Management and Treatment Approach for Edward's Syndrome (Trisomy 18)

Clinical Characteristics and Prognosis

Trisomy 18 is characterized by multiple congenital anomalies, growth retardation, psychomotor delays, and intellectual disability, with a live birth prevalence of approximately 1:6,000-1:8,000 1
Children with mosaic or partial trisomy 18 have a higher life expectancy than those with full trisomy 18 1, 2
Only 5-10% of affected children survive beyond the first year, with mortality highest in those with full trisomy 18 compared to mosaic or partial forms 2

Cancer screening for trisomy 18 is controversial given the poor prognosis and tendency to avoid surgery 1, 2, 3