Edwards syndrome

Definition

Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of an extra 18th chromosome. This condition leads to severe developmental and physical abnormalities, significantly impacting the overall health and survival of affected individuals. Many children with Edwards syndrome exhibit a range of symptoms, including heart defects, growth delays, and distinctive facial features, ultimately influencing their quality of life and life expectancy.

5 Must Know Facts For Your Next Test

1. Edwards syndrome occurs in approximately 1 in every 5,000 live births, but many affected pregnancies result in miscarriage or stillbirth.
2. Infants with Edwards syndrome often have severe health complications, including heart defects, kidney problems, and feeding difficulties.
3. The condition is associated with a very low survival rate; many infants do not survive past their first year of life.
4. A distinctive feature of Edwards syndrome is the presence of clenched fists and overlapping fingers, which can be observed at birth.
5. While there is no cure for Edwards syndrome, early interventions and supportive care can help manage some symptoms and improve quality of life.

Review Questions

• Discuss the primary symptoms and challenges faced by individuals diagnosed with Edwards syndrome.
  • Individuals with Edwards syndrome commonly face a multitude of symptoms such as severe developmental delays, congenital heart defects, and growth restrictions. They may also have distinct physical features like a small head, clenched fists, and low-set ears. These challenges significantly impact their overall health and require ongoing medical support and intervention throughout their lives.
• Evaluate the genetic mechanisms that lead to the development of Edwards syndrome and its implications for prenatal diagnosis.
  • Edwards syndrome is primarily caused by the presence of an extra 18th chromosome due to nondisjunction during cell division. This genetic anomaly can be detected through prenatal screening methods such as chorionic villus sampling (CVS) or amniocentesis. Understanding the underlying mechanisms allows healthcare professionals to provide accurate counseling and support for expecting parents considering their options after diagnosis.
• Analyze the ethical considerations surrounding prenatal testing for Edwards syndrome and the potential impacts on families.
  • Prenatal testing for Edwards syndrome raises several ethical considerations, including the potential for decisions regarding pregnancy continuation based on test results. Families may face emotional turmoil when dealing with the knowledge of a diagnosis that often indicates severe health challenges and a low likelihood of survival. This situation necessitates sensitive genetic counseling to help families navigate their options while considering both medical facts and personal values.

Related terms

Trisomy:

A chromosomal abnormality characterized by the presence of an extra chromosome in the cells, leading to developmental issues and various syndromes.

Chromosomal Abnormalities: Alterations in chromosome number or structure that can lead to genetic disorders, such as Down syndrome or Turner syndrome.

Genetic Counseling: A process that provides information and support to individuals or families at risk for genetic disorders, helping them understand their options and the implications of genetic conditions.