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. 💛

Op I just wanted to reach out with support while you wait and ultimately for whatever you decide. ARC are brilliant to talk to and will be completely non judgmental whether you decide to opt for termination or not and will help support while you wait.

@Onceuponatimethen
Thank you so much for your kind message and for mentioning ARC. I’ve heard really good things about them, and it’s so reassuring to know they’re completely non-judgmental and supportive no matter what someone decides.

@TinyHeart to be honest it’s comforting to be part of this thread and hear about others’ experiences. It is the only thing on my mind right now in any case so I may as well share what I can.

‘I spoke to a friend last night who went through TFMR a couple of years ago, she went on to have a lovely baby boy and it really helped to talk it through with her. She also recommended ARC as well as a podcast, Time to Talk about TFMR. I have found both to be very helpful. The lady at ARC in particular was so kind when I cried down the phone. She told me ´Its awful, for most people it will be the worst thing they ever go through’ strangely it made me feel comforted and more justified in my grief.

@Fletchasketch
Thank you so much for sharing this. It really does help to hear from others who truly understand what this kind of waiting and fear feels like. ❤️
I completely agree, it’s comforting to have a space like this where we can share openly.
I’m glad you had someone to talk to who’s been through it and could give you that reassurance. I’ve heard a lot of good things about ARC, and I’ll definitely look up that podcast too. It sounds like it could really help. What the lady at ARC told you is so true - it validates just how painful all of this is.

@TinyHeart I was in a similar situation earlier this year although with slightly lower odds than you. I’m surprised they’ve offered you a NIPT as the screening midwife in my hospital said they would go straight to amnio for odds under 1:10? I had a NIPT and it did take over a week to come back, the waiting was so awful but in a way it’s positive you’ve got a clear idea of what you want to do as I was really torn! I really hope your result comes back Monday if not don’t be afraid to chase it up with your hospital.

@Kitkat901
Thank you so much for your message and for sharing your experience. I can completely relate to how awful the waiting feels. They offered me the NIPT because the amnio does carry that small risk of miscarriage, so they wanted to try the less invasive option first.
I’m really hoping the results come through on Monday too - the wait is just unbearable. Thank you again for your kind words.

Wishing you well op
There us no wrong or right here

@Cherrypopping
Many thanks for your kind wishes and for understanding my situation - it means a lot.

Sending best wishes Op, the waiting is awful.
I really recommend ARC. I generally find having information to hand makes it easier to deal with whatever life throws at you and Arc we’re really helpful to me, explaining things.

Op wishing you all the best. I also think I would choose the same if I were in this position. Fingers crossed you hear back ASAP and that it is good news xxx

Same. And 100% now that I have other kids.

Same here. I had to have a TFMR years ago and I have zero regrets. It was a sad time for a while, but it was absolutely the right decision for all of us.

There is the Antenatal Testing section on MN with lots of people with similar experiences. I found that chatting to people online really helped as I realised there were loads of people in my situation. It's just one if those things that you don't think about until it happens to you.

Hopefully you'll get your results tomorrow OP. 🤞🏻

@wizzler
Thank you so much. The waiting really has been awful, so your message means a lot. I’ve heard great things about ARC, and it’s good to know they were so helpful for you. ❤️

@MatriarchCaz
Thank you so much for your kind message and understanding. It really means a lot to feel supported. I’m hoping I’ll hear back soon too❤️

@Huntrix
Thank you so much for sharing your experience and for your support. It really means a lot. I’m so sorry you had to go through that, but I truly believe you made the right decision, and I think it’s the best choice too. If my results come back high chance, that’s what I’ll do as well.

I’ll have a look at the Antenatal Testing section. It sounds really helpful to connect with others who understand. ❤️

How're you doing OP? Just checking in x

@MyFlabbersAreGasted
Thank you so much for checking in ❤️ I’m honestly finding this the worst time for me. My anxiety is at its highest, especially knowing that I might get the result tomorrow. I even had a bad dream last night that I’d been given bad news, and I can barely eat or sleep. I’m just trying to go for short walks to calm myself down, even though I feel so weak. It’s such a horrible wait.

@TinyHeart I’m going through a very similar situation, my NIPT came back as 1in2, although weirdly they didn’t tell me for which chromosome. I then had a CVS on Friday, so I’m in the long wait for results. My baby’s NT was 9.5 which is one of the biggest I’ve seen so I think for me it’s pretty clear something is very wrong. My consultant said that the tests with this baby is to help us inform a hopeful future pregnancy. Have you had a CVS too? Well done on keeping busy, I have bursts of productivity and then bursts of crying, it’s a rollercoaster for sure. Thank you for sharing your story, it’s such an isolating time and I hope it’s a comfort to talk. ❤️

@Curlyleopard
I’m so sorry you’re going through this too. It really is such a heartbreaking and isolating time.

Can I ask, is it possible for an NIPT result to come back as 1 in 2? My midwife told me it’s usually just reported as high or low chance, so I’m a bit confused about how it works since I’ve never had one before.

I haven’t had a CVS. They advised me to try the NIPT first because of the small (1 or 2%) miscarriage risk with CVS, but now I almost regret it because this waiting feels like absolute hell. I completely understand what you mean...the mix of trying to stay busy and then suddenly feeling so low and overwhelmed. Today has been one of those really hard days for me to. I feel awful and can’t even find the words to describe it.
I truly hope things turn out as well as possible for you. You sound like such a kind person. ❤️

It will just come back as high or low risk. We had ours done privately, came back low risk but these are the caveats to the low/high risk results.

This all sounds wrong, I would go back to your consultant and ask them to explain more clearly what has happened. The combined screening is an ‘odds’ number this is usually the screening you have on the NHS as part of the 12 week scan? If this comes back with odds more than 1:150 you should be offered a NIPT for which you will need to go back to give more blood or you could have a CVS or amnio or do nothing. They should tell you which of the three conditions you have high odds?

The NIPT is reported as high or low risk but is much more accurate than the combined screening.

@PeachySmile2
Thank you so much for explaining and for sharing the screenshot. I really appreciate it. ❤️

@Kitkat901 i was really hoping someone would be able to explain that - thank you so much. Sorry if I have confused things. I must have had the combined screening and then skipped the NIPT as the odds were so high.

That’s okay. I should have said before - put that image into chat GPT for an explanation of the table. I found it difficult to interpret and that really helped me to understand it

OP, hoping for some good news for you today ❤️