12w chromosomal scan results. UPDATE - Page 7!

Underduck

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Hey all.

We just got back from our first trimester screening (scan for DS and other abnormalities) and it didn't go well.

We were so excited because we saw the baby flipping around, waving, and the heartbeat was super strong at 163 bpm. Then the tech disappeared for a while and a nurse came in to talk to us.

We have a 1:7 chance of having a child with Down's Syndrome and a 1:73 chance of having a child with Trisomy 18 due to a couple of soft markers: fluid behind the baby's neck measuring 3.6mm and no clean sight of a nasal bone. My bloodwork was fine, but the ultrasound was not.

To say we are in shock and are devastated is a vast understatement. We are both lost, have done more than enough crying and don't really know what to do.

I decided to have a CVS done because I feel like we need to know. I know it carries risks but I feel like it's not really an option. It's not like I would terminate the pregnancy. But I need to know. I can't explain why. I just really want this to be a healthy baby. I know many people have a baby with Down's and would not trade them for the world, but I'm not ready to move to that yet and I'm not in a good mind-space to accept that kind of reality.

My heart hurts, my head hurts and we are not sure what to do from here.

Thank you for reading. Please share your stories if you have a similar one.
 
Praying for you that everything is fine.. I'd go on with the further testing too..

If it makes you feel any better, when I was preggo with my daughter 15 years ago, some test came back that my odds for downs syndrome were high too and she came out perfectly fine... It wasn't the us test though... it was the blood screening.

Stay strong and hang in there. praying for a healthy baby.
 
I'm so sorry you're having to go through this. I really hope the CVS results come back w/ better.
 
I think CVS is a really good idea. Then you will know for sure. Good luck, sweetie, and big :hugs:.
 
I'm so sorry you are going through this :( I too have been in these similar shoes.... With my last baby..... At our 20 week scan ... He had 2 out of 5 markers for Down syndrome ..... His femur was short and something with his kidney...... I also had extremely low fluid..... My husband and I just about died that day.... Hearts on the floor, devastated , worried to death, scared as ever...... I cried for a week straight 24/7.... Our blood work after that seemed to be ok .... We had more scans thought the pregnnacy and nothing changed or got worse..... We were hoping he would be fine and healthy but knew there was a chance...... Well..... That test completely lied!!!! He was born withOUT Down syndrome or any other problem, beautiful baby..... All that worrying!!!! The only thing wrong with him was food allergies and severe reflux..... He is now 4 and extremely happy and smart , he had a great yr in preschool and made lots of friends.... He also has played soccer and tball.....
I hope my story holds out hope for you!!! I know it's extremely hard but try your very best to try not to assume the worst until you have no choice. I think it's smart you are going through more tests ..... Please keep posted..... If you need emotional support or have questions please feel free to pm me! You need to vent and not hold this in, the more u talk the better u will feel.....
Another word of advice..... Find out how accurate this test is..... My dr advised me against this test that u just had because he didn't want me to go through the same worries we had before..... I don't remember how accurate he said they are but I know they aren't 100% that's for sure!
Wishing you the best of luck!! Xx
 
When my OH and I first talked about the NT screening, we thought if we got worrisome results, we'd pay for the new type of blood test (Sometimes called Harmony, Panaroma, etc) I was told that it was very accurate, but still considered a screening because it is new. (Also can tell you the gender ;))

https://www.ariosadx.com/
https://www.panoramatest.com/

Maybe something to look into.
 
The doctor did tell us about the new blood test that they can do. But it is not definitive and costs $850. We would pay for it, no problem, but it would just show a 'high risk' or 'low risk' and we'd had to one of the other invasive tests done anyways. So I'm not sure. But thank you :) We still have lots to discuss tonight.

Thank you everyone. We are struggling but trying to be positive.
 
Sorry to hear about your results its completely understandable why you feel how u do. Everyone wishes there peanut wil be fit and healthy'

I wont be having this test done because i dont want to feel like how you and many others are xx fingers crossed amd good luck xx keep us updated please
 
I just wanted to say im sorry for what your going through.

My friend had the same thing happen at her 12 week scan but baby turned out just fine.

stay strong x
 
I am sorry you have to go through this. It must be so stressful and worrisome! I wish you the best of luck with the CVS! :hugs:
 
Thank you all <3

The CVS procedure has been booked for tomorrow. I should know the preliminary results next week. Scared of the procedure, but feel like I need to get it done.

Hang in there, little baby.

:cry:
 
Thank you all <3

The CVS procedure has been booked for tomorrow. I should know the preliminary results next week. Scared of the procedure, but feel like I need to get it done.

Hang in there, little baby.

:cry:

Praying for you....

What is CVS?
 
Chorionic Villus Sampling. It's much like an amnio, but it can be done earlier, tissue is taken from the placenta, and we will know what the results are sooner. It's a little more risky as well.
 
Chorionic Villus Sampling. It's much like an amnio, but it can be done earlier, tissue is taken from the placenta, and we will know what the results are sooner. It's a little more risky as well.

I just googled it..... I am also faced with the choice to do amnio or not because I am 37... I have a few more weeks to decide what I am going to do...


I will be thinking of you. Keep us posted. hugs.
 
Best of luck When I was pregnant with dd I had a 1:11 risk for trisomies 13, 18 and 1:17 for down syndrome. I had the MaterniT21 test done. It's a yes or no, not a screening. Waiting for the results was the longest and scariest week of my life. All came back fine and she's now 14 months. I certainly know how scary this is and I hope you get good news as well.
 
I'm so sorry you're going through this hun and I fully support your decision to have further testing done. I pray that things go the way you want them to and I hope everything works out for you in the long run!!
 
Good luck on your CVS! Let us know the results so we know how to keep thinking about and praying for you.
 
I hope everything goes well! You've got a higher chance of everything being normal than not :)
 
I'm so sorry you have to go through this. My son had a 1:110 chance of having Down Syndrome and he does not. So keep your chin up! I hope the CVS brings good news!
 

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