Aneuploidy Flashcards

1
Q

Trisomy :
21
18
13

A

Down
Edward
Patau

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2
Q

Levels in down synd:-

Beta hcg

Inhibin-A

PAPP-A

ALPHA FETOPROTEIN

ESTRIOL

A

Increase

Increase

Decrease

Decrease

Decrease

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3
Q

Which is better marker of aneuploidy :-
Cystic hygroma / nuchal transparency

A

Cystic hygroma

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4
Q

Cystic hygroma on screening i.e. USG and no associated aneuploidy . What’s your next step & diagnosis?

A

Next step _ ECG
D/d _ hypoplastic left heart or cong. Heart disease

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5
Q

Sample Source for karyotyping

A

Chronic villi tissue

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6
Q

Screening test of aneuploidy in T1 of preg

A

Dual test & Nuchal transluency

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7
Q

Screening test of Aneuploidy during :-
1) T1

2) T2

A

• 11wks - 13 wks + 6d

• 15wks - 20 wks ( best 16 -18 wks )

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