Hot Topic Flashcards

PAGE

1
Q

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

A

3%

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2
Q

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

A

3-5%

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3
Q

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

A

8.5%

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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%

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5
Q

How many fetus- parent trios where anaylsed

A

596

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6
Q

what test did the page participants have before recruitment

A

QF-PCR and array - negative results for both

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