Question

1. Your new friend Angie is very excited to be 2 weeks pregnant and have a baby.  However, she’s also very nervous.  She tells you that her sister had two babies with spinal muscular atrophy type I (SMA1) (recessively inherited terminal condition, typically leading death by age 2).  She’s thinking about genetic testing, but doesn’t know who to test (herself, her boyfriend (the future-baby’s genetic father), the fetus, her sister, etc.), or what type of test to get (carrier testing, non-invasive prenatal testing, etc.).  What would you suggest to her?  
   1. Do you think Angie’s child is at risk of developing SMA1?  Explain.  [4 points]
   2. What kind of genetic testing would you suggest?  [4 points]
   3. How invasive/risky is your suggested testing?  How much would it cost?  [4 points]
   4. Who would you suggest be tested?  [4 points]
   5. What would the results tell Angie? [ 4 points]

Answer 1

(Please up vote.... Thank you :)