Genetics - Edward's Syndrome Flashcards
1
Q
Definition
A
Trisomy 18
- full, mosaic (just in some cells) and partial
- 1/8000
2
Q
Signs
A
- Low-set ears
- Micrognathia
- Microcephaly
- Overlapping 4th and 5th fingers
- Rocked bottomed feet
- Congenital heart disease
3
Q
Management
A
It is rare for children to survive more than a few months of age
4
Q
Risk factors
A
Increased maternal age
Paternal age increase ?
5
Q
Screening
A
CVS - chronic villous sampling from placenta (early less than 15 weeks)
Amniocentesis - from amniotic fluids (>15 weeks)
Combined test - 10-14 weeks
Quadruple test: (HE is low)
- AFP: Unchanged
- Estriol: Low
- hCG: Low
- Inhibin A: Unchanged
6
Q
Complications
A
ASVD
