Overview
Edwards' syndrome, also known as trisomy 18, is a rare genetic condition caused by the presence of an extra copy of chromosome 18. This additional genetic material disrupts normal development, leading to various medical challenges.
Causes
- Extra copy of chromosome 18 in every cell
- Occurs randomly during cell division in early development
- Not inherited from parents in most cases
- Risk increases with maternal age
Common Features
Physical Characteristics
- Low birth weight
- Small, abnormally shaped head
- Small jaw and mouth
- Clenched fists with overlapping fingers
- Foot abnormalities
- Low-set ears
Medical Issues
- Heart defects (in ~90% of cases)
- Breathing difficulties
- Feeding problems
- Developmental delays
- Kidney problems
- Growth restrictions
Diagnosis
Prenatal Testing
- Non-invasive prenatal testing (NIPT)
- Ultrasound screening
- Amniocentesis
- Chorionic villus sampling (CVS)
After Birth
- Physical examination
- Blood tests for chromosome analysis
Prognosis and Life Expectancy
- Condition is considered life-limiting
- Many babies don't survive pregnancy
- Of those born alive:
- 50% live beyond first week
- 5-10% survive beyond first year
- Small number reach childhood
Support and Management
Medical Care
- Specialized medical team
- Regular health monitoring
- Treatment of specific symptoms
- Pain management when needed
Family Support
- Genetic counseling
- Support groups
- Psychological support
- Social services assistance
Research and Resources
- Ongoing clinical studies
- Support organizations
- Educational materials
- Family networking opportunities