W31/L6: Prenatal testing Flashcards Preview

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Flashcards in W31/L6: Prenatal testing Deck (13)
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1
Q

What information can we get from 1st trimester combined screening?

A

T21

T18

2
Q

What information can we get from 2nd trimester screening?

A

T21
T18
Neural tube defect

3
Q

What are the components of 1st trimester screening?

A

Blood test at 10 weeks

US at 12 weeks

4
Q

What are the components of 2nd trimester screening?

A

Blood test at ~16 weeks

5
Q

What are the two modes of fetal cell sampling?

A

CVS

Amniocentesis

6
Q

At what age do we normally do CVS?

A

11 weeks

7
Q

At what age do we normally do amniocentesis?

A

15-16 weeks

8
Q

What’s the name of the rapid detection test for T21?

A

FISH

Fluorescence in situ hybridisation

9
Q

Why is classical analysis (karyotyping) slower to get results?

A

It requires dividing cells

10
Q

What’s the term for the short arm of a chromosome?

A

p (“petite”)

11
Q

What’s the term for the long arm of a chromosome?

A

q

12
Q

What’s an acrocentric chromosome?

A

One where the p arm is very small and contains little coding information

13
Q

What’s a Robertsonian translocation?

A

Translocation between two acrocentric chromosomes