Birth Defects Flashcards
What birth defects has the highest occurrence?
congenital heart defects
What is the name of the multisystem disease caused by a single gene mutation, that is primarily an eye disorder?
axenfield-rieger syndrome
What is mutated in axenfield rieger?
PTIX2 and FOXC1
What is holopresencephaly?
incomplete division of forebrain into right and left hemispheres
what causes holopresencephaly
MANY things
- chromosome abnormalities
- environmental factors - maternal diabetes
- single gene mutations - SHH pathway
…just to name a few
What are three common effects of rubella infection during pregnancy?
- microcephaly
- patent ductus arteriosus
- cataracts
T/F: Dosage and duration of a drug during pregnancy don’t matter, the effects are always the same
NO0O0O0O false
What are two proposed mechanisms of action for thalidomide?
- may interact with angiogenesis
2. may induce oxidative stress
What is a teratogen?
agent that causes a birth defect
Thalidomide is linked to what defect?
limb defects - phocomelia
When is the most sensitive period for inducing birth defects ?
3-8 wks of embryogenesis
-most organ systems are starting to develop
What is the leading cause of congenital mental retardation?
alcohol
What are some defects associated with fetal alcohol syndrome?
microcephaly
indistinct philtrum
narrow upper lip
low nose bridge
taking antidepressants during pregnancy has a low risk associated with what birth defect?
septal heart defects
congenital heart defects are associated with what?
laterality defects
