Aneuploidy Flashcards
1
Q
Trisomy :
21
18
13
A
Down
Edward
Patau
2
Q
Levels in down synd:-
Beta hcg
Inhibin-A
PAPP-A
ALPHA FETOPROTEIN
ESTRIOL
A
Increase
Increase
Decrease
Decrease
Decrease
3
Q
Which is better marker of aneuploidy :-
Cystic hygroma / nuchal transparency
A
Cystic hygroma
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
5
Q
Sample Source for karyotyping
A
Chronic villi tissue
6
Q
Screening test of aneuploidy in T1 of preg
A
Dual test & Nuchal transluency
7
Q
Screening test of Aneuploidy during :-
1) T1
2) T2
A
• 11wks - 13 wks + 6d
• 15wks - 20 wks ( best 16 -18 wks )