Transcript Edward`s Syndrome

Dania M. Jacob (12301016020)
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Edward’s syndromE
• Trisomy 18 is the second most
common trisomy and occurs when a
baby has three of the eighteenth
chromosome.
• It is this extra genetic material that
causes the problems associated with
Trisomy 18.
• Edward's syndrome affects around 1
in 3,000, but only 1 in 5,000 –
6,000 live births.
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causEs Edward’s
• Trisomy 18 is caused by a missdisjuncture during mitosis.
• Parents have done nothing before
or during pregnancy to cause this
disorder in their child.
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TypEs of Edward’s
• With each type, there is a range
of possibilities.
• Some children are medically fragile
while others thrive
• Some children walk while others
are confined to wheelchairs.
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TypEs of Edward’s
• Full Trisomy 18:
– The most common type of Trisomy
18 (occurring in about 95% of all
cases) is full Trisomy.
– With full Trisomy, the extra
chromosome occurs in every cell in
the baby's body.
– This type of trisomy is not
hereditary.
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TypEs of Edward’s
• Partial Trisomy 18:
– Partial trisomies are very rare. They
occur when only part of an extra
chromosome is present.
– Some partial Trisomy 18 syndromes
may be caused by hereditary factors.
– Affected people have two copies of
chromosome 18, plus a "partial" piece
of extra material from chromosome
18.
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Types of Edward’s
• Mosaic Trisomy 18:
– Mosaic trisomy is also very rare.
– It occurs when the extra chromosome
is present in some (but not all) of
the cells of the body.
– Mosaic Trisomy is not inherited and
is a random occurrence that takes
place during cell division
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characTErisTics of Edward’s
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Heart defects:
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Kidney problems
Part of the intestinal tract is outside the stomach
(omphalocele)
The esophagus doesn’t connect to the stomach (esophageal
artesia)
Excess amniotic fluid (polyhydramnios)
Clenched hands
Pocket of fluid on the brain (choroid plexus cysts)
Rocker bottom feet
Delayed growth
Small jaw (mycrognathia)
Small head (microcephaly)
Low-set ears
Strawberry-shaped head
Severe developmental delays
Umbilical or inguinal hernia
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– VSD (Ventricular Septal Defect): a hole between the lower chambers
– ASD (Atrial Septal Defect): a hole between the upper chambers
– Coarctation of the aorta: a narrowing of the exit vessel from the
heart
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characTErisTics of Edward’s
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TEsTing for Edward’s
• 18 – 20 week ultrasound anomaly
• Blood Tests
• Confirmed by Chorionic Villus
sampling (CVS)or amniocentesis
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Prognosis
• Most fetuses are miscarried or still
born
• 1/3 of babies die with in a month
• Only between 5% – 10% survive
beyond 1 year.
• Those with mosaic or partial
Edward’s can live to adulthood
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Annalisa Joni Lim
Mar 2004 – Oct 2007
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