1 in 2 chance for Down Syndrome – waiting for NIPT results and feeling overwhelmed

[TinyHeart]

Hi everyone,
I’m 33 and just got my combined screening results — I’ve been told there’s a 1 in 2 chance that my baby has Down Syndrome. I’m completely devastated and can’t stop thinking about it. This is my first baby, so I’m finding it really hard to cope with all this uncertainty.
My test results were:
• NT: 3.1 mm
• HCG: 2.88 MoM
• PAPP-A: 0.3 MoM
(taken at 11 weeks + 6 days)
I had my NIPT done two days ago and the earliest I’ll get results is next Friday, or if delayed, possibly the following Monday or Tuesday. The waiting is awful, and I keep thinking about the worst-case scenario — that I might need to consider a termination if the NIPT confirms Down Syndrome.
My 12-week scan showed that the baby looks structurally fine, with a prominent nasal bone and no visible facial flattening but I’m not sure how much that matters at this stage.
Has anyone else had similar results and gone through this waiting period? How did you cope? What were your outcomes?
Thank you for reading — I’m finding this really hard and would really appreciate kind, gentle replies. 💛

@TinyHeart I am so sorry you've had this result, it is truly devastating. In my case, they couldn't see any soft markers on the scan today and are not able to do a CVS because of where the placenta is positioned. I'm going to have to wait another three weeks which feels like agony. I hope you get some closure as soon as possible, and if you ever want someone to commiserate with/scream down the phone to- I'm here.

@narnia2025
Thank you so much for your kind words. It really means a lot. ❤️
Now it’s just another wait for the results. I’ve had some support, but honestly, the kindness and understanding I’ve received here have helped me the most. It’s been such a comfort during such a horrible time. 💛

@intrepidgiraffe
Thank you so much for sharing that. I truly believe you made the right decision for yourself, just as I know I’ll be making the right one for me. ❤️
I don’t think I’ll ever regret it either. I just need to see what else life has in store and trust that, in time, there will be good moments again. I do feel that going through this will make me stronger. 💛

Thinking of you @TinyHeart
From experience, I know how terrible it is waiting for the results. Your mind is playing out every scenario imaginable.

I hope you have loved ones around you for support (as well as us here 💐). Sending peace your way.

@Fletchasketch
Oh, I’m so sorry you’re going through this too. I can only imagine how hard it must be having to wait another three weeks. That really is such a long time when you’re already so anxious and just want answers.
Thank you so much for your kind words and for offering to be there. I really appreciate it, and the same goes for you too. ❤️ Please feel free to DM me anytime if you want to talk to someone who’s going through something similar.
I really hope the next few weeks pass quickly for you and that you find as much comfort and strength as possible along the way. 💛

@JellyBeanSpring25
Thank you so much for your lovely message and for thinking of me. ❤️ You’re so right the waiting really is unbearable, and my mind keeps running through every possible outcome.
I do have some support, but honestly, the kindness and understanding from everyone here including you has meant so much. It’s really helped me feel less alone through all of this. 💐💛

I'm sorry to hear it was high chance, but I'm glad you know now and can start moving. I found things got easier as I was in control of what was happening instead of just waiting. I hated the CVS so much but that's done too. If I recall they do the main trisomies really quickly, and I've always had a phone call pretty much the next day, or the following day (I've had CVS and amnio twice). I hope you'll get yours quickly too.

It's such a sad time and the hormones won't help, but you will get through it and you will be ok in the end. Take your time. I remember thinking I'll never get over it but once I started feeling better, I started to feel a lot better if that makes sense. It did help that I had a healthy baby shortly afterwards and I feel very grateful for that. Now I don't think about the pregnancy every day anymore, but when I do, it's just with warmth and love, and no pain or regret.

Sending you healing thoughts and love. 🌼

I don't know you (obviously!) @TinyHeart, but you've been on my mind all day. Sending strength to get you through the next stages ❤

@Huntrix
Thank you so much for your kind and comforting words. It really helps to hear from someone who’s been through this and understands how it feels. ❤️
I completely agree even though the result was so hard to hear, it does feel a little easier now that I can actually move forward instead of just waiting in limbo. The CVS was very painful for me too, but like you said, at least that part is done now. I really hope I’ll get the results soon so I can finally have some closure.
Thank you again for your kindness and for sending such comforting words. 💛

@outofideas2
That’s such a lovely message. Thank you so much for thinking of me. ❤️ It really means a lot to know that people I’ve never even met care enough to reach out. Your words honestly bring me a lot of comfort right now. 💛

OP. I know how awful that wait is, you just need to take it minute by minute.

I completely shut off from everyone and everything while we awaited our results, it was absolute torture - my heart goes out to you.

To be completely transparent - we opted for the amniocentesis tests. We had three other children and had to make an informed choice based on how it would affect them if we had a seriously poorly baby.

Everything had come back clear and our boy was born apparently healthy.

Unfortunately at 9 weeks old he suffered a massive seizure and we almost lost him. He was then diagnosed with a 1 in 500 million genetic disorder.

He is 16 months old now, is blind, tube fed, has a lot of seizures and is unlikely to ever walk or talk.

BUT the joy he brings us outweighs all of the worry. He is the happiest most contented little boy, full of laughter and very cheeky.

There was no way the condition could have showed up on the testing because it is so rare - however, I am glad. We may have made a heartbreaking decision and missed out on such a wonderful baby, who has taught us all so much, he really is so loved.

Sending huge hugs to you xx

I will be continuing to think of you OP and wish you all the best with the final bit of waiting and then with the surgery if you need to go ahead

I’m really sorry to hear that. Be kind to yourself.

I really hope you hear tomorrow OP, waiting is just excruciating.

Sending you my thoughts and have been thinking of you all day today 💐Am glad the CVS was done today so you can make your decision asap. Xx

Same here. I didn’t think I could conceive and even when we had IVF I made that decision. I would have loved a DS baby even more if that is possible. Not trying to influence you in any way, OP but didn’t want to read and run either. X

Given that OP has said what she plans to do, this really isn't necessary. Also, comments like this are daft because the NIPT also tests for other conditions that aren't compatible with life.

@TinyHeart I’m sorry you had the result confirmed, it must feel like the world’s crashing down. I know how shell shocked we were when we were told about my daughter’s extra chromosome, but I wish I could go back and tell the me a few hours after her birth not to worry, everything would be better than ok, and our tiny daughter would grow to be a wonderful, sparky kid, with a wicked sense of humour. She would reach milestones in her own time with the help of photo, speech therapy and OT, but would also completely defy the expectations of the consultant who told us about her suspected T21, reeling out a list of medical issues (none of which she ended up having). And those who did have to endure the NICU stays, heart surgeries, bowel issues etc came out the other side and are doing so well. And you, as a parent are stronger than you think.

Do take some time and space to work out your thoughts and where to go next. Look at both ARC and the Down’s syndrome resources suggested further upthread (PADS, DSUK the Down’s Syndrome Association etc)to try and get some balance. What are you most afraid of? Are there any questions you need answered? Happy to answer anything as someone with lived experience of bringing up a child with Down’s syndrome.

If you’ve absolutely made your choice to terminate, I wish you all the strength you will need, do allow yourself to grieve, remind yourself that your decision was right for you, your situation and family, and that the chances of history repeating itself are tiny. Take care

i have never posted on netmums before but I just had to write to you on here. I just wanted to say my thoughts really are with you. I am going through pretty much the same thing (1:3 chance of DS) and had amino on Thursday and expect to get the results tomorrow.

I wish you all the luck and prayers in the world despite whatever outcome that may be. You will do what is best for you, your baby and your family. Please feel free to message me anytime xxx🙏💛

I have been silently following this thread and thinking of you so much, OP. I’m sure you will experience all kinds of emotions in the coming days. We are all behind you and sending love

How long do you have to wait for the CVS results? Is it to confirm for definite?

We are all here for you OP.

We're holding your hand and will be doing so as long as you want us to. Thinking of you

@RoseWilderLane
Thank you so much - that really means a lot to me. ❤️ I can truly feel the support from everyone here, and it’s been such a comfort during this horrible time.

@PotOfViolas
I should find out either tomorrow afternoon or Thursday morning. Yes, the CVS is to confirm things for definite, since there’s still a small chance the NIPT could be a false positive though they told me it’s only about a 9% chance. I’ve already started to accept the situation as it is, but I just want to have the final confirmation so I can move forward. 💛

@firsttimepregnanthelp
Thank you so much for your lovely message and for thinking of me. ❤️ It really means a lot to know that even people who haven’t commented have been following and sending love and support. You’re right the emotions come in waves, but the kindness from everyone here truly helps me get through it. 💛