Week 5 Flashcards
what is ACCEE used for
a method to check the effectiveness of a test
A in ACCEE
analytical validity - how well does the test measure what it is supposed to
C1 in ACCEE
clinical validity
ability for the test to detect the presented phenotype
C2 in ACCEE
clinical utility - does the test change health outcomes
E1 in ACCEE
ethical validity
E2 in ACCEE
economic - is it financially viable?
when is prenatal screening done
10-14 weeks
neonatal screening
within 72 hours of birth
and again at 6-8 weeks
morphology
body scan
what is foetal anomaly screening programme
biochemical analysis of maternal serum
by ultrasound
newborn blood spot
blood test that can identify nine rare diseases
non directive approach
shared decision making
issues in genetic counselling
consanguinity
childhood testing
why is consanguinity an issue
high genetic similarity increases risk of autosomal recessive disease
