Greater than 1 in 2 chance of Down’s Syndrome

[WaitingWorried]

Hi everyone. I’m not really sure what I’m hoping to achieve by posting here, maybe a hand hold? Maybe some positive “against all odds” stories? I apologise if I ramble. I’ve name changed but have lurked here relentlessly for the last 10 days.

I’m 36 years old and 13 weeks pregnant with my third child and have been blindsided by a raised NT measurement of 3.6mm and really high HCG and low Papp A levels. We spoke with the midwife who arranged NIPT and had all my bloods taken last week. The results of those came through on Monday and we’ve got a “greater than 1 in 2 risk” of Down’s Syndrome. Has anyone else had a risk this high? I’ve seen so many people say they have 1:5 or 1:12 but rarely 1:2

We saw our fetal medicine consultant yesterday and I had a CVS test so now I’m feeling bruised and uncertain about what the future holds. The waiting for the test results is just torture!

Hi @WaitingWorried sorry I can't offer any positive story personally (I'm waiting on NIPT results myself), but didn't want to read and run. I have seen posts before on here where people have received positive NIPT results but the CVS/Amnio came back clear. I hope your results come back clear, the waiting is the worst part - thinking of you

I am 36 I feel your pain, and 3.6 is not that crazy high,I heard happy ending stories with numbers like that.50% chance for good result so fingers crossed xxdid your scan have some abnormalities?

OP, that news must have been a massive shock. I don't have any miracle story to tell you but I did want to share a website,

positiveaboutdownsyndrome.co.uk/

I heard about it on the Radio the other day, I was so struck by what the lady was saying about how devastating a high risk of Downs is during pregnancy, and modern testing makes us terrified of this risk and what it means for us and our babies. The website was made to help people through the fear, in the event they don't want to abort a pregnancy or they find out too late. Obviously the website is entirely biased (clue is in the name!) but maybe it is a useful thing to read about other mums' experiences who have been through what you are going through.

Thinking of you x

Thank you all for your kind words. While I wouldn’t wish this on anyone it is somewhat comforting to know I’m not alone in this, I truly hope you get good results too @Bright81

The scan showed no abnormalities, other than the slightly high NT. Foetus had strong heartbeat, nasal bone visible, all organs looked good and the size was good for the dates. We didn’t even think the NT was really that high but apparently even if it was “normal” they would still have put me in a higher risk category because of my bloods.

@SillyOldMummy thank you for that website, I’ll be scouring it this weekend! I’ve been looking for that kind of information but not known where to start and my head is already swirling with stuff I’d never really even heard of 10 days ago.

Parts of Mumsnet can be quite catty but this little bubble is wonderful. Thank you xx

We had a high risk of Down’s from the triple test, had a cvs which was negative. DD born and is fine.

Would you mind tell what was NT? My one was 2.2 and it is in range but make me do Harmony wich start a hell with low fetus dna

@WaitingWorried Thank you, it's such an anxious time. It sounds like your scan was really positive, very similar to mine. I would try and focus on that whilst waiting for results. Have you read anything about confined placental mosaicism? I am not 100% sure exactly what it is but I have seen two ladies on separate threads that received this result after a positive NIPT and then further tests for diagnosis. Fingers are crossed for you xx

Hi WaitingWorried,
I completely understand what you are going though! I’m 36 and 13 weeks pregnant as well. however this is our first child as due to a medical misdiagnosed years ago we thought we could not have children but when I moved I saw a new team who confirmed we could get pregnant. We had our 12 week scan on Tuesday and was given a raised by of 3.7mm my blood then came back as hcg 2.7735 mom and papp-a 0.3115 giving us a high chance reading of 1:4. We have chosen to go with the harmony blood test before we decide to do the cvs test. It is absolute torture but as my husband keeps telling me try to look at it as glass half full you have a 1:2 chance everything will work out. I know it’s hard to do this tbh I’m not having much luck with it myself but we have to keep going. X

@WaitingWorried I'm sorry you're going through such an awful time. Did you discuss the results and what they meant with your consultant? I found there is a massive information gap in the NHS that I was left to fill for myself regarding what a positive NIPT result meant for us.
Most 'high risk' results that people refer to on MN are from the combined screen not the NIPT and happily a lot of those are given a clear result following an amnio/CVS. I don't recall seeing any threads where a t21 positive NIPT was cleared by CVS, but I would dearly love to be wrong!

I was walking in your shoes two months ago following an NT of only 3.3 (due to my age we had decided to have NIPT test regardless of NT) and my NIPT result was the most devastating phone call I've ever had. The data is slightly different for each type of NIPT (eg Harmony is one type) but from the research I'd done, I knew the chance of a false positive in my circumstance and age was very low 😔

Incidentally the NIPT (and eventually our amnio) was positive for t21, but my NHS combined screen 'only' gave me a 1 in 6 chance of t21. Same as you, my NIPT screen was greater than 1 in 2.
Confined placental mosaicism is where the abnormal cells with the trisomy are just confined to the placenta- the trisomy occurs after the cells divide to form fetus and placenta so there is sometimes a theoretical possibility that the fetus is still unaffected. This is incredibly rare, but of course you must wait for the CVS/amnio to get all the definite information you need to move forward.

Please do PM me if you want to, I know how you feel and wish you lots of luck and hope you have plenty of good support and guidance around you.

I can't give you positive stories about tests. I can say that I know several adults with Downs and their parents. Lovely, happy, kind and valued people. It is difficult, I know.

Op I am really sorry to hear you are going through this anxious time.

I wanted to mention the charity ARC (antenatal results and choices) which I used when a close relative went through this. They didn’t want to call but asked me to. The helpline was very good and they support through the testing process and next steps.

I was 38 and we were told we had a 1:2 chance of Down's Syndrome and also the nasal bone was developed. I had a CVS and convinced ourselves of the worst but it all came back clear. The waiting is horrible. Thinking of you

*Nasal bone was not developed

Hi op

I really empathise. I had exactly this. Everything looked ok on the scan but it was my bloods. I was 1:2 abs remember the agonising wait. All wax totally fine and he is now 10. I called them a few times to get the results as they have a list of people to work through and I couldn't just wait around.
Good luck

Hi @WaitingWorried, my chances were 1:1900, but we found out postnatally we were that one!

Having a baby with Down’s syndrome is a slightly different journey but it’s an amazing one. My superstar with an extra chromosome is now 5 and having a whale of a time in mainstream school. For more on our story - I’m Cara’s mum - (and lots of others) take a look at the DownRight Amazing Facebook page: m.facebook.com/DownRightAmazing

There is also a group for expectant mums called PADS Great Expectations and more stories and experiences from a variety of families at www.positiveaboutdownsyndrome.co.uk (which I think you’ve already been signposted to). Future of Downs is another great FB group and I think they also have a subgroup for expectant parents.

The Downs Syndrome Association website also has great resources for new and expectant parents at www.downs-syndrome.org.uk/for-new-parents/being-pregnant/

Good luck and take care x

Hi op, how are you today? I’m guessing you are still waiting for your results and hope you are managing to eat and get at least a bit of sleep.

Sending a hand hold and if Down’s is confirmed there will be support on here for whatever decision you decide to make

@Bright81
Hello do you remember where you saw Posts
Confined placental mosaicism? I received confusing CVS results today that have led doctors to look into this for me. Thanks