Management and Treatment Approach for Edward's Syndrome (Trisomy 18)
The management of Edward's syndrome should focus on supportive care and palliative measures rather than aggressive interventions due to the high mortality rate and poor prognosis, with only 5-10% of affected children surviving beyond the first year of life. 1
Clinical Characteristics and Prognosis
- Trisomy 18 is the second most common autosomal trisomy after Down syndrome, with a live birth prevalence of approximately 1:6,000-1:8,000 1, 2
- The condition is characterized by multiple congenital anomalies, growth retardation, psychomotor delays, and intellectual disability 2
- Major causes of death include central apnea, cardiac failure due to congenital heart defects, respiratory insufficiency, aspiration, and upper airway obstruction 1
- 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 1, 2
- Children with mosaic or partial trisomy 18 have a higher life expectancy than those with full trisomy 18 2
Multidisciplinary Management Approach
- A coordinated multidisciplinary team is essential for managing the complex needs of patients with Edward's syndrome 3
- The team should include:
- Pediatricians for overall coordination of care 3
- Cardiologists for management of common cardiac anomalies 3, 4
- Orthopedic specialists for skeletal abnormalities 3
- Neurologists for seizure management, which can become refractory and require interventions such as vagus nerve stimulation in long-term survivors 4
- Respiratory specialists for airway management and respiratory support 5
Specific Management Considerations
Respiratory Management
- Airway management is particularly challenging in these patients 5
- Difficult mask ventilation and intubation are common critical events during anesthesia 5
- Upper airway obstruction should be investigated when full care is opted for by the family 1
- Respiratory support may be needed for central apnea and hypoventilation 1
Cardiac Care
- Cardiac evaluation and monitoring are essential as congenital heart defects are common 4
- Common cardiac defects include atrial septal defects, ventricular septal defects, and patent ductus arteriosus 4
- Decisions regarding cardiac surgical interventions should consider the overall prognosis and quality of life 1
Nutritional Support
- Feeding problems occur consistently and may require enteral nutrition 1
- Gastrostomy tube placement may be necessary for long-term nutritional support 4
Neurological Management
- Seizures may develop and require anti-epileptic medications 4
- For long-term survivors with refractory epilepsy, more advanced interventions like vagus nerve stimulation may be considered 4
Surgical Considerations
- Cancer screening for trisomy 18 is controversial given the poor prognosis and tendency to avoid surgery 2
- When surgery is considered, careful anesthetic management is crucial due to the high risk of airway complications 5
- Perioperative complications are common and include difficult mask ventilation, difficult intubation, and cardiopulmonary events 5
Genetic Counseling and Family Support
- Genetic counseling is essential for families, addressing the etiology, natural history, and recurrence risk 1
- The recurrence risk for a family with a child with full trisomy 18 is approximately 1% 1
- Prenatal diagnosis options should be discussed for future pregnancies 6
- Psychological support for families is crucial, especially given the high mortality rate and complex care needs 3
Palliative Care Considerations
- Given the poor prognosis, palliative care discussions should be initiated early 1
- Care decisions should be individualized based on the specific clinical presentation and family preferences 1
- For the small percentage of children who survive beyond infancy, ongoing health supervision should be diligent 1
- Growth parameters should be monitored using trisomy 18-specific growth curves for long-term survivors 4