Reframing Trisomy 13 and 18 Care: Moving Beyond the Myth of "Incompatibility With Life" in a South African and Low-and Middle-Income Country Context.

Abstract

Trisomy 13 (T13) and trisomy 18 (T18) have historically been described as "lethal" or "incompatible with life," contributing to diagnosis-based limitations of care. Contemporary evidence demonstrates greater heterogeneity in survival and outcomes than previously recognized, including among selected children receiving intensive care or cardiac surgery. Parental perspectives further challenge assumptions that quality of life and benefit can be inferred from diagnosis alone. This Commentary draws on contemporary evidence and multidisciplinary stakeholder discussions convened in Johannesburg in August 2025 to consider the implications for South Africa and comparable resource-constrained settings. South African pathways are shaped by inequities between public and private healthcare, uneven access to prenatal screening and diagnosis, limited specialist capacity, variable referral and care coordination, and the absence of nationally standardized T13/T18-specific guidance. Published local evidence on survival, intervention and family experiences remains limited. We argue that T13/T18 should be approached as medically complex and potentially life-limiting conditions requiring transparent, individualized and proportionate decision-making rather than predetermined non-intervention. Priorities include strengthened professional training, coordinated multidisciplinary referral pathways, balanced counselling and shared decision-making, integration of palliative care alongside disease-directed care, regional centers of expertise, improved data generation, rights-aligned governance and contextually appropriate adaptation of international guidance.