Friday, January 18, 2013

Satan Invented Genetic Screening


I've been pretty silent on the blog regarding the pregnancy, which is pretty weird considering this is essentially a mom blog. You would think a pregnancy would be a goldmine of writing material for a gal like myself.

Yeah.  Not so much.

My first trimester genetic screening gave me a scare and put me into I-guess-I'm-gonna-have-to-deal-with-this-shit mode. For me, dealing with situations that scare the shit out of me = total denial. That may seem like not dealing with things at all, but it kinda works for me. I don't like working myself into a frenzy over things I have no control of. I'm also a Greek/Italian woman, so whether or not I like to admit it to myself - I am extremely superstitious. The combination of all the above factors put the pregnancy talk on mute for a while.

I've finally emerged from that semi-terrified haze and can talk about what the hell has been going on. I'll also be free to bore you with all of the details of my pregnancy from here on out. Well, not all of them. Just the ones that make for good stories.

But back to the genetic screening and why I think Satan is it's architect.

When I was 12 weeks pregnant, I had a routine screen called an NT scan. This combined with a series of blood tests gives you your probability of birthing a child with certain genetic defects. I wasn't worried about these tests at all. During my first pregnancy - when I was 37 - my results showed the same probability as that of a 26-year-old - 1 in 1300 or something to that effect. So I had the blood test and refused any other kinds of advanced screens because I just wasn't worried about it. The technician was trying to sell me on something called a "Harmony" blood test, which is basically just as effective as an amnio without the creepy, huge needle. Again, I refused it because I just wasn't worried.

A couple of days after the tests I get a call from my birthing center. A woman with a thick Brooklyn accents bluntly reports that I have soft markers for genetic abnormalities and they would be willing to do an early amnio if I wanted one.
What? An early amnio? Why?
Well, your numbers came back a 1 in 81 chance of having a child with a genetic defect.

1 in 81? What happened to my 26 year old uterus? All of a sudden it's age caught up with it? What the hell?

Read the saga of the genetic screening fiasco here.


  1. I'm kind of torn on this subject. My baby was born with an extremely rare genetic disorder (um 12 people in the world with it). An amnio most likely would not have picked it up purely because it's not tested for.

    that said it would have ruled out all the other genetic disorders that they were testing him for and we may not have spent 2 months waiting on test results.

    That said we didn't know there was anything wrong until week 32 of the pregnancy when he developed hydrocephalus so there is no real point in wondering what it would have changed. I had no testing done with my other two kids and they are all fine.

    When they discovered hydrocephalus (they were really concerned due to it showing up so late in the pregnancy, their biggest worry was infection) they offered an amnio to find out what was up. At the time we declined it purely because it wouldn't change anything. I mean literally there was nothing we could do at 32 weeks there were no decisions to make. No idea what decision we would have made but it doesn't matter because we had no options, no choices.

    So I guess you need to decide what finding out answers means to you. Does it mean you'd make a tough decision? Does it mean you would just prepare yourself for the future? Does it mean you will have answers now instead of waiting for a month after the baby is born?

    I doubt this has helped at all but I just thought I'd share my little story in case it helped. :)

    1. You are absolutely right - there are no guarantees about anything in this world, and 5 months in I really wouldn't be comfortable making any "decisions" anyway. Thanks for telling me your story.