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.

6 Responses to “The Genetic Screening Quandry”

  1. # Anonymous Anonymous

    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.  

  2. # 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!  

  3. # 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  

  4. # Blogger Ramona

    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.  

  5. # Blogger Unknown

    Just checking in to wish you a peaceful weekend!  

  6. # Anonymous Anonymous

    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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