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. 💛

@MyFlabbersAreGasted
Thank you so much for your kind words. It really means a lot right now to read something so gentle and positive. I’m hoping for the best and trying to stay calm while I wait. ❤️

@Seelybe
Thank you so much for sharing your perspective and your grandson’s story. It really touched me. You’re absolutely right, there are so many unknowns in pregnancy and parenthood, and hearing how much love and joy your family shares is really grounding.

When are your results due op?

Hi OP

First of all, my thoughts are with you as you navigate this terribly difficult time.

I've been there, although my situation was slightly different in that my 1st ultrasound (which I had in 2nd trimester) showed so many different anomalies that were so plain that even I could see that I was offered a TFMR on the spot. The team were very surprised that I hadn't miscarried.

I chose to have an amnio just to be absolutely sure and it came back as positive for Patau.

I terminated at 18 weeks and he was still alive during my labour. But as soon as he was born (stillborn) I knew there was no way he could have lived.

I'm so sorry you are going through this. Best wishes to you and your family.

@secreticanttell
I did my NIPT last Friday. They told me results usually come through about a week later, so either today or early next week (Mon/Tues). It’s 1 p.m. and still no news yet...the waiting is so hard!

Forgot to say, have you looked at ARC (antenatal anomaly charity)? I recommend them.

@RoseWilderLane
I’m so sorry you went through something so heartbreaking, and thank you for still taking the time to reach out to me. Your message really touched me. It means a lot to hear from someone who understands how frightening and uncertain this all feels. Wishing you peace and healing. ❤️

Hi OP, I just wanted to come and offer some support.

Due to a various issues I was always going to be at higher risk for birth defects and chromosomal defects so waiting for our combined result was bad enough, never mind being in the position you are in.

Thankfully our combined results came back fine so further testing wasn’t required, but the waiting and the fear and the anxiety was awful because I was resigned myself to fact there would be something wrong just because I knew I was a high risk candidate.

Me and DH had already agreed that if the combined result came back as high risk for abnormalities we would go straight for an Amnio and then we would terminate if any diagnoses were confirmed, but as I said, thankfully we weren’t faced with that scenario.

The best of luck with your results OP, I hope they come back as showing that your baby is well and healthy and that you can then go on to enjoy your pregnancy.

@RoseWilderLane
Thank you for mentioning ARC. I actually wanted to call them on Monday but I was feeling so weak and drained that I just couldn’t find the energy. They’ve been recommended to me a few times now, so I think I really should reach out.

@LondonLady1980
Thank you so much for your thoughtful message and for sharing your experience. The waiting really is unbearable, and it helps to know others understand that anxiety. I’m so glad everything turned out well for you, and I really appreciate your good wishes ❤️

OP - sounds like you are in a really tough spot right now. Hope the wait isn't too long for you. Whatever the outcome, you can only do what is right for you and baby. From experience, what I would say is that so often in these situations you only hear the worst. It can all become very medicalised and scary quite quickly. If this does happen, take a step back, catch your breath and turn to some of the great charities/support already shared.

I had a 1 in 2 chance of DS/Edwards/Patau with my first child. I have huge sympathy for you because the uncertainty was agonising. I now have a healthy, stroppy 13 year old who is unaware of the stress that they caused! Sending 💐

@punnedout
Thank you so much for sharing that. It really means a lot to hear from someone who’s been in the same position and had a happy outcome. The uncertainty truly is agonising, so your message gives me a bit of hope. I’m so glad your 13-year-old is healthy 💐

I've been thinking about you all day @TinyHeart

Is there someone with you while you wait?
So many women have shared their stories on this thread. MN can be very kind and supportive.

@TheBroonOneAndTheWhiteOne
Thank you so much for thinking of me, that’s really kind. I’m actually on my own today by choice. I just find that everyone around me ends up saying the wrong thing (even though they mean well) and it makes me more upset. So I’m staying in my little shell until I find out the result.
I really do appreciate all the support and kindness from everyone here more than I can say. It’s almost 2:30 p. m. now and still no call… even just thinking about my phone ringing makes my heart race. 💛

there isn't a fingers crossed for you emoji x

@YenneferOfVengerburg
Thank you! I’ll take all the crossed fingers and good wishes I can get!

I really hope you hear soon OP, try to hold on to the fact that while 1 in 2 sounds really high it still means there's a 50% chance that everything is fine - and that is a very good chance.

@purple590
Thank you for your kind words. It’s just really hard being stuck with this 50-50 and not knowing. I’ve kind of lost hope now. Still no call today, and I’m not sure they’ll ring. Your message means a lot. ❤️

My parents brought up two only children it seems looking back. My sister had Downs Syndrome. My memory of her is tainted by the restrictions of out family life. She could never speak words. She made sounds that we recognised. She could not go to school, so Mother had to look after her all the time. Still in nappies at 6 yrs of age. Not good tempered, frustrated by inability to communicate.
It was impossible for me to bring friends home she assumed they had come to see her and would not let them alone.
She had to go into a home because she started bullying my parents she was strong. She would not talk to me. I think she blamed me for something.
She outlived our parents by 10 years. Dementia set in at 50, She was 60 at her death after heart complications.

Sorry to have to tell her story, It seems disloyal but it really was not an enjoyable time. Father took it badly, she robbed me of time I should have had with him as I was growing up. He spent so much time with her to help and support Mother.

Thank you for sharing your story. It makes me feel a bit better about my likely decision which I hope is a compassionate one.

You might be alone today, but we are here with you.

@MiloMann
I completely understand what you’re saying - 100%.
This is exactly what I’ve been trying to explain to people who tell me that some people with DS can have a good life and that not all of them suffer. Your own experience proves that reality is so much more complicated. No matter how their health might be, they still face challenges and pain from being different.
I’m so sorry for what you and your parents went through, and thank you for sharing something so personal. I truly wish you all the best. ❤️

@RoseWilderLane
Thank you so much -that honestly means more than I can put into words.Having all of you here with me through this means everything. ❤️