1 in 13 chance of Down’s syndrome.

[EmmaLouMarshall]

I am 13 weeks pregnant and already had a roller coaster of a pregnancy.After having a mc in November last year, I fell pregnant again in `February, I started bleeding at 8 weeks, an early scan at 9 weeks showed a heart beat.I then had continuous light bleeding and had a private scan at 11 weeks, baby was fine, 12 week scan all looking good, still light daily bleeding. Just as I was starting to accept the bleeding as normal, and starting to relax slightly, I today received a call from the hospital to say that my combined test deemed me to be high risk of Down’s syndrome, a one in 13 chance. I opted to pay for a private Iona test today and am now waiting for my results anxiously in a weeks time. Has anyone else experienced this? My NT test came back absolutely fine, but I have a low Papp A score of 0.33 and hCBG of 2.19. Not really sure what this means. Any advice would be greatly appreciated.

Good luck. I didn't have a detailed scan with my twins as twins are quite complicated. However I would says 1 in 13 means it is very likely to be okay surely.

I'm sorry your going through this, I know it's stressful. I fell into the high risk category for the combined screening and I did a lot of reading up about it while I was waiting for my harmony test results.

Regarding the blood test results. 1 MoM is 'normal' for HCG and papp a. So in your case your hcg is double the 'normal'. Your Papp a is also on the low side (anything less than 0.4 is considered 'low'). Now high hcg and low Papp together a can sometimes be a marker for down syndrome which is why your result has come out high. But you'll see lots of women on this board who had similar results to you and everything was fine. The combined screening test casts a rather wide net in order to capture as many true positives as possible, in doing so, many women receive false positives.

The fact your baby's NT measurement was 'normal' is an positive sign. I read that 65%-70% of baby's with one of the 3 main trisomies have an elevated NT measurement.

Finally, I know 1:13 sounds scary but that's still a 92.3% chance that your baby doesn't have Down syndrome. The NIPT (Iona) test is highly accurate and will give you an almost 100% result and hopefully you'll get the result you're hoping for.

Thank you so much. I have been doing some more research and the fact the scan shows a strong nasal bone is also a positive. The NT was 1.6mm which is normal and in no way elevated. It’s still going to be a long week. I really appreciate your response.

No helpful advice really other than to say my mum was given a 1 in 10 chance of my sister having Down syndrome - she is now 15 and perfectly fine and doesn’t have DS, so even though the odds might seem high it doesn’t necessarily mean your baby will have it and your chances are still good

Hi,
As previous poster said, I have very low pappa and very high bhcg. The NHS test gave me a 1:36 risk.
I had the harmony that gave a 1:10000 risk, so in effect no risk. I also had an in depth scan with foetal medicine that checked baby's organs etc.
Baby according to scans measured 6-7 weeks behind, I did have regular bleeds, horrific hyperemesis, but more importantly my baby was fine perfectly.
And is now laying on the floor next to me, way past their bedtime!
I read that 70%of the NHS test high risks are false.
For me the outcome of the harmony wouldn't have stopped me continuing with the pregnancy , but would have given.me time to work out all the potential outcomes around birth to ensure my baby's needs could be best met.

Hope that helps.

I had a 1 in 13 chance too just before Christmas. Your measurements are similar to mine...normal nuchal measurement, no concerns at the scan but hcg of 2.0 and low papp a of 0.37. I'm also 40 which I'm told makes a massive difference. I opted for NIPT too and it came back 'highly unlikely'. I'm now 38 weeks and everything is going well with the pregnancy (apart from the stressful covid situation). Because of the low papp a I've been on 150mg of aspirin daily and have had extra scans which you may be offered too. Good luck waiting for your results... It is the worst bit but as previous posters have said theres a 93% chance all will be fine.

I had very similar! Had a CVS, result was negative for downs. I have 4 weekly growth scans from 28 weeks onwards because low PAPPA A can cause problems such as a higher risk of 2nd trimester miscarriage, stillbirth and IUGR. Not a very high chance though, but they like to keep tabs. I expect you will also be consultant led now. I see my midwife like normal but, every 4 weeks I have a scan and then a review with my consultant :) xx

I also had similar, 1 in 6 chance, I’m also 40. It was very stressful and worrying, I had the NIPT that showed baby was fine

Thank you for all your responses, I am trying to be positive, your experiences have given me some hope.

Hi everyone,
I am in similar situation and I am full of stress.
I am pregnant in 17 weeks and I have change 1:13 baby to have Down Syndrome.
Nipt also came hight risk.
Today I done diagnostic test Amniocentesis.
Tuesday I will receive the result.
Everything looks perfect to scan .
I am just confused 😕

Anyone else in similar situation?
Thank you

I am so sorry I can't remember well about the other medical factors you mention, but I had one in 4 odds for my last two children (I was 38 then 39, after being 30 then 31 for the first two, after a stillborn at 29 (anencephaly - horrible, but completely unrelated). We had the difficult decision on whether to have amniocentesis to prove it one way or the other. I was pretty much against it, I suffered quite badly mentally after the first baby died and said that I would be happy for all that came, regardless of downs. I also did not want to risk another baby dying due to the amniocentesis process (I think it is low, but 1 in 100ish) My physician recommended it, and my OH also was in favour. I eventually did have it with both. Not because I would have changed the outcome necessarily, but because I wanted to have a bit of warning that the baby would have downs and to expect a slightly different life for us all. Both came back clear. I'm glad I did what I did now (amniocentesis). I see that @MariaAyla has done the same and is waiting for results. It is such a stressful time, so much to weigh up, and there is not much comfort I can offer, but I am hoping for the best for you 🌻xx

@sjpkgp1 Thank you for your answer
You are a very strong mum.
Unfortunately I don't know where I can find more informations .
I am 39 years old ,I have 3 girls and I am sad because a one gp error of calculations of my due date I had first scan at 15w first scan.
They take blood aswell and after few days they call me and said 1:13 you have chance to have down syndrom baby
Next day I been for NITPtest and that was came back hight risk as well

The midwife said is still no 100%sure
Today I done amniocentesis .
Everything looks perfect to scan ,baby have nasal bones,kidney,heart looks perfect
Only I am asking if it is possible the baby with Down Syndrome looks perfect normal to scan?
If was to know the NC was a different situation?
How many pregnant mums with NITP high risk after amniocentesis received a negative result.
.Thank to everyone in advance.

@MariaAyla. Thank you, and please please try not to worry, the odds are completely in your favour. You have had the amniocentesis test. You have done everything you can at this point, and you can literally do no more but wait for the results. I cannot answer the question "is possible the baby with Down Syndrome looks perfect normal to scan?" because I didn't have a downs baby, but maybe there is someone in mumsnet that did and everything registered as normal at the time. When you get your results from the amniocentesis (which by the way I feel overwhelmingly will be fine) you can ask the question "is there any chance that it could be wrong" but I suspect the answer will be no. As an aside, they are 100% sure when they do the Amnio what gender your baby is. Because we already had a boy and a girl, we were happy with either and chose to be told each time. Everyone feels differently about this one, especially if it is your first, but for us, it was nice thing to know, and a small recompense for what we had gone through with the whole Amnio thing.

Combined screening has a really high false positive rate. I always advise women to think of it as a test that tells us which women need more accurate screening rather than a test which tells us which babies are high risk. The NIPT is now available on the NHS so not sure why you needed to go private but it’s very very accurate (almost diagnostic) so should put your mind at ease.