Genetics Flashcards
1
Q
when is Down’s syndrome screened for in pregnancy?
A
offered at booking
screened for at 11 weeks
2
Q
what chromosome abnormality is Down’s?
A
chromosome 21
3
Q
why is foetal DNA found in the maternal serum?
A
placenta drops DNA into the serum
4
Q
what chromosome is Patau?
A
13
5
Q
when can surgical termination of pregnancy not be done?
A
after 13 weeks
6
Q
when is there no time limit of TOP?
A
serious abnormality of the child or health risk to mother
7
Q
what is anencephaly?
A
portion of the skull is missing
1-day survival
8
Q
what chromosome is Edward’s syndrome?
A
18
9
Q
causes of floppy baby? (hypotonia)
A
myotonic dystrophy
spinal muscular dystrophy
Prader-Willi
