George Allen Miller One Geek's take on all things SciFi

AFP testing, Trisomy 18 and my wife

01.03.2010 · Posted in Everyday Life

In what can only be called universal irony, just as I was finishing my last post the doctor called us with results from the AFP test my wife had taken earlier this week. When a doctor calls you to discuss test results on a Sunday you had best put the computer down and listen. At first I was skeptically positive and told my wife that it was ok, doctors often called their patients on Sunday afternoon to tell them a routine test was all positive. Fail.

The doctor in fact told is that a part of the test shows that there is a chance of Trisomy 18 in our child. What the hell is that? I was prepared for down syndrome, premature birth and even preeclampsie, my wife had that with her first child, but what I wasn’t prepared for was Trisomy 18. Not only was I not prepared I had never heard of it before and my geek brain kicked in to think it was a cool name for a starbase.

Well, it really isn’t. Trisomy 18 is some serious shit. A little research later and I’m scared, my wife is depressed and next week is going to be nerve rackinglly filled with ultrasounds and amniocentesis tests. If you don’t know, Trisomy 18 is a condition that happens in about 1 – 3000 births. Survival rates are virtually non-existent. Some children make it to teenage years but with serious medical problems. Most die at childbirth. Wow. Talk about a having a bad phone call.

Some further research later and now I’m confused about just what the AFP screening told us. Just because we have this risk of Trisomy 18, doesn’t mean we have it. In fact, the doctor said there is a 1-50 chance, that’s 2%, that we do. Online I read even if you have the chance for it, you are 11% to actually having it. Further, positive results of an AFP screening, which is just a simple blood test, may not indicate that everything is actually ok. Positive results can be negative and negative results can be positive. Why the hell do they have this test? I’m sure it has it’s merits but come on.

So, the next few days will be somewhat insane. I’ll be sure to post here the results of the two more tests we have to do. I’m not as worried now as I was. 2%/11% are fairly good odds in our favor so I’m going keep upbeat on this one and try to be as positive as I can. With any luck we’ll be tested next week and this will just be a bump in the road towards a healthy pregnancy.

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2 Responses to “AFP testing, Trisomy 18 and my wife”

  1. I’m sorry to hear you are going through a difficult and stressful time in your pregnancy. Waiting for test results is nerve racking. If you haven’t already found us, here is the website for the Trisomy 18 Foundation, http://www.trisomy18.org . You will find a wealth of information on Trisomy 18, along with many loving and caring families that have walked this journey. As we know, each child with Trisomy 18 is unique. While the list of known defects is the same, some children are more affected than others. I encourage you to register and join our support boards. You’ll be able to communicate with other families awaiting further testing and families affected by Trisomy 18. Right now the best thing to do, is gather up as much information as possible. Please know our hearts are with you, and we’re here to support you.

    Warmly,

    Bianca DeLone
    Staff at Trisomy 18 Foundation,Inc.
    BDeLone@trisomy18.org
    http://www.trisomy18.org
    http://www.trisomy18support.org

  2. Hi Bianca,

    Trisomy18.org was on of the first websites I found a few minutes after we got off the phone with the doctor. A lot of really good information there. I’ll be sure to register soon.

    George

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