Hot Topic

Question 1

What proportion of pregnancies show a fatal structural anomaly on ultrasound?

Answer 1

3%

Question 2

Microarray analysis detects chromosome imbalance in how many foetuses with structural anomalies?

Answer 2

3-5%

Question 3

What was the diagnostic yield of the PAGE study for potentially pathogenic variants overall

Answer 3

8.5%

Question 4

The diagnosis yield was higher for specific sub groups. Name those groups and give the diagnostic yield

Answer 4

> Multisystem anomalies - 15%
Cardiac anomalies - 11%
Skeletal anomalies - 15%

Question 5

How many fetus- parent trios where anaylsed

Answer 5

596

Question 6

what test did the page participants have before recruitment

Answer 6

QF-PCR and array - negative results for both