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Obstetrics > Screening for Aneuploidy > Flashcards

Screening for Aneuploidy Flashcards

1
Q

What percentage of fetuses with aneuploidy have fetal cardiac defects

A

25- 40%

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2
Q

What is the risk of aneuploidy at age 40?

A

2%

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3
Q

What is the risk of aneuploidy at age 45?

A

10%

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4
Q

At what gestational age do you perform the first trimester screen?

A

11 - 14 weeks

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5
Q

At what gestational age do you perform the second trimester screen?

A

15 - 22 weeks

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6
Q

At what gestational age can you perform the maternal cell free cFDNA screen?

A

at greater than 10 weeks

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7
Q

What is the least effective way to screen for downsyndrome?

A

Ultrasound alone

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8
Q

True or false: the detection rate of Down syndrome using NT increases with advancing gestational age

A

False, 11 weeks is most accurate

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9
Q

What two serum markers are present on the first trimester sequential screen?

A

PAPP-A, HCG

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10
Q

What 3 serum markers are present on the second trimester triple screen?

A

AFP, hCG, Estriol

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11
Q

What 4 markers are present on the second trimester quadruple screen?

A

AFP, HCG. Estriol, Inhibin

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12
Q

What is the standard of care for screening in the second trimester?

A

Quadruple screen (AFP, BHCG, Estriol, Inhibin)

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13
Q

What pattern do you see on quad screens with a NTD present

A

High AFP

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14
Q

What pattern do you see on quad screens with Tri 21?

A

High BHCG, High Inhibin, Low AFP, Low Estriol

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15
Q

What pattern do you see on quad screen for Tri 18?

A

Low everything (BHCG, Inhibin, AFP, Estriol)

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16
Q

What testing strategy carries the highest detection rate for aneuploidy?

A

Integrated screen (first and second trimester serum screen) + NT length at 12 weeks

17
Q

What is the detection rate for Integrated screen alone without NT?

A

88%

18
Q

What is the detection rate for Integrated screen + NT

A

96%

19
Q

What is the detection rate of CfDNA for aneuploidy

A

> 98%

20
Q

What aneuploidy does CfDNA screen for?

A

21, 18, 13, X, Y

21
Q

what percent of cFDNA in maternal plasma is fetal?

A

3 - 13%

22
Q

What is the definition of low fetal fraction?

A

< 4 %

23
Q

how often does low fetal fraction occur?

A

1- 8 %

24
Q

True or false: Low fetal fraction is considered a positive screen and carries a increased risk of aneuploidy

A

True

25
Q

What are the two available diagnostic tests for Aneuploidy?

A

Chorionic villus sampling, amniocentesis

26
Q

At what gestational age can you perform chorionic villus sampling?

A

10 - 13 weeks GA

27
Q

What is the fetal loss rate for chorionic villus sampling?

A

1:455

28
Q

At what gestational age can you perform an amniocentesis?

A

15 - 20 weeks gestational age

29
Q

What is the fetal loss rate for amniocentesis?

A

1:900

Obstetrics (28 decks)

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