Down's screening

Question 1

overall structure

Answer 1

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

Question 2

warm up with the principle of screening

Answer 2

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

Question 3

combined screening info

Answer 3

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

Question 4

when to offer quadruple test

Answer 4

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

Question 5

Quadruple test info

Answer 5

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

Question 6

Results & next steps

Answer 6

> 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

Question 7

associated conditions with Down’s

Answer 7

• 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

Question 8

average life expectancy Down’s

Answer 8

60 years

Question 9

management Down’s

Answer 9

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