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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.

How is it Detected?

  • 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.

BUT

  • 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.
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