Down's Syndrome and screening Flashcards

1
Q

epidemiology?

A

incidence increases w increasing maternal age

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2
Q

pathology?

A

trisomy 21- commonly caused by non-dysunction at meiosis

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3
Q

who is offered screening?

A

all women- purpose is to decide which women need more invasive tests to confirm diagnosis

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4
Q

outline the screening tests for Down’s Syndrome (table)

A
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5
Q

following screening - what next?

A

screening tests put together provide a risk score- if risk greater than 1/150–> woman offered amniocentesis or chorionic villus sampling

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6
Q

what does CVS / amniocentesis allow?

A

a sample of foetus’ cells to be sent for karyotype

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7
Q

difference between CVS and amniocentesis?

A
  • CVS
    • US guided biopsy of placental tissue
    • used <15 weeks
  • amniocentesis
    • US guided aspiration of amniotic fluid
    • used later in pregnancy
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