Summary about Disease
Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. It is associated with severe developmental delays and medical problems. Many affected individuals die before birth or within their first month of life.
Symptoms
Symptoms vary widely but often include:
Low birth weight
Small, abnormally shaped head (microcephaly)
Heart defects
Kidney problems
Facial abnormalities (small jaw, cleft lip/palate, low-set ears)
Clenched hands with overlapping fingers
Rocker-bottom feet
Skeletal abnormalities
Causes
Edwards syndrome is almost always caused by a genetic error during cell division. Normally, a person receives two copies of each chromosome, one from each parent. In Trisomy 18, a baby has three copies of chromosome 18 in each cell instead of the usual two. This excess genetic material disrupts normal development. In some cases, only some cells have the extra chromosome (mosaicism).
Medicine Used
There is no cure for Edwards syndrome, and treatment focuses on managing the symptoms and complications. Supportive care and medical interventions are tailored to the individual's specific needs. This can include:
Cardiac medications for heart defects
Nutritional support
Surgery for specific abnormalities (e.g., cleft lip/palate)
Physical and occupational therapy
Medications to manage seizures or other complications
Is Communicable
No. Edwards syndrome is a genetic disorder and is not communicable or contagious. It cannot be spread from person to person.
Precautions
Since Edwards syndrome is a genetic condition, there are no precautions to prevent it in an existing pregnancy. Genetic counseling and prenatal screening (e.g., amniocentesis, chorionic villus sampling) can help assess the risk of having a child with Edwards syndrome.
How long does an outbreak last?
Edwards Syndrome is not an infectious disease and does not have outbreaks. The condition is caused by genetics.
How is it diagnosed?
Edwards syndrome can be diagnosed during pregnancy through prenatal screening tests (blood tests and ultrasound) and diagnostic tests like amniocentesis or chorionic villus sampling (CVS). After birth, it is diagnosed through physical examination and chromosomal analysis (karyotype) of a blood sample.
Timeline of Symptoms
Prenatal: May be detected through prenatal screening with signs such as intrauterine growth restriction
At birth: Low birth weight, distinctive facial features, heart defects, clenched hands.
Infancy: Severe developmental delays, feeding difficulties, respiratory problems, frequent infections.
Childhood: Most children with Edwards syndrome do not survive beyond infancy or early childhood. Those who do continue to experience severe developmental and medical challenges.
Important Considerations
The prognosis for Edwards syndrome is generally poor.
Most babies with Edwards syndrome do not survive past their first year.
Individuals with mosaic Edwards syndrome may have a slightly better prognosis.
Parents of children with Edwards syndrome may benefit from support groups and genetic counseling.
Ethical considerations surrounding prenatal diagnosis and treatment options are important to discuss with healthcare professionals.