What is the management approach for a newborn diagnosed with trisomy 18 (Edwards syndrome)?

Management of Trisomy 18 (Edwards Syndrome) in Newborns

For a newborn diagnosed with trisomy 18, management should focus on individualized supportive care with early palliative care team involvement, while recognizing that selective surgical interventions for life-threatening anomalies can be considered in consultation with families who desire active treatment, as approximately 5-10% of children survive beyond the first year. 1, 2

Initial Postnatal Assessment and Stabilization

Immediate neonatal management requires:

• Supportive respiratory care including nasal CPAP for stabilization, avoiding aggressive resuscitation beyond mask ventilation and stimulation unless families explicitly request full intervention 3
• Comprehensive evaluation for major congenital anomalies, particularly cardiac defects (present in majority), renal anomalies, and upper airway obstruction which is more common than historically recognized 2, 4
• Assessment for feeding difficulties, which occur consistently and may require enteral nutrition via nasogastric or gastric tube 2, 3

Prognostic Counseling

Families must receive accurate survival data:

• Approximately 50% of infants survive beyond 1 week of life 2
• Only 5-10% survive beyond the first year, with children having mosaic or partial trisomy 18 demonstrating higher life expectancy than full trisomy 18 1, 2
• Major causes of death include central apnea, cardiac failure, respiratory insufficiency from hypoventilation or upper airway obstruction, and aspiration 2

The outdated labels of "incompatible with life" or "lethal" are no longer appropriate, as recent evidence demonstrates survival into adulthood is possible, particularly with mosaic forms 5, 6

Surgical Intervention Considerations

A paradigm shift has occurred regarding surgical management:

• Cardiac surgery for major defects (such as double outlet right ventricle, ventricular septal defects) has been performed successfully in selected cases in the USA and Europe 3
• Other life-threatening conditions like diaphragmatic hernia and bilateral choanal atresia have been successfully repaired 3
• Cancer screening remains controversial given poor overall prognosis and historical tendency to avoid surgery 1

Critical factors for considering active intervention include:

• Absence of immediately lethal malformations 3
• Stable parental relationship and secure socioeconomic status 3
• Informed parental consent after comprehensive counseling about expected morbidity and mortality 3

Palliative Care Integration

Early palliative care referral is essential but significantly underutilized:

• Only 16.7% of children in recent studies were referred to pediatric palliative care teams despite 50% having do-not-resuscitate orders 5
• Palliative care teams should be involved early to develop holistic advanced care plans addressing both patient and family needs 5
• This approach is crucial given the high morbidity, with most children requiring chronic medications, medical devices, and frequent hospitalizations (66.7% hospitalized in last year of life) 5

Ongoing Surveillance Requirements

For children who survive the neonatal period, diligent health supervision is mandatory:

• Multiple pediatric and specialist evaluations are required, particularly in the first 12 months 2
• Monitor for respiratory complications including pulmonary hypertension, upper airway obstruction, and aspiration risk 2, 3
• Screen for neurological, neoplastic, genitourinary, abdominal, otolaryngologic, and orthopedic complications that impact quality of life 4
• Address feeding problems consistently, as these occur in the majority and may require ongoing enteral nutrition 2, 3

Key Clinical Pitfalls

Avoid these common management errors:

• Do not assume all cases are uniformly lethal—mosaic and partial trisomy 18 have substantially better prognosis than full trisomy 18 1, 2
• Do not overlook upper airway obstruction as a treatable cause of respiratory distress when families opt for active care 2
• Do not delay palliative care referral until end-of-life—early involvement improves care planning and family support 5
• Do not perform unnecessary cesarean sections for undiagnosed trisomy 18, as this increases maternal morbidity without fetal benefit 7