Down's screening Flashcards

1
Q

overall structure

A

principle of screening
combined test
quadruple (when Pat & Ed)
results interpretation & moving forward
debrief on Down’s (symptoms, life expectancy, Mx, happy lives)

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2
Q

warm up with the principle of screening

A

not mandatory (opt in) or definitive but can provide useful info that may lead to further important decisions

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3
Q

combined screening info

A

Down’s, Edward’s, Patau’s
10-13+6w by CRL
nuchal translucency on dating USS & b-hCG + PAPP-A on blood test

85% accurate

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4
Q

when to offer quadruple test

A

maternal choice
NT not visible in combined test // late booker

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5
Q

Quadruple test info

A

14+2 -19+6w
Down’s only (anomaly can ID Ed/Pat features)
less accurate (80%)
four blood tests (bHCG, PAPP-A, inhibin, E3)

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6
Q

Results & next steps

A

> 1/150 –> high chance
NIPT (placental DNA in blood) high sensitivity & specificity and if +ve then:
CVS (11-14w) or amniocentesis (15+ w)
LA + USS guided to take sample from placenta
1% miscarriage (CVS<11w –> limb abnormalities)
decide whether to continue or terminate

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7
Q

associated conditions with Down’s

A
  • characteristic facial appearance (big tongue, low set ears, flat nasal bridge etc)
  • learning difficulties
  • CHD, GI (constipation, atresia)
  • hearing & vision (hearing loss, middle ear infections, cataracts, squint)
  • hypothyroidism
  • seizures
  • bone problems (hip dislocations)
  • early-onset Alzheimer’s
  • leukaemia
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8
Q

average life expectancy Down’s

A

60 years

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9
Q

management Down’s

A
  • surgical repair (CHD, GI, cataracts)
  • other meds: laxatives, thyroxine, hearing aids, grommets, anti-epileptics
  • MDT –> SALT, physio, teaching support
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