Down syndrome Flashcards
1
Q
Incidence
A
1/600
2
Q
Genotypes
A
Non-disjunction(trisomy 21)
Translocation
Mosaicism
3
Q
Leukemia
A
(X20) AML (M7)
4
Q
30 y
A
1/800
5
Q
35y
A
1/300
6
Q
40
A
1/100
7
Q
45
A
1/20
8
Q
First trimester 10 – 13 wks
A
1- Pregnancy – associated plasma protein (PAPP-A): ↓
2- Free HCG
3- Nuchal translucency (US) 85%
9
Q
First trimester screening
A
10-13 w
10
Q
Invasive first trimester
A
Chorionic villous sampling
11
Q
Second trimester
A
1- Triple test
2- Quadriple test
3- Detailed Us (3D)
12
Q
Second tri
A
15-20
13
Q
invasive 2nd
A
Amniocentesis