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. 💛

But I guess that is a valid viewpoint relevant to the situation op is in.

OP sorry you are going through this. I don't think there is a wrong decision.

Hope you’re doing ok op

How are you doing OP? I really feel for you.

How are you doing OP?
My last pregnancy my daughter had DS however had a large cystic hygroma which measured 6mm so was very obvious something was wrong, I did have a TMFR.
This current pregnancy I had an NT of 2.7mm so not that far off yours, and my NIPT has come back low risk. I didn’t have the combined test this time as I get to go straight to NIPT because of my history.
I know an NT under the threshold doesn’t mean it isn’t Down syndrome, but I just thought I’d share what happened with me in case it gives you any reassurance in any way x

I have two now grown sons that were born with visible birth defects. Not Downs. A person I barely knew sent me this poem in the post and I have kept it in mind for many years (please forgive if you know it). I cannot imagine how difficult the wait is for a definitive answer but mumsnet is here for you.

Welcome to Holland
When you’re going to have a baby, it’s like planning a fabulous vacation trip – to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It’s all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland.”
“Holland?!?” you say. “What do you mean Holland?? I signed up for Italy! I’m supposed to be in Italy. All my life I’ve dreamed of going to Italy.”
But there’s been a change in the flight plan. They’ve landed in Holland and there you must stay.
The important thing is that they haven’t taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It’s just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It’s just a different place. It’s slower-paced than Italy, less flashy than Italy. But after you’ve been there for a while and you catch your breath, you look around…. and you begin to notice that Holland has windmills….and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy… and they’re all bragging about what a wonderful time they had there. And for the rest of your life, you will say “Yes, that’s where I was supposed to go. That’s what I had planned.”
And the pain of that will never, ever, ever, ever go away…because the loss of that dream is a very very significant loss. But…if you spend your life mourning the fact that you didn’t get to Italy, you may never be free to enjoy the very special, the very lovely things … about Holland.
by Emily Perl Kingsley

@intrepidgiraffe
thank you so much for your message and for thinking of me. I’m basically just surviving right now. I’ve been trying to focus on work during the day and go for long walks or to the cinema in the evenings, just anything to keep my mind off it.
But honestly, I don’t have any hope that things will be okay. I just don’t feel that lucky for such a miracle to happen to me. I wouldn’t wish this on anyone- getting a 1 in 2 result and then having to wait 7–10 days with that hanging over you is just horrible.
I might find out the results tomorrow, and if not then probably Monday or Tuesday. I’ve taken tomorrow and all of next week off work because I just can’t imagine being at work if I get that news.

@TinkerbellStarbright
Thank you so much for asking and for thinking of me. I’m honestly just getting through each day the best I can. I’ve been trying to keep busy with work and go for walks or to the cinema to stop my mind from running away with worry.
But it’s really hard... I don’t have much hope left at this point :(. The waiting is awful, especially after being given a 1-in-2 chance. I might get the results tomorrow, and if not then hopefully Monday or Tuesday. I’ve taken time off work because I just can’t face being there if that news comes through.

@Notsure31
Thank you so much for sharing that and for thinking of me. It really does help hearing other people’s experiences. I’m so sorry you went through that with your daughter, and I’m glad to hear that this pregnancy has come back low risk for you. That must be such a relief.
If you don’t mind me asking, do you remember what your hCG and PAPP-A levels were? I’ve been trying to understand how much those markers can vary. I was actually really unwell for about ten days before my combined test. I think it might have been flu or even covid and I’m wondering if that could have affected my blood results at all.

@momtoboys
Thank you so much for sharing this, it’s such a beautiful and touching poem. I hadn’t actually read it before, but it really moved me. It’s so kind of you to take the time to post it and to share something that’s clearly meant a lot to you.
I can imagine how much strength it must have taken for you to go through your own experiences, and it means a lot that you’d reach out to comfort someone else. I’ll keep these words in mind over the next few days while I’m waiting, they really do put things into perspective.

I'm so sorry that you've got this awful anxiety @TinyHeart and I hope you get your results before the weekend.

@Calliopespa
Thank you so much for saying that. It really means a lot to hear there isn’t a “wrong” decision, because that’s exactly what keeps running through my head right now. Everything just feels so impossible. I really appreciate your kindness and understanding, it helps a lot.

@TheBroonOneAndTheWhiteOne
Thank you so much for your message. I’m really hoping the results come before the weekend, but I’m just preparing myself for the worst at this point. I wish I could feel hopeful, but right now I just can’t.

So sorry you’re going through this x

@mumoftwo99x
Thank you so much. It really means a lot that you’ve taken the time to write.

I just wanted to say you sound like a lovely person and I hope it all works out for you.
My son had aspergers and o.d.d. and then was diagnosed with cancer aged 16. He passed away 2 weeks before his 21st birthday, but he absolutely lived life to the full and I don't regret anything.

OP I just wanted to send my support. I remember waiting for the results of our DNA testing being so horrific I can hardly put it into words- I thought I was going crazy. I have dealt with, objectively, far more immediately stressful matters with far more ease but there was something about the wait for results that that was very different.
I didn’t know how I was going to survive an hour, let alone days.

i just wanted to say, I also had a Friday maybe Monday situation and whilst it sounds like it’s only going get worse if the results don’t come tomorrow, personally I found it slightly more peaceful to know it was genuinely out of my control for 2 days and I wasn’t on edge waiting for the phone to ring.

ignore what anyone says to you about DS, especially idiotic comments about “loving them anyway”.
Bizarrely, I can’t even say the experience was so traumatic due to the potential for a DS child, there was something else about the…. Surprise, lack of control etc etc that hit me.

I’ll be thinking of you ♥️

You really do sound like a lovely person OP. I’m so sorry you’re going through this and will keep you in my thoughts. Wishing all the best to you.

As a sen mum this made me cry, thank you.

Im so sorry you lost your boy.

15 years ago this was (almost) me. I was given a 1:3 chance of Downs. NT was 4.6, HCG was high like yours (over 2) and PAP A was low, but I don’t remember how low. This was before NIPT so I had an amino. The doctors were convinced it was Downs.

The nurse actually rang me after hours on the Friday evening so that I did not have to wait all weekend. My DS did not have Downs syndrome and the doctors pretty much shrugged their shoulders after the results came back and said sometimes it happens. No one ever acknowledged the stress and anxiety it put me through for no reason.

I just wanted to say that sometimes even really high probabilities can go in your favour.

Take care of yourself.

I have looked it up: My hcg was 3.0 and papp a was 0.6. NT 4.6mm.

@Abc1weabc1
Thank you so much for your kind words and for sharing something so personal about your son. I’m so sorry for your loss...he sounds like such a special person who lived life with real spirit and courage. It means a lot that you’ve taken the time to reach out and offer kindness while carrying such a story of your own. ❤️

@Bambamhoohoo
Thank you so much for such a kind and understanding message. You’ve described exactly how it feels...it’s like nothing else, this waiting and complete lack of control.
I keep thinking I’ve handled stress before, but this is just different.
What you said about finding a bit of peace once the weekend came really makes sense. I think I’ll try to remind myself of that if the results don’t come tomorrow.
It really helps to hear from someone who’s been through this and understands how unbearable the wait can be. Thank you again for thinking of me and for your lovely words. ♥️

@chouxchoux
Thank you so much for your lovely message and for keeping me in your thoughts. That’s really kind of you.💛

@JKGalbraithsTable
Many thanks for your message and for sharing your experience . I really appreciate it. It honestly makes me feel a bit better knowing that someone else understands exactly what I’m going through and that your story had such a positive outcome.
I have to say, my own experience around the 12-week scan and blood test wasn’t great. During the scan the sonographer said everything looked fine, and the nurse who took my blood seemed cheerful and even asked if I’d told my work yet. Because of their attitude and what I was told, I honestly didn’t have any worries at all. Then three days later I got that awful call. I remember the moment they said “1 in 2 chance” I just burst into tears straight away because it was the last thing I expected to hear.
Your message really helps, though. It’s reassuring to know that even with results that looked similar, things can still turn out okay. Thank you again for taking the time to reach out and for your kindness.