What is the prevalence of Edwards syndrome?

Edwards syndrome, also known as trisomy 18, is a rare genetic disorder caused by the presence of an extra copy of chromosome 18. It is named after John H. Edwards, who first described the syndrome in 1960. Edwards syndrome occurs in approximately 1 in every 5,000 live births, making it less common than Down syndrome.

Individuals with Edwards syndrome often experience severe developmental delays and have multiple physical abnormalities. These can include heart defects, clenched fists with overlapping fingers, low-set ears, small jaw, and a small head. The condition is associated with a high mortality rate, with many affected infants not surviving beyond the first year of life.

Due to the severity of the condition, Edwards syndrome is often detected during pregnancy through prenatal screening tests such as amniocentesis or chorionic villus sampling. However, it is important to note that these tests can only provide a diagnosis and cannot predict the severity of the symptoms.

While there is no cure for Edwards syndrome, treatment focuses on managing the individual symptoms and providing supportive care. This may involve surgical interventions for heart defects, feeding assistance, and physical therapy.

It is crucial for individuals and families affected by Edwards syndrome to receive comprehensive medical and emotional support. Genetic counseling can also be beneficial for families who may be at an increased risk of having a child with Edwards syndrome.