Reproductive Genetics 2 Flashcards

Describe principles of genetic carrier testing.

1
Q

What are the principles of prenatal screening and diagnosis?

A
  • Natural history of disorder is well characterized and causes early death and/or severe impairment
  • Carrier frequency high enough to warrant testing
  • Test should be technically and clinically validated
  • Reasonable genotype/phenotype correlation
  • Interventions should be available
How well did you know this?
1
Not at all
2
3
4
5
Perfectly