213 - Reproductive Genetics Flashcards Preview

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Flashcards in 213 - Reproductive Genetics Deck (4)
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1

List 3 methods of invasive prenatal dianosis

  • Chorionic villus sampling
    • aka placental biopsy
    • 10 to 13+6 weeks
       
  • Amniocentesis
    • Sample of amniotic fluid
    • 15 weeks or later
  • Chordocentesis
    • Sample of fetal blood from the umbilical cord
    • Not commonly used

 

 

2

Which method of invasive prenatal dianosis can be done in the first trimester?

Which can be done in the seconds?

  • 1st = chorionic villus sampling
  • 2nd = Amniocentesis

 

3

List 4 prenatal screening tests that should be offered to a 39 year old pregnant person

  • Carrier screening
  • Cell-free DNA
    • Detect trisomy 21, 18, 13
  • MSAFP 
    • Detect neural tube defect
  • Ultrasound exam
    • Structural malformations

Does not need cell free DNA if planning to undergo diangostic testing

 

4

Which types of genomic array technology will detect trisomy 21 on amniocentesis?

Array CGH

SNP-array

 

However, neither method can distinguish between 3 separate copies of chromosome 21 vs. unbalanced translocation - requires visualization of the chromosome (metaphase karyotype)