Edward's Syndrome
Trisomy 18
- Named after John H. Edwards, who discovered the syndrome in 1960
- A genetic condition that results from non disjunction during meiosis
Main symptoms for children born with Edwards Syndrome
By: Taraneh Shafiei
- Appear fragile/ weak
- heads are small
- cleft lip
- hands are clenched
- heart and kidney problems
- breathing problems
- curved spine
- mouths and jaws are small
Prognosis for someone born with Edwards Syndrome
- Usually die within their first year of life.
Average lifespan:
- 50% of children die within less than two months
- 90-95% die before their first birthday
- 5-10% survive their first year.
Has anyone seen a baby with any of these features?
Frequency
- Occurs around one in 6000 live births.
- Around 80% are female
Cause
- Genetic disorder caused by the extra 18th chromosome.
- 95% of children with Edwards Syndrome have 'Full Trisomies'
- 2% have 'Trans-locations' (only a portion of an extra chromosome)
- 3% have 'Mosaic Tristomies' (extra chromosome there, but not in every single one of the childs cells)
Wrap Up
- Edwards Syndrome was first discovered in the 1960s by John H. Edwards.
- Genetic disorder caused by an extra 18th chromosome.
- There are very obvious symptoms for Edwards Syndrome.
- Children born with Edwards Syndrome usually die within the first year of life.
- Edwards Syndrome occurs 1 in 6000 live births.
- Not inherited by the parents.
- No cure for Edwards Syndrome.
Facts
- In 2008-2009, there were 495 diagnoses of Edwards Syndrome in the U.S.
- Second most common syndrome after trisomy 21.
Can you cure or treat Edwards Syndrome?
- There is no cure or any treatments for Edwards Syndrome.
- Rarely if the child survives, the symptoms can be difficult to manage.
- Life- threatening issues: infections, and heart problems, may need to be fed through a feeding tube.
- Limb Abnormalities: if this affects the child, physiotherapy and occupational therapy is recommended.
- Symptoms that show if the child may have Edwards Syndrome
- Also can be detected before the child is born by doing different testings:
Direct Cause
- Alpha-fetal protein analysis
- Ultrasonography
Other ways to detect it:
If the women has a uncommonly large uterus
during the pregnancy, due to extra amniotic fluid.
- NOT recessive, dominate or sex linked
- Just an error in the cell division called non disjunction.
- results in abnormal amount of chromosomes.
Non Disjunction: failure of the paired chromosomes to separate during cell division. (gives abnormal amount of chromosomes)
- Can be detected before the birth of the child.
- Lack of Plasma Protein (PAPP-A)
- Mother will go through a testing that sees if she has enough PAPP-A.
How is it inherited?
- rarely inherited
- not caused by anything the parents have done.
Some factors that encourage it:
- Close family history of giving birth to an affected child: some of the next generation will carry the inherited gene on the X chromosome.
- Rising maternal age: after 30 years of age, the risk is increasingly high.