High risk Down’ Syndrome

[Lmox]

i feel so broken. I’ve just had my combined screening results from NHS. it’s comeback 1:5 for downs and 1:123 for Edward and Pataus. baby has an NT of 3.2. I have CVS booked in for Tuesday but it feels so far away.
the midwife said it should hopefully help us find out ‘what is wrong with the baby’ not ‘if there is something wrong with the baby.
i asked in her professional experience does she think there is something more likely wrong than not and she said yes.
i suppose Im just looking for support from people who have been through something similar. I already have a child with severe disabilities as a result of an unrelated genetic condition

I don’t have experience with this but didn’t want to not reply after reading. I’m sorry you’re going through this. You don’t know the outcome yet and based on those numbers though there’s still more chance that baby doesn’t have those conditions. Though I understand why what the midwife said is worrying 💜

Surely they should offer you the actual genetic testing? I had it with my second child. It’s a simple blood test but they are able to find the baby’s DNA in your blood and screen it for most disorders.

The midwife sounds very unprofessional, I think you should ask to speak to someone else.

Sorry that you’re in this situation, the uncertainty must be so difficult

I'm sorry you are going through this. That is still an 80% chance of everything being normal. I'd paid for NIPT before the combined screen and it showed Patau syndrome. The NT was 6.5mm and there were obvious issues on a more detailed scan. I chose TFMR.

You might find advice from the ARC website helpful.
https://www.arc-uk.org/

Wishing you all the best on Tue but if you have questions please ask or PM me x

I think the midwife here was speaking in statistics and trying to be frank, but in the midst of it has forgotten you're a human being who has gone from excited to frightened in the blink of an eye.

Life with a disabled child, whether discovered in utero or postnatally can be incredibly challenging and those first few years can be really scary, and take a huge toll on interpersonal relationships, however it can also be really rewarding and fulfilling and so full of love.

Do you have a good support circle at home with friends and family OP? I would start talking to your support people now about what you need from them now, and what you may need from them in the future, what sort of availability you'll be asking of them and whether they can provide it. Sometimes having an idea of how the first 5 or so years of life will need to be can really ease some anxiety if you have plans in place and wish to continue your pregnancy. Think of it split into 2 categories, who can offer practical support and who can offer emotional support, and delegate what you need.

Whatever life has to offer for you now, it is important that you realise you can ask for this help. You can put your wants and needs first, and you are so very important in both a personal and medical capacity.

Hi Op, I really recommend you get in touch with ARC as they are really helpful and informative. The waiting is really tough… sending best wishes

Thank you.

i already have one severely disabled child and while he is the light of my life, i dont have the capacity to do that again. I do not have a great support network.

Can you test for the older child genetic condition ?
While some are de novo there can be mosaic meaning a sibling has same condition

Hi, I can't speak for Edward and Pataus but I had a high downs score for my 3rd child (1:11) and my relatives have had 1:1 and 1:2 and none of the children have downs syndrome. It is a risk but not a guarantee, hopefully the CVS will show a healthy baby still. And 1 in 123 still means that 122 of those babies won't have it, so the odds are still good. Sending strength and hugs, it's unbelievably hard so I hope the time until Tuesday goes quickly for you 🫂

Yes, I’m already testing for this

But it’s not related to the potential Down’s syndrome increased NT etc, his condition doesn’t present in those ways, so it’s just bad luck that something else has been picked

Recently been through this we had an nt of 4.8. we weren't told the combined screening stat as the NT was already so high so seems there would definitely be an issue either chromosome or heart issues as there were also a couple of soft markers including single umbilical artery (SUA) CVS came back all good and so have have all the scans ( we had extra 16 weeks scan. Anatomy and heart and had the same again at 20 weeks) these were all done at fetal medicine and so was the CVS test. We are now no longer being seen by fetal medicine and back with normal hospital. We do have to have some extra growth scans due to the

The doctors were always very direct and to the point and they way they spoke we just felt like bad news was inevitable but I did always feel in safe hands with them.

Sorry you are going through this. All the waiting is really hard.

really glad you had a good outcome! Xx

"the midwife said it should hopefully help us find out ‘what is wrong with the baby’"

It is awful in 2026 that the midwife said this. The language used is so important in this situation and saying it this way could be really damaging and unhelpful to hear. I'm just so sorry it was handled like this for you.

We also had a nt of 6.6 last year and baby had pataus. But when researching many nt of around 3/4 had successful stories. Fingers cross for you xx