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