Congenital abnormalities Flashcards
1
Q
When is it safest to do amniocentesis?
A
After 15wks.
2
Q
What is amniocentesis used to diagnose?
A
Chromosomal abnormalities.
Infections: CMV, toxo.
Inherited disorders: sickle cell, thalassaemia, CF.
3
Q
What is the miscarriage rate after amniocentesis?
A
1%.
4
Q
When can chorionic villus sampling be performed from?
A
11 weeks.
5
Q
What is chorionic villus sampling used for?
A
Chromosomal abnormalities.
Genetic conditions.
6
Q
How common are chromosomal abnormalities?
A
6:1000.
7
Q
What are the components of the down syndrome combined test?
A
Nuchal translucency scan.
Maternal age.
Blood tests: PAPP-A (low), beta-HCG (high).
8
Q
What is the window for doing the combined test?
A
11-13+6wks.
9
Q
What does the triple test look at?
A
Blood: AFP, hCG, oestriol.
Less accurate than combined though!
