High risk for Down syndrome

[TheSJCSupplies]

Hello, I’m just after some information and hopefully positive stories. I’m 29, third baby and have just received a phone call today stating the baby has a 1:79 chance of having Down’s syndrome. The 12 week scan went really well, they were happy. Nt was 2.5mm which they told me was ok. I have had further bloods today but I’m just in a sheer panic and worry. Please can someone provide some info. Many thanks,

Hi, I had pretty much the same chance as you with my dc3 (1:73 I think I had). Like you the scan went well and the NT was fine. My Papp a was low and high HCG which caused the result. Did they let you know what your results were? For me it was just my hormones and the further tests came back low risk. (She is now 4 months old and all fine!). I totally get the stress and worry though, did they give an idea of how long the results will be?

Hi, I was tested at age 40 & 41 can't remember the exact chance but as I had no high risk criteria such as poor medical history , the higher probability was due to my age and having 1st & 2nd baby in my forties. Both my DC were perfectly healthy and now 12 & 11 years old. Best wishes to you.

I would really question the use of high risk and 1:79.. if that were odds on a horse Im not sure I would back it as I'm most likely going to loose my money.

Betting aside, pregnancy is insane.... It really does send you on an emotional rollercoaster. You spend the first 12 weeks hiding the best news following by the next 28 weeks worrying about everything between screening tests, movements, bloods, falls, infections, stretch marks, pain, sleep deprivation, itchiness.

Sit back, relax and just let nature take its course! There is absolutely no point in worrying until someone tells you they found something. Right now they've just said they think there might be something but they are only 1.265% it might be something.

Good luck with the screening!

Same for me re the hormones plus my age (38). My risk was 1:19!

I opted for NIPT and a CVS which showed no issues and I can confirm my 4 year old definitely doesn't have downs.

Thank you for the quick responses they are so positive it makes me feel better, they haven’t explained any of my results I just have the paperwork, hcg levels are (from what I can gather) 60.8
PAPP-A 1,086.9
NT 2.5.
I don’t understand what they mean, or if they are really bad.

I was picked up as same odds as you at 12 week scan but for Edwards and Trisomy ( I've probably spelt both those wrong ). They were not positive with me and I honestly thought the worst. I was given a CVS and the results came back fine!

Are they offering you a NIPT test? That sounds like your next course of action to me, which in most cases prove very reassuring.

I have had further bloods yesterday for a NIPT test. They just said wait can be up to two weeks. Just a long time to try and put it to the back of my mind. I’m trying to be as positive as I can be.

@ljc111985 so glad yours came back all ok

Hey @TheSJCSupplies
Did you get your results? I’ve just had that phone call today - exact same as you 1:79 and am freaking out! I’ve got my NIPT booked for Monday and am dreading the up to two week wait for results! X

@Sarahlou2022
Firstly so sorry you had to have this phone call today, it was never a phone call I expected to get. But I had my nipt test a few weeks ago and got the results around 5 days later. I asked them to call me as soon as the results came in as I going crazy not knowing.

My results came back absolutely fine. I was low risk from the nipt test. I cried again on the phone to them.

The one thing that I kept thinking about when waiting for the results was when they tested the fluid on the back of the neck everything looked good and I read that if the fluid is in the normal range then it’s very unlikely that the baby has Down syndrome as the fluid and bloods would need to be both out of range. Did they say what your fluid range was?

I wish you all the best and I hope everything is all ok for you. The wait is the worst bit but knowing either way will make you feel better. Please come back and let me know how you get on.

x

@TheSJCSupplies oh that’s amazing! So happy for you, enjoy the rest of your pregnancy <3

Yes, it was 2.8mm, so within normal range. My first two children were normal and healthy pregnancies, I’m 35 which I think is probably one factor that’s giving me a higher risk. It’s just a waiting game isn’t it, but that’s really positive to read re the fluid being a normal level that it’s unlikely to come back as a high chance. Pregnancy is such an emotional rollercoaster - probably to prepare us for all the emotions and worries the little rascals give us once they’re here! X

I paid privately for the harmony blood test and got my reassurance. It was about £400 4 years ago. I put it on a credit card as I needed to know for sure

@sweetnoodle that’s what I’m booked in to have bloods for on Monday x

Wishing you the best for that x
It's totally different to the amniocentesis - they will take some blood, send it off to a lab and then they will literally count the dna strands to confirm (99.9%) for the three main chromosomal syndromes; downs, edwards and patau. They will also be able to tell you the sex of the baby if you wish to know x
Got everything crossed for you x

@sweetnoodle thank you so much 🤍 x

@Sarahlou2022

This has happened to a number of people that are close to me and all feared the worse and had all kinds of scenarios in our heads. The NIPT test results came back absolutely fine. They did take around 8- 10 working days x

I really wish the NHS would offer routine NIPT tests in the first instance, for women who want it. It would prevent so much stress and heartache.

It's so true and it's got to be cheaper than carrying out an amniocentesis

@PMAmostofthetime keep everything crossed for me 🤞🏼🙏🏼 x

@ChagSameachDoreen they should definitely be offering NIPT as standard, and even more so for over 35s, as they already categorise you as high risk, hence the likelihood of a screening saying you’re high risk! It should just be done at 10 weeks. Apparently the most effective result on the NT is bloods at 9-10 weeks and then the NT from 11 - 13+6 rather than taking bloods at the scan. It would also speed the results up as you could be told a result on the day of the scan, meaning you can act faster to have further testing such as NIPT, and if required the CVS before 13 weeks.

I’ve read so many posts where women are given these high risk results but then everything is fine - if they offered NIPT at 10 weeks to everyone it would save a lot of stress and worrying for a lot of women… maybe we need to start a petition to help relieve the stress for future mums x

Me too. I don’t see the point in the 1 out of X results anyway as anybody could be that 1!