Hot Topic Flashcards
PAGE
1
Q
What proportion of pregnancies show a fatal structural anomaly on ultrasound?
A
3%
2
Q
Microarray analysis detects chromosome imbalance in how many foetuses with structural anomalies?
A
3-5%
3
Q
What was the diagnostic yield of the PAGE study for potentially pathogenic variants overall
A
8.5%
4
Q
The diagnosis yield was higher for specific sub groups. Name those groups and give the diagnostic yield
A
> Multisystem anomalies - 15%
Cardiac anomalies - 11%
Skeletal anomalies - 15%
5
Q
How many fetus- parent trios where anaylsed
A
596
6
Q
what test did the page participants have before recruitment
A
QF-PCR and array - negative results for both
