my baby has a risk of DS, need help

ginamae415

Hi laides! I need some insight. Last week my NT results came back as my baby having a 1:210 risk of DS. I know that's not really low or anything, but it's still scary for me and my family. I went to a genetic doctor a couple days ago and was told about the further testing we could do. There is the CVS testing (which I'm to far along for), Amnio, and doing ultrasounds. I am terrified of amnio, and not sure I want to do it. My crazy mother in law wants me to do it, but ultimately it's up to my DH and I.. She was quite frustrating when she told me I should do it, in case I wanted to plan to terminate my pregnancy or anything. I wouldn't have even thought of that, and when she brought it up I was in complete shock! I love this baby so much already I wouldn't even think about that, DS or not. So I guess what I am getting at is, do I go with the Amnio even though it's invasive and there is a risk of miscarrage? Or do I just believe that everything will work out fine, and go with the ultrasounds? Any of you ladies doing the amnio or have done it? I know nothing, but have heard mixed things.

Teneniel

I guess I can only try to think what I would do if it were me.  I think I'd probably skip the amnio personally...if only because the thought of that whole process gives me a sudden needle phobia.  Not wanting to terminate the pregnancy (even with confirmed DS), I think that the ultrasounds would give me enough info to mentally prepare and research.

 If, however, I couldn't stand not knowing exactly what was up, and the risk was specifically for Tris18...I might be able to stomach the amnio.

This is probably no help at all. 

SassyRedhead

Personally I'd make them run blood work twice, do a few more ultra sounds before I'd agree to an amnio.  I've had two miscarriages in a row so anything that would put me at risk for another one terrifies me. 

It's 100% up to you and a very personal decision.  Screw your MIL - who cares what she thinks it's YOUR baby.  

salt78

Personally I'd go for more bloodwork/ultrasounds before an amnio if you decide to look into it further. In the grand scheme of things, your risk is still low. I would understand wanting to do something more invasive if they told you it was a 1 in 20 chance or something, but as it stands you only have like a .5% chance of any problems.

lisaNDmike08

First of all, big hugs to you and your DH as you walk through this!  My experience is a little different, since our first baby was already presenting fairly large bilateral cystic hygromas at our NT scan.  At that time, we were presented with genetic abnormality odds of greater than 1 in 2.  Since we were traveling for the holidays and about to move on to the next town, we made the knee jerk reaction to get a CVS done the next morning.  I am sure this is highly unusual, but after three (painful) attempts they were unable to get any testable tissues.  The baby ended up dying a few weeks later (whether it was related to the invasive testing I will never know) and they were still never able to get testable tissue.  In hindsight, while a positive diagnostic result would have been nice, it really wouldn't have changed much for us.  We had made the decision to keep the baby and proceed with high risk doctor appointments to monitor the baby's health, development and hygromas.

If I were you, knowing that your risk is still relatively low, a visible hygroma wasn't already present at the NT scan, your instinct is to be uncomfortable with an amnio, and you aren't currently considering terminating the pregnancy, I'd just go ahead with further monitoring.  You will definitely want your doctor to stay on top of your baby's development, especially in the neck and heart which can present physical manifestations of down syndrome.  On the other hand, if you'd feel reassured with an absolute answer to what is going on (or not going on), an amnio could probably help you with that.  

Were you offered a quad screen test as well?  This is another blood test that you'd do around 16 or so weeks (your blood, not invasive for baby) and that might help further refine your initial NT risk level for down syndrome, other chromosome abnormalities and neural tube defects.  

MamaValley

If you have no plans to terminate the pregnancy regardless if the baby has DS, then I would say no way to the amnio. The risks are too high. Go forward from here with an open mind and adjust to the idea that your baby has a chance of being born with DS, and know that you will love him/her no matter what.

If you think you might ultimately choose to terminate based on the results (totally your choice), then it is up to you... The amnio will give you more conclusive results, and it would help you make a more informed decision. But you should do your research on it all to see what all of the risks are so you are choosing what is the right thing for you.

This is your decision, and it is a big one. Don't let others sway you!

McGibbon51311

I'll answer assuming you want us to talk about what we'd do if we were you: If I wasn't planning on terminating the pregnancy no matter what, I'd skip the amnio. It can be scary and has some complications associated with it. At my a/s, the u/s tech was able to do all of the measurements and was able to tell us our babies had no markers for DS. So maybe this is the best route for you if you don't want invasive testing but would like to know. 

kmiller1012

With DS my risk came back very similar to yours.  I didn't want an amnio, but did go for extra u/s.  The MFM dr didn't see anything to indicate the baby would have downs.  They monitored me for awhile and finally released me back to my regular Dr.  DS was born perfectly healthy.  Also, I didn't feel the risks of miscarriage were that far off of what the risk of downs was.  I couldn't take that risk since I new I wouldn't terminate the pregnancy.

ginamae415

Thank you so much ladies, it gaves me a lot of insight. I think though that you have all helped me go with my instinct which is not to go with the amnio. I know either way I am going to love this baby no matter what the outcome and that's all that really matters. But I am of course going to keep monitoring on ultrasounds and just checking on how the baby is looking. And to lisaNDmike.. I am so sorry for you loss, that must have been so hard to go through. I hope all is well now with your current pregnancy and I wish you the best.