1:3 for Downs Syndrome - looking for recent experiences please

[Silverlining2025]

Hi.. sorry, I know this has been posted before but most of the threads I seem to come across are a couple of years old.

So after more than two years of trying and a chemical pregnancy back in November, I found out we were pregnant again in March. They were unable to measure the baby's nf at our 12 week scan, due to baby's position, so I had the quadruple test a couple of weeks ago. Then had a call off the screening midwife a few days later to say that the results had come back as 1:3 for Downs Syndrome. I decided to have an amnio last Wednesday morning and was hoping to get the results before the bank holiday but nothing yet. Assuming we will have to wait until Tuesday now.

I think I'm just looking for someone to reach out to really as I have spent the past few weeks googling for every shred of information I can find. I feel like my world has stopped. I'm now 42 and my BMI is slightly raised. None of my blood work has been published for me to try and look into that either.

Grateful for any advice/experiences you can offer x

My advice is to spend the time deciding what you want to do if the foetus does have Down’s syndrome. You have the stats for what the chances are, so there is no point looking further into that. Other people’s stories of whether their babies did or did not have Downs will not change whether or not yours does.

Look into what it can mean to have a child with down’s, what support is available where you live, what family support you have, and whether you think this is a life you could manage and thrive in, as well as how you will cope if you terminate. As you may know, down’s covers a wide range of physical and learning disabilities and you won’t know how your child is affected until they after they are born.

I had a diagnosis of Down’s in pg a year younger than you, so I know how tough the situation you are in is. And that’s why I advise using this time to focus on what decision you want to make if you get a positive diagnosis, because it is a time critical decision.

Good luck and I hope all goes well for you.

If you haven’t already, call the ARC helpline as soon as they open again on Tuesday. Their support is so invaluable. I was in your position and they helped me at every stage and continue to help me now. The waiting is unbearable and it’s awful to be considering options when you’re in such a state of shock, but it’s all you can do. Sending so much love.

Facts :
1 in 3 is a 66% chance that the baby does not have DS. Stats look scary but if you think there is more chance that there is not an issue than that there is.
DS is a 'spectrum' and like Forrest Gump says you never know what you are going to get. Not being flippant but it is true.
Beware that if you do get in contact with charities and they put you in contact with families they may be on the mild end of the range - balance this with looking at groups like https://www.facebook.com/GeorgePosterBoy/?locale=en_GB.
( sadly my advice here comes from a friends experience where she went from terror at the confirmation of DS via amnio, to hope after contact with a charity where she met with very able children with DS to - 7 years of despair where the ultimate diagnosis is a child with DS, non verbal autism, heart issues (much worse than the scans showed) , breathing difficulties, behavourial issues, operations and 20+ spells in hospital)
This is not what you will get - but it is what you might get - and yes of course your child DS or not could have some of these issues obviously.
Good luck x

I can't advise OP, but give a hug and a handhold. After 4yrs TTC, I paid for the NIPT at 10 weeks during my 1st pregnancy, because I was 38. It showed Patau syndrome, trisomy 13. IMO this was more clear cut than a Downs diagnosis and DH and I had already discussed what we'd do if we got certain results.

You still have the amnio results to wait for. I know its hard, but until you get those results, you can't make many decisions. Have you discussed options with your partner? I agree, ARC can be helpful if the results are positive.

Sending hugs and happy to answer any questions you have x

I agree with @SoSoOuting . All the positive media stories are of children with the mildest form of down’s Syndrome. It’s a wider spectrum than that.

If you decide to terminate, I’d also advise looking in detail at the termination procedure and options. Its better to be well informed.

Hi @Silverlining2025

Your story sounds very similar to ours. We were trying for nearly two years. Experienced an horrendous miscarriage at 14 weeks and so began fertility treatment (not IVF).

We then got pregnant! At our 12 week scan we were told that the NF measurement was 4.5 and ended up with a 1:3 chance for DS. We were basically told that we’d be best to terminate and that it was probably going to be “bad news” (their words, not mine). We were devastated.

However, we had the CVS procedure and got the all clear for all chromosomal abnormalities. We now have the most beautiful, happy 12 week old boy.

I don’t want to give you false hope, but I just know that when I was in your situation I found stories like this helpful. Ultimately, as others have suggested, you need to decide what you’d want to do if the result did come back saying baby has DS. There’s no wrong or right, it has to be what’s best for you and your family.

Wishing you all the best. If you want to, keep us updated with how you get on x

Thank you all so much for taking the time to respond. My husband was reluctant to think about any of the negatives at first but I needed to consider every avenue and choice, good and bad, whilst I am still thinking clearly enough to try to take it in. That's what I have spent the past couple of weeks doing.

I am completely aware that other peoples stories will not change our outcome but as posted above, any tiny shred of hope is better then spending our days in utter despair.

I'm pretty sure I came across your origional post this morning. Thank you so much for taking the time to come on and share your experience with me. I'm so glad to hear that you got your happy ending x

Hi.. thank you so much for your reply and for sharing your experience with me. I have looked high and low for information and the screening midwives sent us the details for ARC. I have found a lot on their website. When I had my eldest, (20 years ago!) I declined screening because I was going to have the baby regardless. We're both now in our 40s and I have three other children. We have to consider all the effects on everybody and are pretty sure that the best thing would be not to continue if the result is positive, as heart breaking as that would be.
We had a private reassurance scan at 10 weeks and they gave us the information for their NIPT but as it was quite expensive, and I had read that it might be something we would be offered through the NHS anyway if we were high risk, I didn't take it. Honestly, of all the things I have spent the past few months panicking over, this didn't even come into it. Even when I started getting the missed calls off the hospital, I never even considered that it would be this bad. I wish I had paid for the NIPT now. Especially as I am now 17+2 weeks x

I was told the same and I remember the panic. My DS is fine. I feel the fact that I was having a 'geriatric' pregnancy pushed them to give me those results. I remember the testing company rang me to confirm my age.
My DM was actually told that I had downs when she was pregnant with me and she had luckily decided to keep me anyway. I don't.

How are you doing @Silverlining2025?