Edwards Syndrome
Published on Nov 18, 2015
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PRESENTATION OUTLINE
Edwards Syndrome
Prevention & Treatment
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Edwards Syndrome
- Mechanisms of action
- Early detection - prevention/termination
- Treatment for symptoms
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about only 50% of infants live past one week
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ultrasounds
Soft and structural markers
choroid plexus cysts
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small for gestational age
Clenched Hands
rocker bottom feet
polyhydramnios
excess amniotic fluid
# of marker indications
multiple markers means diagnosis is necessary
MaternaL serum test
Triple test - three indicators
alpha-fetoprotein (AFP)
Immature liver cells in fetus - Low Levels
human chorionic gonadotropin (hcg)
syncytiotrophoblast (placenta covering) - Low Level
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Unconjugated estriol (uE3)
Placenta - type of estrogen - Low Levels
Widely offered and used
60% detection rate - 20% false-positive rate
diagnostics
Chorionic Villus Sampling and Amniocentesis
Chorionic villus sampling
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Sampling obtains cells of fetus
a full karyotype can be made
High levels of accuracy
98%-99%
with the detection, a preventative action can be taken
termination could be an option
Treatment - symptom relief
PALLIATIVE CARE - relieving/preventing suffering
Caesarean Delivery
too fragile or malformed for natural birth
respiratory problems
Mechanical ventilator
endotracheal tube in windpipe
feeding problems
links to respiratory - difficulties breathing, sucking, and swallowing
Infancy - NASOGASTRIC (through nostrils)
AFTER 8 MONTHS - GASTROTOMY
(THROUGH INCISION TO STOMACH)
scoliosis
orthopedic treatment
brace
prevent from getting worse
surgery - spinal fusion
cardiac problems
VENTRICULAR SEPTAL DEFECT and ATRIAL SEPTAL DEFECT
missing wall in between left and right ventricles/ATRIUMS of the heart
surgical procedure for large holes
missing wall in between left and right ventricles/ATRIUMS of the heart
surgical procedure for large holes
Gore-tex soft tissue patch
outreach communities
legacy stories, informational help
grief counselling
miscarriage, death of infant or child
