Edwards Syndrome - Trisomy 18 - Riley Schotte

EDWARDS SYNDROME: Also known as: Trisomy 18, complete trisomy 18 syndrome and trisomy E syndrome. Approximately 1 in 5,000 live births suffer from Edwards syndrome. You cannot receive Edwards syndrome after birth, it is contracted as a fetus. Edwards syndrome is not prone to a particular society, but there is a higher chance of older women giving it to their new born.

Signs and Symptoms:

  • Small or abnormally shaped head,
  • Small jaw or mouth,
  • Overlapping fingers,
  • Undeveloped thumbs,
  • Low ears,
  • An exophalos,
  • Cleft lip and palate.
  • Heart and kidney problems,
  • Severe learning disability,
  • Breathing and feeding issues,
  • Bone abnormalities,
  • Frequent urinary and lung infections,
  • Hernias.
Image 1: https://goo.gl/jW99CD Image 2: goo.gl/bya6zn Image 3: https://goo.gl/YGzJYb
Genetics of Edwards Syndrome

Edwards syndrome is caused by a mutation within the formation of an egg and sperm cell. It is very rare for any type of inheritance to happen but it is proven to be possible. If a person has Edwards syndrome there is a high chance that their child will be born with it as well, sometimes in a more severe form. For Edwards syndrome to exist either the egg or a sperm cell must be carrying an extra chromosome 18, which is the cause of Edwards syndrome.

Chromosomal disorder: Edwards syndrome is a chromosomal disorder. It is caused by an extra chromosome 18 being put into the baby's cell. In about 5% of Edwards syndrome cases only 'some' of its cells will have an extra chromosome 18, this results in a serious case of Mosiac Trisomy. The severity of Mosaic Trisomy is decided by the different cells that have the extra chromosome and how many of them are affected. A normal person will only have 2 chromosome 18's in each cell, versus the children with Edwards syndrome 3. Due to Edwards syndrome being a case of Trisomy you cannot represent it as a pedigree chart or a punnet square.

A baby's physical abnormalities due to Edwards syndrome | Image 4: goo.gl/hZOxj0
Cures, Aids and Prognosis of Edwards Syndrome

Identifying the Disorder: Pregnant women screened for disorders between 10 and 14 weeks of pregnancy. During pregnancy stages between 18 and 21 weeks the mother is offered another scan for 11 rare conditions including Edwards syndrome. Blood tests and nuclel translucency ultra sounds may be undertaken during these scannings. If there is a high chance of the baby having Edwards syndrome the mother is once again offered a test, but this one will decide whether or not the baby has Edwards syndrome. Doctors confirm the baby having the syndrome by testing chorionic villus, sarphing and amniocentesis. There is a method to skip these tests yet get the same results by extracting some of the mothers blood which yields the baby's DNA, but this is only available through private healthcare. Children that are all ready born can receive a blood test to identify the extra chromosome if their mother did not receive these tests previously.

Prognosis: There is currently no cure for Edwards syndrome but the symptoms that come with it can lead children to be having a lot lf healthcare and specialist appointments. Treatment for the syndrome starts with the life threatening issues e.g. Infections, heart and lung problems. The children will require physiotherapist to combat their bodies abnormalities if they survive.

  • 50% Of children with Edwards syndrome live to 9 days,
  • 12% live to a year,
  • 10% live to 10 years of age,
  • And 36% of the children that survive to 30 days made it to a year.
  • It is difficult to predict the lifespan of a child with the threatening syndrome.

Aids: The parents of the child should attend genetic counselling where they will learn more about the results they receive and learn that there is a 1% chance of their next baby having Edwards syndrome. The children will have to go to occupational physiotherapy for their difficult to manage limb abnormalities and depending on the issues that appear a specialist will have to be involved.


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Britanica. (2017). Trisomy 18. Retrieved from http://school.eb.com.au/levels/high/article/trisomy-18/2474

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Genetics Home Reference PDF. (2017). Trisomy 18. Retrieved from https://ghr.nlm.nih.gov/condition/trisomy-18.pdf

NHS Choices. (2014, September 25). Edwards' syndrome. Retrieved from http://www.nhs.uk/conditions/edwards-syndrome/Pages/Introduction.aspx

Sangster, T. (2012, April 21). Caoimhes story(Edwards Syndrome) [Video file]. Retrieved from https://m.youtube.com/watch?v=qjuwCbtJQgY

Trisomy 18 Foundation. (2017). What is Trisomy 18? Retrieved from http://www.trisomy18.org/what-is-trisomy-18/

Created By
Riley Schotte

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