Antenatal testing: Down's syndrome Flashcards

1
Q

What is now the recommended test for Down’s syndrome?

A

Combined test

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2
Q

When is the combined test carried out?

A

11-13+6 weeks

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3
Q

What does the combined test include?

A

Nuchal translucency measurement
Serum B-HCG
Pregnancy-associated plasma protein A (PAPP-A)

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4
Q

What is Down’s syndrome a result of?

A

Three copies of chromosome 21- Trisomy 21

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5
Q

What results from the combined test would indicate Down’s syndrome?

A

↑ HCG
↓ PAPP-A
Thickened nuchal translucency

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6
Q

What other test can be used to diagnose Down’s syndrome?

A

Quadruple test

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7
Q

When would the quadruple test be offered rather than the combined test?

A

If a women books later in her pregnancy

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8
Q

When is the quadruple test carried out?

A

Between 15 - 20 weeks

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9
Q

What does the quadruple test include?

A

Alpha-fetoprotein
Unconjugated oestriol
Human chorionic gonadotrophin
Inhibin A

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10
Q

What results from the quadruple test would indicate Down’s syndrome?

A

Decreased alpha-fetoprotein
Decreased unconjugated oestriol
Increased human chorionic gonadotrophin
Increased inhibin A

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11
Q

What type of tests are the combined test and the quadruple test?

A

Blood tests

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12
Q

What do both the combined and the quadruple test produce?

A

High chance or low chance result

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13
Q

If a woman has a high chance result, what will she then be offered?

A

A second screening test (NIPT)
Or
A diagnostic test

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14
Q

What are examples of diagnostic tests?

A

Chronic villous sampling
Amniocentesis

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15
Q

When can amniocentesis be carried out?

A

16 weeks onwards (not safe before then)

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16
Q

What is an amniocentesis test?

A

Removal of amniotic fluid using a fine needle under US

17
Q

What is the main risk associated with amniocentesis?

A

Miscarriage (1%)

18
Q

When can chronic villous sampling be carried out?

A

10-13 weeks

19
Q

What does chronic villous sampling involve?

A

Placenta sampled either transabdominally or transcervically using US

20
Q

What is the main risk of chronic villous sampling?

A

Miscarriage

21
Q

What does NIPT stand for?

A

Non-invasive prenatal testing

22
Q

What is tested for in NIPT?

A

Analyses small DNA fragments that circulate in the blood of a pregnant woman (cell free fetal DNA- cffDNA)

23
Q

What does cffDNA stand for?

A

cell free fetal DNA

24
Q

Is NIPT accuate?

A

sensitivity and specificity are very high for trisomy 21 (>99%)

25
Q

What can these tests also be used to diagnose?

A

Trisomy 13 and Trisomy 18

26
Q

What results from the combined test might suggest Trisomy 18 (Edward’s syndrome)

A

Drecreased HCG,
Decreased PAPP-A
Thickened nuchal translucency

27
Q

What results from the quadruple test might suggest Trisomy 18?

A

Decreased AFP
Decreased Unconjugated oestriol
Decreased bHCG
Normal inhibin A