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6 Cards in this Set

  • Front
  • Back
Pregnancy options for any NTD
-whole termination (for testing afterwards)
-pregnancy management
-psych preparation of mother
-postnatal care
-preconceptional medications and supplements (folic acid for NTD)
Folic acid
cereals breads, etc,

facial cleft

heart defects

leukemia
Future pregnancies: NTD detection
high res ultrasound

AFP

CVS/amniocentesis(only amnio for other reasons than genetic?)
mtDNA genetics features
-maternal inheritance
-heteroplasmy
-replicative segregation
-threshold expression
-high mutation rate
mtDNA features: threshold expression
-certain tissues are more sensitive to mito. effects(but all affected)

-order:
brain>heart>muscle >kidney>endocrine
Leigh's syndrome
-opthalmoplegia
-ataxia
-hypotonia
-dystonia
-developmental delay & regression