Y2 ARC- Antenatal results and choices Flashcards

1
Q

How many women access ARC support every year?

A

6500 women

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2
Q

What does ARC involve?

A

NIPT
Screening results
Diagnosis
ToPFA

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3
Q

What is the most import ant part of effective care?

A

Communication

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4
Q

What additional tests are done in pregnancy?

A

1st trim- CUBS (combined ultrasound and biomedical screening)
2nd trim- AFP/hCH/UE3?InhA screening
NIPT as second line screening
Routine anomaly scan at 20w.

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5
Q

It is super important to let everyone know that all of these screening tests are completely volontary.

A

TRUE

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6
Q

NIPT

A

Non-Invasive prenatal testing, checks babys blood cells in maternal bloodstream and is 99 % accurate.

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7
Q

What is the risk in % for CVS and Amniocentesis?

A

0.5%

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8
Q

Pregnancy screening

A

1st trim: Family origin questionnaire and haemoglobinopathy screen < 12 weeks.
11+2-14+1 Common trisomy’s
2nd trim: 14+2- 20+0 (Downs syndrome)
Fetal anomaly scan 18-20 weeks.

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9
Q

How common are T13, T18 and T21

A
Down syndrome (trisomy 21)
1 in 1000 live births

Edwards syndrome (trisomy 18)1 in 3000 live births

Patau syndrome (trisomy 13)
1 in 5,000 live births
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10
Q

Are these Sporadic/inherited

A

Most cases are sporadic
Some are due to unbalanced translocation
-Whole chromosome trisomy (Robertsonian translocation)
-Partial chromosome trisomy (reciprocal translocation)
A few due to mosaicism

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11
Q

Prenatal invasive tests

A

Chorionic Villus Sample/Amniocentesis
QF-PCR
Microarray
Targeted test for known genetic conditions

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