Advances in care and management of infants and children with trisomy 13 and trisomy 18: A paradigm shift

Trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) have historically been regarded as “uniformly lethal” or “incompatible with life,” leading to the longstanding practice of withholding resuscitation and surgical intervention. However, accumulating evidence indicates that survival is more heterogeneous than previously recognized, and advances in neonatal and surgical care have improved outcomes. Among long-term survivors, gradual yet meaningful developmental progress has been observed, and parental reports describe affected children as happy and deeply valued members of their families. These findings have reshaped clinical and ethical perspectives, fostering a paradigm shift from uniform non-intervention toward individualized, family-centered decision-making. In parallel, the widespread adoption of noninvasive prenatal screening (NIPS) has markedly increased prenatal detection, further complicating perinatal counseling and underscoring the need for ethically consistent care. This narrative review summarizes current and evolving evidence on survival and treatment outcomes for trisomy 18 and trisomy 13 and synthesizes contemporary approaches to comprehensive care from the neonatal period through childhood. Within this evolving landscape, we propose a practical framework for counseling and iterative shared decision-making with families. Integrating accurate and up-to-date medical information with family perspectives is essential to provide compassionate, balanced, and equitable care for infants with these syndromes and their families.