High risk Down’s syndrome but no CVS

[LauraF85]

Hi
I’ve only just signed up as wanted somewhere to talk about my screening results. I’m 12 weeks pregnant with my first baby. Had my scan last week and 4 days later I got the awful phone call to say my results showed high risk for Down’s syndrome. 1 in 7. Myself and my husband had a midwife appointment yesterday who filled us in with all the available options. She told us that the NT was just 1.2 so pretty normal, my age was 1 in 500 (I’m 33) it was my blood that made the result so high risk.
Papp A 0.20 and Hcg 2.81.

I’m just finding it hard to understand why it’s such high risk of it’s just my blood?
I have 100% decided not to have any further tests as I want no risk whatsoever of losing my baby as I would keep it either way any way. I’ve read multiple stories of how so many babies that are high risk and born absolutely fine, whereas people with low risk have had kids with Down’s syndrome. So how are these tests even accurate? It seems they are just there to worry us. Now I have 6 months to go and feel like I’m not going to be able to enjoy my pregnancy like I should.

Anyone else going through this and not having the Cvs?

Thanks in advance.

Laura

I had the exact same thing happen with this pregnancy due to a low Papp-a & ended up going for the NIPT screening and getting the all clear. It's such a confusing time & if I'm honest the midwives at the hospital didn't really give us that much info so you end up even more confused. The test we went for is just a blood test where they test the babies blood for any genetic anomalies & a scan so no risk to the baby.

Hi, just to say the NIPT is not a diagnostic test, it only gives a “risk” ratio (much more accurate than the nhs combined test but not 100%). You’d need an invasive test such cvs or amnio for 100% certainty.
I haven’t been in the same situation as we declined the screening for Down syndrome as it wouldn’t have changed anything for us (we wouldn’t have had an invasive test either), we had a postnatal diagnosis of Down syndrome. Our little one is everything we wished for when ttc, a happy and healthy baby
Sending you best wishes for the rest of your pregnancy, try to relax and enjoy it as it goes really fast! x

Thanks
I was told about the non invasive test but this is very expensive and it seems that it still doesn't give a yes or no answer so I don't think it will bring much more comfort to us. I'm just trying to keep positive as the odds appear in my favour. 86 % chance baby is fine 😊

Hi OP, I didn't want to read and run. Firstly I'm sorry about the result, it's horrible when you're so excited after a great 12 week scan and then you get that phone call. I remember it vividly. I was 23 during my first pregnancy and my risk was high at 1 in 35. Like you I knew I would keep my baby either way and so declined the amnio and CVS. In the end I gave birth to my happy and healthy little boy at 38+2, who is now a happy, healthy and busy nearly 4 year old who does not have Down's Syndrome. These tests are not diagnostic and can only give a risk ratio (and added stress if you're high risk!). I know it's easier said than done but if you know it wouldn't change anything, try not to worry and keep positive, the odds are still in your favour. I wish you all the very best xx

The NIPT results give a less than 1 in 10,000 if the results are negative (mine did anyway). I had that and didn't do the screening as knew I would end up going for it anyway as was so much more accurate. It's a personal choice though. It can be expensive. Ours was £350 but it varies I believe.

I had a 1:5 chance, stupidly I pinned the actual results to my mat notes which got taken away. I did opt to go for cvs and the results were negative. If you want to keep your baby regardless I wouldn't have the cvs like you say - but it would give you a definite answer quickly. So sorry you're going through this...it's horrible and such a shock

My chance of having a baby with DS was 1 in 3. My area was trialling the NIPTy test on the NHS and I had it free - it was a massive relief to have an answer. No it’s not 100% diagnostic but it is extremely accurate - ours was something like 99.5%. I didn’t and wouldn’t have the CVS/amino.

My little girl is nearly 3 now; a happy, healthy and active little terror. Oh yes, and she happens to have Down’s Syndrome - but that’s the least important, and least interesting thing about her.

I had a low PAPP-A and high hCG. I had an amino which was negative. My consultant thought I’d had a very early failed twin which had skewed the hCG reading and therefore the screening tests. I think my risk was 1:17, but can’t remember.

The NIPT is very accurate (especially for DS) and a low risk result should provide some reassurance as it's much, much, much less likely to be wrong than the nuchal screening. If the result is high risk you can decide what (if any) further testing you want to have and prepare a bit more for baby's arrival.

I've had the harmony test in both my pregnancies and declined the NHS screening. As the tests look at the baby's actual DNA I found it much easier to be reassured by the low risk result.

Best of luck whatever you decide.

My risk of down’s was 1:5 so I took a deep breath and had an amino. And actually it surprisingly calm & pain free, The man who did it talked through the process, spent lots of time explaining things and was obviously very skilled, and there were nurses to support me while it took place.
Ds is fine, born at 41 weeks, safe & sound.

I was given a 1:7 chance from the combined screening. We opted to have the CVS at the Fetal Medicine Centre in London. We found that our daughter has no chromosome issues.

Totally agree re: NIPT however at the time I just wanted to know as soon as possible and as accurately as possible.

The whole experience at the FMC was brilliant and I would not hesitate to recommend. I chose the FMC as I thought that with a procedure that does carry some risk, I wanted a top consultant doing it to minimise that risk.

The added bonus was that was the first and only time we had a scan done by a really knowledgeable doctor so the whole experience was really empowering in terms of knowledge and understanding. I felt I really bonded with my baby during that scan regardless of the future outcome of any test.

Only you know what you and your partner need to do for your own peace of mind.

Thanks everyone for your comments and experiences. I think I'm just going to continue as I am and not worry. Because really nothing bad has actually been confirmed. It's just a percentage they have got from my bloods which I've been told are really inaccurate. So all is good. Baby is ok so will remain positive! 😊👍🏻😘

Thanks for all your messages on this subject. We have just had 1:20 result and it is reassuring reading other people’s experience of these tests.

I had a 1:5 score nine years ago. DH and I decided to view it as a 4:5 chance that our son wouldn't have Downs. He didn't. He was born very prem, IUGR, and now has ASD and is deaf ... but definitely no Downs

I feel your worry, I went for my first scan on 3rd of this month which was the happiest moment of my life to date, to then get the dreaded phone call just days later with the "bad news". It's all so confusing, my results came back low risk at first but some hormone Level was 17.6 and the highet they accept before it's High risk is 5 so this put me straight into High risk category. I asked the midwife straight out whats my chances and she was honest and told me straight out they don't know where I sit on the levels so to be "safe" classed me as High risk. I honestly wish I never got the test done as now it's caused nothing but worry and anguish for myself and my partner. I'm booked in for Dec to have an Amniocentesis but in all honesty I don't think i'll go. My pregnancy has been a breeze until now and I've always felt great. My mum has always said "You have mothers instinct when you're pregnant and if something isn't right deep down you'll feel it". I'm going with that theory to stop the worrying because mothers always know best and I feel great other wise. I hope your worry has subsided and I'm sure all will be well. Sorry for the essay

Hi sorry you're worried. It's such a shame there's so much fear of the condition Down syndrome. 14 years ago I paid for private tests and had extra scans because I believed I didn't want to have a baby with a Down syndrome. Results weren't great but after recurrent miscarriages didn't want to risk an amino so ploughed I'm hoping and hoping my baby would be ok.
When Tom was a day old and Dr expressed concern he had Down syndrome, my world fell apart... I was devastated, we considered having him adopted as that's what friends had done just a few months before. I sobbed, I mourned the baby I'd hoped for and basically thought our lives were over. What an absolute waste of time and energy that all was!
Having a child means we adapt - generally having a baby means a change in life style, we no longer go out as many evenings, no longer party through the night, zip away for spontaneous weekends etc, but do we mind? No, because we have a baby we love and choose to forgo the previous lifestyle because we have a new one and we love it. When choosing holidays with a toddler we consider what will suit them, family friendly with the facilities they need, places they'll enjoy, terrain that accommodates a pushchair etc. We don't see it as a negative, we see it as a change that we accept because we do what works for our beloved child.... it's the same with a child with a condition such as Down syndrome, we adapt but we still enjoy and we certainly still love. Not sure I'm explaining myself brilliantly, I was terrified of Down syndrome but now realise it just means life is a little different, but that's parenting and different isn't necessarily bad. We still do all the same things we'd hoped to do, been on fantastic holidays, we have our own business we enjoy, eat out with the kids, enjoy our lives. Tom won't go to uni but he's living secondary school. I have no doubts that he won't have a job, a partner, live in supported living, enjoy his life, continue to be loved and valued by his family & friends
Please think again folk about Down syndrome. I find it rather offensive and upsetting reading how much people don't want a baby with Down syndrome, but I understand. I was afraid and ignorant so talked about 'risk', now along with NHS England we refer to the 'chance'. I thought I didn't want a baby with Down syndrome. Now I'm forever grateful that I didn't know for sure as I may well have made a big mistake.
Enjoy your pregnancies ladies and take some time to read our experiences on www.positiveaboutsownsyndrome.co.uk to gain an honest insight into the reality of living with Down syndrome. Thanks for reading....

I had a 1 in 30 risk of my baby having downs syndrome. We discussed the results and decided to go ahead anyway but we were offered a heart scan of the baby mid way through. Our daughter was born slightly premature but was fine.

We were 1 in 7 due to bloods too and our baby was fine. Try not to worry.

I am now 19 weeks pregnant and this test has completely gone to the back of my mind. I'm currently not even worried I'm more looking forward to the 20 week scan just after Christmas just hoping all ya ok with that. We heard the baby's heartbeat at 16 weeks! So amazing! ❤️😍 Thanks for all comments x

Are you getting additional monitoring for the additional risks flagged by low PAPP-A?

Aw LauraF85 it's such a lovely feeling hearing your babys heart beat, wait until you're 20week scan, unreal feeling. I just had mine at the weekend and it was the best sight ever seeing my baby grown so much and kicking about. We decided not to go through with any further tests and decided no matter what our baby is our baby and we'll love her no matter what. Enjoy your pregnancy and embrace all of it, thats what I'm doing x

Yea I am getting additional scans because of the low Papp A but I know a few people that have had that as well. Just means I get to see baby more which is nice. Just 9 more days til my scan. 😊 yea I think we felt the same that nothing would change unless baby had a serious life threatening condition, so why need additional tests and out its life at risk. 🤷‍♀️x

It’s great you’re feeling positive about it. I also had low Papp-a and extra monitoring and we did have some of the negative impacts of low Papp-a, but fortunately are both fine now. We could see from the twenty week scan that my DD was smaller than expected, so try to be prepared for a full range of information you might receive when you have it.