The Genetic Screening Quandry

On Monday, I'm scheduled for an Nuchal Translucency (NT) scan. This is one of the many optional genetic screening tests offered to pregnant women. When I scheduled this test, I had just returned from my first OB appointment, shocked off my arse that I wouldn't get to see the baby until 18 weeks when I had my next ultrasound. So, the NT scan was a way to have a non-invasive genetic screen performed (the test consists of an ultrasound where the fluid behind the baby's neck is measured to check for the possibility of Down Syndrome) and to see the baby at 12 weeks. A win-win, I thought!

As the test date approached, however, I hit the internet and discovered that this test has a very high rate of false positives (indicating Down Syndrome, when in fact the baby ended up not having Down's at all). This scares me. And having the over-anxious, worrywart personality I know I have, receiving this kind of news, and spending the next few weeks or months freaking out daily over the "what ifs" would be unhealthy for both me and the baby. And my husband just might pitch me over a cliff as well.

I know I have to consider what I would do if I received a negative test result. Neither my husband or I want to do an amnio, given the potential risks involved for the baby, but an amnio would likely be the next step recommended by the doctor, so we'd know for sure whether the baby had Down's. Could we simply sit on a negative test result, knowing that it very well may be simply a false positive, for the next six months? I don't know.

We've been through so much to have this baby. If the baby does have Down's Syndrome we will love him/her just the same. People I've talked to are split right down the middle. Some have had it, some opted not to. It's such a difficult decision, and I wish someone would just tell me the correct choice to make. My husband doesn't want it done, knowing how I would react to a negative result. I was fine with his decision, but then I read this and it broke my heart, and it made me think that I would want to know, so that one of the happiest moments in my life didn't turn into one tempered with sorrow.

What would you do? I know there's no right answer.

9 Responses to “The Genetic Screening Quandry”

  1. # Blogger Amy

    You ask what we'd do--I can tell you what I DID. Twice. I never had any genetic testing--bascially for the same reasons you mentioned.

    I am a worrier/high stress, too. If you are not going to terminate the pg, no matter what the news is (which is how I felt), then why find out? Why not just assume everything is fine so you can revel in the pg experience itself? The blog you linked to--if the writer had never done the testing then she could have enjoyed the rest of her pg.

    I guess a case can be made for the idea that if you know what to expect then you can get yourself ready, emotionally and otherwise, for a special needs baby. But do you really think that knowing ahead of time would prepare you? (maybe it would, I don't know. I'm just guessing here of course) I read about babies before I gave birth and had been around a few, and when Mia came along I had already done it once--but still, no matter what you read NOTHING can prepare you for something as minor as your child's first stomach virus. Or the first time the baby won't crying no matter what you do, and it's the middle of the night and she's been crying so long that you're really starting to question whether you still WANT to be a mom and OH GOD PLEASE MAKE THIS BABY STOP SCREAMING BEFORE I NEED TO BE COMMITTED SOMEWHERE.

    See what I mean?
    Nothing can truly prepare you for the experience of having a baby, DS or otherwise, no matter what you know ahead of time. If I had known that Kyra would have asthma and researched it ahead of time, I STILL wouldn't have been prepared for just how scary and dangerous asthma in a young child can be. So I'm glad I had the time of blissful ignorance.

    I vote for being fat and happy and pregnant and assuming your baby will be born just fine because really, the majority of babies born to moms your age are. And there's PLENTY to worry about once the baby is actually there, healthy or otherwise.  

  2. # Blogger Amy

    Two more things:

    1. Sorry for clogging up your comments. (although I realize the irony of posting ANOTHER comment to apologize for it!)

    2. I didn't mean to imply that other blogger shouldn't have done the testing. Everyone should of course do what's best for them. I just meant that for me, NOT finding out offered more peace of mind.  

  3. # Anonymous Stephanie

    You know, I'm pretty much going to leave it at what Amy said - good job! Like I've said before, I'm pg with my second baby and refused the testing this time. I had the testing done before and was SO stressed about it. I know that I wouldn't terminate the pg no matter what, so I chose not to have it done.  

  4. # Blogger Caryl

    When I was expecting, there was no option for these types of tests unless there was something very wrong. Yes, we have made progress and we should take advantage of progress. But, where do we draw the line? There is always a possibility of something going wrong, no matter if you are 19, 29, 39 or even 49. No one can foresee what will happen. You love your child because they are yours, through good and bad. Lots of women much older than you have had perfectly healthy babies. Sometimes you just have to put your faith in the hands of a higher authority, whether that is G-d, Buddha, fate or whatever you believe in. I can’t tell you what to do, but I agree with Amy, "I vote for being fat and happy and pregnant and assuming your baby will be born just fine because really, the majority of babies born to moms your age are. And there's PLENTY to worry about once the baby is actually there, healthy or otherwise." Very wise advice! Ok, I’m off my soapbox now. You need to do what will make you feel comfortable and no matter what the outcome, we are here for you.  

  5. # Blogger Marie

    I didn't have any genetic testing done, even though at my "advanced maternal age," the chances of having a genetic defect were much higher. Statistically, the chances are very slim at your age.

    I'm with Amy on this, but you guys need to make the decision about what's best for you!  

  6. # Blogger Marie

    In case you haven't seen one of these charts -- you're looking really good at 29/30:
    http://www.ds-health.com/risk.htm  

  7. # Blogger Kross-Eyed Kitty

    You're right, there is no right answer as to what to do. I think, me being me, I'd rather know ahead of time to be able to prepare.
    And whatever you and your husband decide, in the end, that will be the right decision.  

  8. # Blogger Michael Manning

    Just checking in to wish you a peaceful weekend!  

  9. # Blogger Alisha

    Tough call, Kristi Girl! I'm not even going to pretend to know what I would do, instead I am going to reiterate what an amazing, intelligent, loving person you are and let you know that I am confident that whichever way you go, you will know you are doing what's right for you. So there.  

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