More Tri-Screen Details

Dr. H is now involved and thank goodness.
He basically called me and said that the test was done incorrectly and that he believes it to be a false positive. He is giving my results and bloodwork to his genetic counselor so she can re-configure the test. Apparently there are different ways of measuring DS during the second trimester and my bloodwork used first trimester screening techniques, rending the results inaccurate.
Scary still.
He also offered me the MaterniT21 Test.

MaterniT21 sounds a bit like a maternity clothing line, but it’s actually a new test that can reliably detect Down syndrome in a fetus. Developed by the California company Sequenom, the test checks fetal DNA present in the mother’s blood to see whether the baby has the extra copy of chromosome 21 that causes Down syndrome.

Unlike current prenatal tests, which carry a small risk of fetal injury or miscarriage (since they require a sample of either amniotic fluid or placenta), MaterniT21 appears to be a much safer alternative. It can be administered as early as 10 weeks into the pregnancy—with an impressive accuracy rate of 99 percent.

I want this test and I want it yesterday. Why was it never offered in the first place?
Anyway, Dr. H is going to do his best to help me and get me sound answers. I have a very high tech ultrasound coming up in less than 2 weeks and I am in the process of setting up my MaterniT21 test. These are good places to start.

I got loads of presents from students today since it was the last day of school before the break. Most of it was candy of cookies but I also got a small painting with the words “Faith” written on it. I remember thinking, “What a thoughtful gift”…now I am thinking, “What a meaningful one.” I freaked out nearly 8 hours ago about this news and I am still a bit on edge from my extreme fear. But ultimately I know that this is not within my control. God has blessed us with this amazing little one and while I am scared of what the results might be, I am going to continue enjoying myself until we know anything for sure.
I don’t want to worry for no reason, but most importantly I don’t want to feel as if I have to make a decision about anything prematurely. Inside I feel like a worthless human being for being afraid of DS for my own child. And then I look at the simple painting my student gave me and I can’t help but know that this whole thing has been all about faith from the beginning.

Advertisements

6 Replies to “More Tri-Screen Details”

  1. Your blog is impressive! I am curious about the ratio you got for DS from the second part of the sequential screening test… Mine is positive too and I will do the MaterniT21 Test next week.
    God bless your family!!!

    1. Glad you found me! My first ratio at 12 weeks was 1:1200. My second during the second trimester was 1:243. I know it can be scary, but gosh is it a life worth having! I have so enjoyed this pregnancy, all the ups and downs, all the excitement and buzz to have our son. 🙂
      So know that no matter the results, there are so many positives! And know that there is a HUGE community of support out here waiting to lift you up no matter what!
      Please keep me updated on your test results. 🙂 Best of luck and God bless! 🙂

  2. Thank you for your blog. We are debating the maternit21 test right now and it seems so hard to envision in being positive but your outlook helps. I just read a few parts tonight but it was encouraging in case our baby would have Ds. We had a 28 week preemie the first time and I just want us to have a normal pregnancy this time but your words show it will be great either way.

    1. Congrats on your new baby! I know the thought of MaterniT21 and a down syndrome diagnosis can be overwhelming. It’s definitely not what we had planned for our lives or Eli’s but its been different than we thought too- in a good way!
      Every day I hold him in my arms I wonder what I was so worried about.

      Eli’s perfect and we love him so much. 🙂 People said that to me before Eli was born and I always thought, “of course you say that, who wouldn’t love their own kid” but my gosh! I had no idea how my heart would grow. 🙂
      How far along are you guys? What has convinced you to consider the test?
      I will be thinking about your sweet family and praying for a healthy pregnancy. Please don’t hesitate to ask any questions or contact me! Can’t wait to hear the results!

  3. Hello! Just found my way to your blog. I had an ultrasound at 15 weeks with Maternal Fetal Medicine. Both of my first pregnancies were high risk so we were automatically sent back to MFM. They found three markers for DS during the scan so we went immediately afterwards to have the MaterniT21 test. We should get our results back this Friday. I was very emotional, not because I was disappointed or maybe because I was I’m not really sure. I know DS is not tragic and our little boy will be a special gift, I guess I’m just really scared. But I think knowing will allow me to prepare myself with knowledge. Finding blogs like yours is reassuring and I find comfort in reading them. Even as I wait for the MT21 test results I keep thinking only time will really tell as MT21 is not diagnostic. Any additional information you can pass along, were you able to confirm with additional ultrasounds throughout your pregnancy? I know either way this baby is being born into a very large, loving, and supportive family.

    1. I’m so glad you found me! Congrats on your new little one! What an amazing blessing!! 🙂

      So I think it’s totally normally to have a range of emotions. As positive as I was, I definitely had rough days were I was angry, sad, scared…all of things I didn’t know. But once Eli arrived, none of it mattered. Does my heart ache for him some times? Yes. But my heart aches for all my children- we never want to see them hurt or struggle.
      Knowing prenatally helped me to prepare and make connections with other people. 🙂 it was a blessing to know before he arrived. And o think you will find that your little boy will be just like any other baby once he’s here. 🙂

      When do you get your results?
      I would love to email you- what is your address? I can send you more details that way. 🙂

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s