Screening and Diagnostic tests Flashcards

1
Q

What trisomies do screening tests detect? (3)

A

21, 18 + 13

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2
Q

When are screening tests offered?

A

To all women at their booking visit

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3
Q

What is the recommended screening test in the UK?

A

Combined test

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4
Q

What does the combined screening test look for? (4)

A
  1. Nuchal transluscency (NT)
  2. hCG
  3. PAPP-A (pregnancy-associated plasma protein)
  4. women’s age
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5
Q

At what dates do you do the combined test? (2)

A

11 and 13 weeks + 6 days

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6
Q

What is good about the combined screening test? (2)

A

results available in the 1st trimester so allows surgical TOP.
it detects all aneuoploidies

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7
Q

What test is rarely used in the UK as it is expensive?

A

Integrated test

looks at:
1st trimester = NT + PAPP-A

2nd trimester = Quadruple test

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8
Q

What two tests are useful for women presenting in the second trimester?

A

Triple test and Quadruple test

15-20 weeks

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9
Q

What does the Triple test look for? (3)

A
AFP 
\+ 
unconjugated oestrodiol 
\+ 
hCG
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10
Q

What does the qaudruple test look for? (4)

A
AFP 
\+ 
Unconjugated oestrodiol 
\+ 
hCG 
\+ 
inhibin A
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11
Q

What does AFP screen?

A

Neural tube defects

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12
Q

At what weeks do you use an US to assess nuchal translucency?

A

11 - 13 weeks

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13
Q

When is nuchal transluscency raised?

A

in trisomy conditions
+
structural defects - congenital cardiac deformities

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14
Q

How can neural tube defects be picked up? (2)

A

on USS

or

by measuring AFP in the 2nd trimester

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15
Q

What does screening aim to identify

A

women at high risk (usually greater than 1 in 150) of a disorder:

higher risk diagnostic test can then be arranged

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16
Q

What are two types of diagnostic tests?

A
  1. Amniocentesis

2. Chorionic villous sampling

17
Q

When is Amniocentesis performed?

A

16 weeks

18
Q

What does amniocentesis involve?

what does it allow diagnosis of? (3)

A

removal of around 20ml of amniotic fluid using a fine gauge needle under US guidance.

Allows diagnosis of chromosomal abnormalities, NTDs and inborn errors of metabolism.

19
Q

When is chorionic villous sampling carried out?

A

10-13 weeks

20
Q

How is chorionic villous sampling done?

A

placenta is sampled by transabdominal or occoasionally transcervical approach under US