genetics Flashcards
1
Q
where can you get tissue from to do a DNA or chromosome test on a baby
A
- placenta
- skin/uterine cells
2
Q
when does surgical termination need to happen
A
before 13 weeks
3
Q
is there a time limit of TOP
A
not if there is a risk of serious abnormality in the child or to the health of the mother
4
Q
what would happen if it was later than 13 weeks to terminate the pregnancy
A
induction
5
Q
how do you check the chromosome abnormalities
A
chromosome mircoarray
6
Q
good things about chromosome microarray
A
- high resolution
- technically easier
- rapid
7
Q
how can chromosome microarrays be problematic
A
- may find polymorphisms
- may be incidental findings
8
Q
what causes floppiness (low tone) in babies
A
- cortex
- spinal cord
- anterior horn cells/motor neurons
- neuromuscular junction
- muscles
9
Q
what are things you test for rapidly
A
- myotonic dystrophy
- spinal muscular atrophy
- prader-willi syndrome
