Fetal anamolies Flashcards
1
Q
choroid plexus cyst
A
but at 20 weeks normal findin
- do not damage brain or affect way brain works.
- not tumor or type of cancer.
- Although not cause problems,
- when a cyst is seen during pregnancy it raises concern about a small risk (less than 1%) for a condition called trisomy 18.
2
Q
cystic hyroma
A
turner syndrome
3
Q
Patau’s Syndrome = Trisomy 13
Characterised by:
A
- CNS, renal and cardiac abnormalities
- low IQ
- polydactyly
- rockerbottom feet
Rare to survive beyond infancy
4
Q
Edwards Syndrome = Trisomy 18
Characterised by:
A
prominent occiput microcephaly overlapping fingers rockerbottom feet cardiac defects
Rare to survive beyond infancy
5
Q
Down’s Syndrome = Trisomy 21
Causes of Down’s:
A
non-disjunction: 94%
Robertson translocation: 5%
mosaicism: 1%
6
Q
Risk of Downs with age of mother:
A
30 yrs: 1/1000
35 yrs: 1/350
40 yrs: 1/100
45 yrs: 1/30
7
Q
The characteristics of patients with Down’s are varible but include:
A
microgenia (=small chin) macroglossia epicanthic folds of eyes short neck single palmar crease flat nasal bridge low IQ short stature
8
Q
Associations with Down’s include:
A
duodenal atresia Hirschsprungs disease AV septal defects (40%) ventricular septal defects (30%) atrial septal defects (10%) PDA/tetralogy of fallot Brushfield spots (=white spots on iris)
9
Q
Later complications include:
A
ALL
atlantoaxial instability
hypothyroidism
