Down's syndrome testing

[T1623]

Hi, I wondered if anybody had any similar experiences they can share regarding Down's syndrome testing. Following my 12 week NHS scan I have today got a call saying there is a 1:59 chance that the baby has DS. Having spoken to the midwife I have booked for a NIPT test for tomorrow morning, but right now I don't know what to think and feel a bit lost! It's going to be a long week wait for the results, if anybody has experiences to share that would be amazing x

Try not to worry, it’s quite easier said than done but the odds are still very much in favour of your baby being perfectly healthy.

I was told my risk based on my age alone would be 1:112. I opted to skip the nhs combined screening and go straight for a SAFE nipt test. We then got results of 1:100,000 for each of the trisomies.

I did loads of googling before hand and read tons of stories where women had had results as high as a 1:5 risk and things still turned out fine following further testing.

Good luck xx

Thanks @Moominmiss, it's taken me a bit left field I think. I have read a lot of conflicting information about the initial NHS screening too where people have had really high risks then when having had the NIPT it's really low, so fingers crossed. Just seems a bit strange and hard to follow at the moment. Need to find a way to chill out as I'm stressing myself out at the moment! X

It's really hard, but remember the screening is based on factors placed into an algorithm so that they can weed out those at higher risk to test further. Higher risk in that context is still low risk, but the results of the NIPT will hopefully bring you some clarity.

When it stresses me out I try to just think that we're so lucky as expectant mothers to have these tests and options available to us, regardless of the outcome it helps us prepare and think through the possibilities. I hope the further testing goes well for you.

@T1623 I know it’s really really hard but I went through this myself 6 weeks ago. Had the call and had a NIPT test on the NHS. Had to wait 10 days for my results but it all came back fine 1 in 100000. I think if nothing was said at your scan it’s a good thing as they can often spot problems at the scan (my nuchal measurement was slightly bigger than ideal). Just wanted to share my experience with you as I know it’s very hard!

Hi @T1623. I can share my experience. My screening came back as 1 in 14, as you can imagine, I was beside myself. Ended up having an Amnio because the NT was high too and it came back as clear for all three trisomies. We are 2 weeks away from 20 week scan but have had scans at 14 and 16 with consultant (once to try a CVS and once for Amnio) and nothing untoward was seen. So feeling v optimistic. PP is totally right that these are screening tests aimed at identifying a population for further testing. Odds are still v much in your favour.

Hi @T1623 - we had similar recently. Original results said 1 in 70 so we had the NIPT test. Waited just under a week for our results which came back as 1 in 100,000 and there has been no indications of any other related risks since. Research showed us the original results were likely as a result of one hormone being particularly low, we still don’t know why!

Wishing you all the best.

Thanks everybody for the replies. I had the test done today and I feel rotten now, I'm slowly convincing myself that it will be bad news and need to switch off from it but that is easier said than done. Hoping the results will come sooner rather than later as the hours are already dragging!

Have been through something slightly different but similar worries and lots of googling!!!! 1 in 59 gives you a 98% chance of everything being ok so try focus on that rather than the bad outlook. I stressed myself out so much that I look back now & regret over thinking it all.

Thanks @Newmum110 you're right and I am completely overthinking it all. I had a straightforward pregnancy with my first however this time there's been a lot of issues with me and I think I was so wrapped up in everything else that this really caught me off guard - not that you would ever expect it if you know what I mean!!
It's quite hard getting your head around it all too, one minute I feel ok then the next I'm full of a dread and sinking feeling. Still, the sample should be half way to the lab right now... few hours less to sit rocking in the corner 🤦🏻‍♀️ x

@T1623 sorry you have the wait and the worry. I had the same last pregnancy with a 1:90 chance and everything turned out to be fine. It doesn't stop you feeling crap though- I remember crying a lot and it took quite a few days for my result so I was convinced they were double checking it because it was positive.

Do you know what caused you to be higher risk? With me it was a combination of high HCG and low papp-a (the NT measurement was normal).

It's very very likely that in a week's time you'll have that reassurance and this will have just been a blip on your radar

Thanks @Choclover89, it's scary isn't it 😞 fortunately it seems that the majority of these tests come back negative so hopefully it will be fine.

Did they say why your two measurements were out or what could have caused it? My NT was normal but they didn't say which other was raised / lower so not sure what's caused the result x

Yes they asked me if I'd been very sick as apparently they think there could be a link between high HCG and bad sickness - I had been very sick. Then the low papp-a (which is something produced by the placenta I think) can just be a random thing.

Apparently women who have a down syndrome pregnancy often have a combination of high HCG and low papp-a so this is why I flagged up. I was monitored more closely for the rest of the pregnancy because of the low papp-a but nothing came of it!

I've been very sick this pregnancy and when I got my screening result I had very high HCG again. My papp-a was low but not as low as last time and my risk was 1:200 this time. We've decided not to have a further test this time.

Hope you are doing OK xx

Yeah that makes sense and good to know @Choclover89 that the risk is a lot lower this time!

I'm driving myself crazy to be honest and while I know there's nothing I can do I just can't stop thinking about it and getting upset. Does anybody know if results come in over a weekend? My midwife called today to see how I was and she said it's not that often that results take 5 days to come back but given that it's almost the weekend I wasn't holding my breath of finding out before Monday. Unless the hospital work over the weekend? I know the lab does. Not that I'm being impatient or anything.... 🤦🏻‍♀️