Down's screening Flashcards
overall structure
principle of screening
combined test
quadruple (when Pat & Ed)
results interpretation & moving forward
debrief on Down’s (symptoms, life expectancy, Mx, happy lives)
warm up with the principle of screening
not mandatory (opt in) or definitive but can provide useful info that may lead to further important decisions
combined screening info
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
when to offer quadruple test
maternal choice
NT not visible in combined test // late booker
Quadruple test info
14+2 -19+6w
Down’s only (anomaly can ID Ed/Pat features)
less accurate (80%)
four blood tests (bHCG, PAPP-A, inhibin, E3)
Results & next steps
> 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
associated conditions with Down’s
- 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
average life expectancy Down’s
60 years
management Down’s
- surgical repair (CHD, GI, cataracts)
- other meds: laxatives, thyroxine, hearing aids, grommets, anti-epileptics
- MDT –> SALT, physio, teaching support