Edwards Syndrome

Edwards syndrome, also known as Trisomy 18, is a rare genetic disorder caused by an extra copy of chromosome 18. This condition occurs when there is an error in cell division during the formation of reproductive cells or in early fetal development.

Causes and Risk Factors

The exact cause of Edwards syndrome is not known, but it is associated with advanced maternal age. Women over 35 years old have a higher risk of having a child with Trisomy 18. The condition can also occur in families with no history of genetic disorders.

Symptoms

Children born with Edwards syndrome often have severe and life-threatening medical problems, including:

• Low birth weight
• Small size
• Weak cry
• Poor feeding
• Slow growth
• Intellectual disability
• Physical abnormalities, such as:
  • Clubs feet
  • Overlapping fingers
  • Rocker-bottom feet
  • Small jaw
  • Cleft lip and palate
• Organ abnormalities, such as:
  • Heart defects
  • Kidney problems
  • Liver problems

Diagnosis

Edwards syndrome can be diagnosed during pregnancy through:

• Chorionic villus sampling (CVS)
• Amniocentesis
• Ultrasound
• MATERNAL SERUM SCREENING (MSS)

After birth, the diagnosis can be confirmed through:

• Physical examination
• Imaging tests, such as X-rays and ultrasound
• Chromosomal analysis (karyotype)

Treatments

Treatment for Edwards syndrome is usually focused on managing the child's symptoms and preventing complications. This may include:

• Surgery to repair heart defects, cleft lip and palate, and other physical abnormalities
• Medications to manage seizures, high blood pressure, and other medical conditions
• Physical therapy to improve mobility and strength
• Occupational therapy to develop daily living skills
• Pain management to ensure the child's comfort
• Hospice care to provide emotional and spiritual support for the family

Prognosis

The prognosis for children with Edwards syndrome is generally poor. Less than 10% of children born with Trisomy 18 survive beyond their first year, and most die within the first few weeks or months of life due to severe medical problems.

Support and Resources

Families affected by Edwards syndrome can find support and resources through:

• Genetic counseling
• Pediatric care teams
• Hospice organizations
• Online support groups and forums
• Non-profit organizations, such as the Trisomy 18 Foundation