Get updates on how your baby develops, your body changes, and what you can expect during each week of your pregnancy by signing up to the Mumsnet Pregnancy Newsletters.
awaiting cvs test results for chromosomal abnormalities(47 Posts)
Hi, please tell me if I have posted in the wrong place as I’m very new to this..
Myself and my other half are awaiting our CVS (Chorionic Villus Sampling) results as we had a reading of 1:5 risk of Downs Syndrome and 1:77 of Edwards or Pataus. We were really shocked by this.
The NT reading was 3.8 only 0.3 over the higher end of Normal, the HCG was low and the PAPP-A was Normal. So only two out of the three tests were abnormal.
Has anyone had experience with this cause I was thinking it would al need to be slightly wrong of the risk was higher..
Thank you in advance!
Sorry to read that you are facing the CVS limbo, it’s a horrible time.
The combined screening isn’t worth the paper it is written on, I take it you had the NHS screening?
Now, the closer the NT is to normal range, is a more reassuring sign.
Usually in a Down’s syndrome pregnancy the HCG is normally higher than average and the PAPP-A is low.
I have only found one other person with low HCG and a low PAPP-A that had a Down’s syndrome pregnancy after many hours of scouring the net. I don’t know if any ladies on here have similarly had an issue with normal PAPP-A and low HCG.
Realistically there’s an 80% chance that your baby doesn’t have T21. Many women with a risk such as yours go on to have normal pregnancies, even with NT measurements in the 5-7mm region.
I hope that your results go well, a massive hug and hand hold to you. it’s a really stressful time.
Sorry! Forgot to add, sometimes age increases the risk ratio with the blood results.
Thank you so much for replying
Yes we had the NHS screening.
We should find out this week well hopefully by Wednesday as it has been two weeks since I had the CVS! I’m only 28 so that’s why the result came as more of a shock as you always think it’s not going to happen to you.. and I already have one healthy 3 year old (which I know doesn’t mean anything)
I have looked so much on the internet looking for people with low HCG and Normal Papp-a and can’t find anyone which is why I was at such a loose end!
Hopefully the next few days we will find out..
I can’t amswer the question but wanted to just offer a holding hand. I’m awaiting my NIPT results this week and the limbo is awful.
The NHS combined results are notoriously panic inducing and wrong (reason I paid for private NIPT) so try to be positive whilst waiting for the cvs result.
You’re welcome, sorry I can’t be much more help.
Bless you, it’s really a shock isn’t it. I had abnormal screening results in October and I am 27. Sadly didn’t end well but my results were totally different to yours (massive NT, extremely low Papp-a, some soft markers on baby).
As Karigan has rightfully said.. if there’s ever a next time, I won’t be having the combined screening and will have the NIPT instead. Even my NHS consultant said the NHS screening causes more scaremongering than a little, and give a lot of ‘false positive’ indicators for trisomy pregnancies, when a lot of the time that’s not the case at all.
Karigan, hope your results are good news!
Blimey, 2 weeks is a long wait, are you having a full karyotype done as well - if you don’t mind me asking? My preliminary results for all 3 major chromosome abnormalities was back within 48hrs, but my hospital had a lab on site (Nottingham city hospital). Have they had to send the tissue to a different site to be tested?
It’s so nice to talk to people that are in the same boat as me or have been cause you just feel so lost.
I’m having the full one done as they didn’t take enough to be able to do the quick test!
If there is a next time I will 100% be having the blood test earlier than my 12 week scan too..
I’m at the Birmingham Women’s hospital so they do it all on site which I was pleased with as I was able to get seen quite quickly.
I had an in depth scan in Fatal medicine and they couldn’t see anything else physically wrong with baby apart from they couldn’t see the 4 chambers of the heart but it’s the size of a raisin so they said that could be why..
I hope your results Karigan are back soon and you get the results you wants
Sending love xxx
I hope yours are what you want too. I deliberately had my test at ten weeks which is the earliest you can only to have to go back again as there weren’t enough chromosomes in the blood 🙄. Should have found out over a week ago. I hate this limbo.
I’ve just rang the hospital and I won’t know anything till the end of the week as they are having to grow the samples!
I had allow Papp-a and high hcg, 1.6 NT and 38 years old. Gave me a 1:19 downs risk. We went through cvs and the wait was horrendous - I'm so sorry you're going through that now.
End result was very positive - nothing wrong with the baby! She's now 5 months old and yelling at me to put my phone down
She did pop out 5 weeks early and I wonder if the low Papp-a has anything to do with that.
Keep us updated
Will keep you updated, just fed up of waiting.. but keep every crossed for everyone else too 🤞🏻🤞🏻🤞🏻
How are you doing op?
I’m still waiting. It feels like I have Schrodinger's baby inside me both fine and not fine at the same time 😕
Nope haven’t heard anything yet! I’ve phoned them every day to see if they have anything just for my own sanity.
The waiting is awful xx
Has anyone heard their results yet?
I’ve been waiting 16 days and still nothing
I’ve got my NIPT back. All clear thank heavens so started telling people.
Still crossing fingers for you
Wow! Congratulations! Karigan195 that’s amazing news... enjoy x
Sorry you are still waiting for the CVS results- it must be ridiculously stressful.
If they do come back as positive for Down’s syndrome, don’t panic, but do get informed. There are some excellent resources for expectant and new parents on the Down’s syndrome Association website, so it’s definitely worth having a browse through them. The Postitive About Down’s Syndrome website is really great for stories and experiences of real parents, as is the Don’t Be Sorry Blog, about a 6 year old called Oscar and his family. Also, please look at downrightamazing.co.uk and its related Facebook group, which features stories of some of the kids from our local support group.
I was given a postnatal diagnosis of my daughter’s Down Syndrome (our chance had been 1:1900!). The consultant reeled out a list of all the potential medical problems just hours after she was born. Do you know what? She’s completely healthy- no heart, bowel or feeding problems (although breastfeeding was tricky at first due to her low muscle tone). She’s now 3 and a half, a cheeky little girl who can walk and is saying more and more each day! Things are a bit different to what we expected, but I can’t imagine life without her!
Do you mind me asking what test gave those odds for you Curlie?
The standard combined test: I think most NIPTs give either high/low chance or really high/low odds. When I had the Iona test with Cara’s little sister it came back as 1 in 1,000,000 for Down’s and Edwards and 1 in 650,000 for Patau’s.
Thank you for messaging and being concerned
I’m not too bad thank you.. Still waiting which is driving me insane now.
I ended up ringing them on Thursday as it was over two weeks then but they said cause my sample was so small it is taking longer to come back. I’ve got everything crosssd it will be today.. but not getting my hopes up too much..
Can’t be much longer.. Then it will all be over..
Myself and and my boyfriend haven’t spoken about it all weekend just to try and have a rest from it being in our heads!
Soo.. I’ve just found out that my CVS sample has failed and I’m going for an amino tomorrow!! So frustrated!!
Oh dear. I really hope you get those results back quickly. The delays are all very unfair!
Oh CSL... sorry to hear the CVS sample wasn’t enough ☹️, as if the waiting wasn’t stressful enough!
Wishing you well for the amnio tomorrow, I hope you don’t have such a long wait for those results this time. A big hug sent your way xx
Join the discussion
Registering is free, quick, and means you can join in the discussion, watch threads, get discounts, win prizes and lots more.Get started »
Please login first.