions, medical management, and quality of life.

Conclusions:

• The current knowledge base for decision-making in trisomy 18 care is limited.
• There's a need for more research detailing the long-term evolution and diverse presentations of trisomy 18.
• Enhanced understanding is crucial for improving care and support for affected children and families.