Trisomy 18-when the diagnosis is compatible with life.

Area of Science:

• Genetics and Genetic Diseases
• Pediatric Medicine
• Chromosomal Abnormalities

Background:

• Trisomy 18 (Edwards syndrome) is a chromosomal disorder with significant morbidity and mortality.
• Increased survival rates necessitate a re-evaluation of treatment and management strategies.
• Outdated perceptions of trisomy 18 as 'incompatible with life' require revision.

Purpose of the Study:

• To characterize the clinical course and survival of pediatric patients with trisomy 18.
• To identify key comorbidities and healthcare needs in children with trisomy 18.
• To evaluate the utilization of pediatric palliative care services in trisomy 18 management.

Main Methods:

• Retrospective cohort study analyzing medical records of children with trisomy 18.
• Data collection included epidemiological features, clinical manifestations, and follow-up information.
• Study period spanned from 1995 to 2020 at a tertiary pediatric hospital.

Main Results:

• Six patients with trisomy 18 were identified, with 66.7% being female and 33.3% having mosaicism.
• All patients exhibited cardiovascular, cognitive, and physical development anomalies.
• Neurological anomalies and feeding difficulties were prevalent (66.7%); 16.7% were referred to palliative care.

Conclusions:

• Comprehensive knowledge of comorbidities and complex care requirements in trisomy 18 is essential.
• Ethical considerations arise in daily care and decisions regarding invasive treatments.
• Early integration of pediatric palliative care teams is vital for developing advanced care plans.