Edward's Syndrome -Trisomy 18

By Tamara Foster

Genetic Transmission

There are three types of the Edward's Syndrome or Trisomy 18. Trisomy 18(Edward Syndrome) can not be inherited, but occur during the formation of eggs and sperm.Trisomy 18 happens when there is an error in the cell division called nondisjunction, this results in a reproductive cell with an abnormal number of chromosomes. This will mean that the child will have an extra chromosome 18 in each of the body's cell. Second is Mosaic trisomy 18 can also not be inherited; it occurs during cell division early in embryonic development. Mosaic trisomy 18 is a result when the body's cells have the usual two copies of chromosome 18, and the other cells have three copies of this chromosomes.Last but not least, Partial trisomy 18 CAN be inherited; this is when an unaffected person carries a rearrangement of genetic material between chromosome 18 and another chromosome. The rearrangement is called balanced translocation because there is no room for chromosome 18. Even though they do not have signs of trisomy 18 the people who carry the balanced translocation are at an increased risk of having children with this condition.

Symptoms Of Edward's Syndrome

Some symptoms of Edward's syndrome before birth can be, slow growth rate before birth and low birth weight. The signs of Edward's syndrome after birth are shown below.

Physical signs:

1) small, abnormally shaped head

2) small jaw and mouth

3) Long finger that overlap, with short fingernails and clenched fists

4) low-set ears

5) smooth 'rocker bottom' feet

Babies with Edward's syndrome typically have:

1) heart and kidney

2) feeding problems in infancy

3) hernias in the wall of their tummy ( where internal tissues push through a weakness in the muscle wall)

4) bone abnormalities, such as a curved spine

5) frequent infections of the lungs and urinary system

Examples of Edward's Syndrome

How is the disorder diagnosed? How often does it occur and is it rare or common?

1) The Edward's syndrome diagnosis can be detected prior to the birth through testing. The testing includes maternal serum alpha-fetal protein analysis or screening, amniocentesis, and ultrasonography. Woman who are pregnant with a child might have uncommonly large uterus during the pregnancy because of the extra amniotic fluid. Although this is one way another way is through a physical examination of the infant. Here can show the arched-type fingerprint patterns.

2) The Edward's syndrome is the second common, after the trisomy 21 (Down Syndrome). With that said the Edward's syndrome affects around 1 in 3,000,-5,000 live births, and the chances increases with the age of the mother.

Life Expectancy and Treatments

Babies with Edward's syndrome are sadly miscarried or stillborn. There is a third of the babies that are born but die within a month of birth, because of life-threating medical problems. Even though with that said there is a 5-10% of babies that live beyond one year, and will live with severe disabilities. Those that have mosaic and partial forms often survive to adulthood with few medical issues. Sadly there is still no cure for the Edward's syndrome the most that can be done is physiotherapy and occupational therapy, if limb abnormalities affect movements.

Intreseting Facts

1) Approximately ninety to ninety-five percent of children die prior to their first birthday.

2) Children who live past the first year of birth require walking support and their ability to learn is limited.

3) Only 5% chance of survival up to 1 year of age is present.

4) Parents who have had a child with Edward's syndrome are at an increased risk of having another child with the syndrome.

5) Website with stories on parents who had children with Edward's syndrome- http://aheartbreakingchoice.net/category/diagnoses/t18/

Work Cited

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