12w scan - high chance of DS, Edwards.

[Underduck]

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. I don't think I'd 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.

 

[steph.]

I'm so sorry you are going through this underduck. All that you have written, your feelings, the crying, the disbelief is all very familiar. We went through it with the last pregnancy. I had 1:20 risk of downs because my bloods were AWFUL, and nt was 2.6mm which is on the higher end of normal. I opted for an amnio ( as it was too late for cvs) because I felt I needed to know too. The worst 3 weeks of my life hands down, but thankfully we got good news at the end- our dd had normal chormosomes.

It's ok to not want your child to have downs syndrome, with it comes many challenges which as parents we don't want to see our children going through. It's a big diagnosis and if this is the case for your baby it may take you a while to fully accept it as your reality. Keep in mind though that the odds are on your side. There is over an 85% chance your baby is completely healthy.

When are you having the cvs? Hope you get good news soon, the not knowing is so hard xxx

 

[nickyb]

So sorry your going through this, I fully understand the need to know, I'm currently waiting on my cvs results, not because of a downs risk but because of a previous pregnancy that had abnormal chromosomes
It is such a scary time, if u want to know anything about the procedure etc just say
More times than not babies turn out fine and it's a false alarm hold on to hope

 

[littlelotti1]

I am having similar worries. We Just had an ultrasound and baby has a lot of fluid around his or her neck. I am going to a specialist on Friday but I'm quite scared. I know this can mean a heart problem or another genetic issue.

The pic is kind of blurry but you can see the black bubble behind the neck and my doctor saw this in every angle she tried.

Good luck with your cvs

 

[CrunchyJenny]

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. I don't think I'd 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.

Please don't worry too much yet hun, I know this is scary but a high NT and not being able to see a nasal bone are NOT a diagnosis. They might point to a potential issue but they are certainly not definitive. I'm surprised they even told you the "odds" before further testing. Don't give up hope that your baby is perfectly normal till you see your test results. Chances are s/he is just fine. My little one had a high NT (3.1) and is doing great.