Thursday, January 17, 2013

Genetic & Other Testing

My latest ultrasound, at 12 weeks 3 days, was at a fetal diagnostic center in a nearby city. The ultrasound itself was pretty neat, although it took longer than my first one due to more measurements needed and the fact that the wiggly baby was not cooperating for the ultrasound technician at all.

What I found most interesting, though, was the opportunity we had to talk to someone familiar with genetics. I have always been really interested in genetics, so sitting down and discussing family history while she drew out a chart was fascinating to me. I was really glad I had my mom there, so that I had someone with a little more knowledge of my family's medical history.

What also helped immensely was that I have a subscription to, which is a website where you send in your spit (yup, and a lot of it, too) and get results back on your disease risk, drug response, traits you carry and also some details on your ancestry. It currently costs $99. Since I signed up in 2009, I have learned interesting things, such as my risk for age-related macular degeneration and coronary heart disease, whether I carry a mutation that might make me resistant to HIV/AIDS, the percentage of my DNA that is Neanderthal (seriously), and my mother's European heritage.

I was able to log in to my account on the geneticist's computer, and she went through looking for things that could possibly complicate the pregnancy or affect the fetus. The "carrier status" section of the site has results for things like cystic fibrosis, Connexin 26-related hearing loss, and neural tube defects. As it happens, my results show moderately increased odds of having a child with neural tube defects and also that I am a carrier of the Connexin-26 mutation. So, the doctor was able to order a test to make sure I am able to get enough folic acid in my system, and was also able to talk to us about the risks of hearing loss, which I am already pretty familiar with.

All of the tests I needed to take (both at the doctor's office and later at a lab) have come back normal so I'm glad for that. And especially glad for 23andme, because it was so informative for my doctor.

1 comment:

  1. Hi Megan,
    I only had one ultrasound during my pregnancy (17 years ago) and I remember that I had never considered the possibility of something being wrong until the technician began the test. I actually found the experience unnerving because of that, but the results were fine.
    Take good care of yourself, Megan.