Looking for success stories…

[LM255]

After falling pregnant 3 times within 6 months (2 early miscarriages) this year - we were very excited to get to to our 12 week scan this month. Everything during the scan was fine and we were measuring ahead - we naively thought this meant things would be OK.

We opted for the combined screening and to our surprise it came back with 1:85 risk of Down’s syndrome. I have extremely bad health anxiety, so have taken this news very badly.

The results of our screening are as follows:

NT 1.1
Age 33
HCG 3.8
Papp A 0.51

We elected to have the CVS as we wanted certainty rather than further screening (and the NHS wouldn’t do diagnostics if the NIPT came back low risk). We went for the CVS yesterday, but the consultant said he would rather not do it due to placenta location and recommended having the amino in 2 weeks time or going to Kings college (where our consultant trained) to see if they would do the CVS - we have opted not to do this and wait for the amino. As you can imagine, the wait is awful and I am not coping well. We know the risks of the procedures but it seems to best for us rather than another screening.

During both the scans we have had (sonographer and consultant), there have been no soft markers - nasal bone seen, low NT, growth ahead, heart function and blood flow looked normal, the consultant also looked at the location of some arteries near the heart (I am not sure what but he said in cases of Down’s syndrome they can be a certain way and mine were not), Normal tricuspid flow.

The consultant said the combined screening is probably raised mainly due to the HCG. I have been relatively nauseous and had sickness during the pregnancy - but this has since eased off in second trimester. I also fell pregnant before having a period after my last miscarriage.

I am also a type 1 diabetic, so this is likely the cause of the low Papp A as apparently this can be linked!

Anyway I am looking for some success stories of people whose combined screening has similar odds but the amino was negative.

Thanks in advance!

I had a 1/24 chance, I took the nipt test I and currently have a healthy 15 month old. It was probably that hardest week of my life waiting for those results.

but what I will say is, if I ever have another baby I will NEVER do the combined testing again…i will pay for a private nipt test. The odds are in your favour! My results were very similar to yours apart from NT was 3.2

wishing you the best of luck 🤞

I had a 1 in 25 risk and now have a strappy 18 year old at uni. It's a scary time because of the uncertainty- our scans showed no soft markers and everything was fine. I opted not to have the amino because I wouldn't have terminated the pregnancy anyway.
I hope everything is OK for you.

Thank you! I didn’t even know about NIPT testing as this is my first pregnancy - but I agree I would do the NIPT privately. It seems a lot of people have similar issues with the combined screening. I am currently in a constant state of panic and stress - which I know isn’t healthy at all. Next Thursday seems like a very long way away before the amino!

I’m so pleased everything worked out well for you!

Thank you for some reassurance. The two detailed scans we have showed no soft markers and as I said the consultant was looking at the location of some veins (I can’t remember what he said exactly) so I would like to think it’s all been quite detailed but the pure anxiety I am having is awful!

I’m so pleased things worked out for you.

@LM255 I had a crazy situation where a mistake put me at high-risk for T21. Then later I was considered high-risk for T13 (wouldn't have been discovered if not for the first error).

Anyway everything thing was fine, and my odds were worse. Looking at your numbers, they look pretty normal. You're also measuring ahead which isn't a typical sign of a problem (was the same with me in the pregnancy I mentioned).

I think you'll be fine.

Oh that’s crazy how a mistake put you as high risk! if I would have known about NIPT testing l, I would have that opted for that privately before the NHS combined screening for sure!

Thank you for your message - we have the amino next Thursday and counting down the days is super hard as the anxiety is so high. I’m m glad it’s the weekend and we have nice plans to make the time go quicker!

I will be sure to post my results whether good or bad 🙂

How did it go? Hope all's well

Hi OP,
I've recently found my baby has similar odds to yours (1 in 89) of Down's Syndrome. I'm thinking of you as your receive your results.

From my reading, I think an amniocentesis test is more accurate than the CVS as sometimes the DNA of the placenta can be different to that of the baby. I don't think that's well explained to parents so it's just as well your consultant recommended the amino in the end.

I have opted for the NHS NIPT myself as I don't feel I need the absolute certainty but, even though the risk is actually still small, it's thrown me far more than I anticipated so I completely understand why you might want to skip the weird limbo state as much as possible.

Hello, thanks for checking in. Still not results - I thought they were due back today but apparently they have not been received. As you can imagine I am now thinking the worse and the reason they haven’t come back is because there is a problem.

it’s a really really tough time :(

You have my sympathies. I've been there. I can assure you that the wait doesn't mean anything negative, strangely they're more proactive with negative results.

Fingers crossed you get results later this week. It's horrible hanging in limbo.

We just had a call from the consultant and they said there is maternal cell contamination in the sample. I am now petrified. They cannot give me the quick results and instead I now need to wait for the full results - which is another 2 weeks.

I am assuming it has come up like this because there is a problem - I am in absolute pieces and don’t know what to do 😥

Wow, how distressing!

If I'm honest I think they are being genuine about the maternal contamination. If there was something they would want you to know about it ASAP as there is view that it's easier for those who may wish to terminate to do so earlier on in the pregnancy, rather than later.

I know that's of little comfort, 2 weeks is a painful amount of time. I also had to wait 2.5 weeks in first pregnancy, in that my partner and I were depressed and googling every single detail.

I still think it's likely you'll be fine. Particularly as no abnormalities were identified in the scan. You could always go for a private reassurance scan, if the technician doesn't flag anything, that would support my view.

It’s just been a very long process… I think from the first screening from NHS to when we should get final results is 5 weeks…. I would never have the combined screening again and just pay for a private NIPT.

the consultant has been fantastic and said he has seen this 2 times before in 3 years at this hospital. One had a negative T21 result and one had a positive T21 result - but the latter had multiple soft markers.

the consultant has also offered to do a reassurance scan this Thursday to check for soft markers again. We have also booked for a private NIPT in the evening (the NHS won’t do one now we have done the amnio). Those results should be back quicker than the amnio results.

I am considering getting signed off work as the stress is too much but also think work is a good distraction! I just can’t help but think with every hurdle it means it will come back positive - not sure how we keep being on the wrong side of the stats!

@LM255 I understand, and I think so what's best for you. For me work was a distraction when I couldn't think of anything else. But you should definitely take time out the stress is too overwhelming.

It sounds like what your consultant said is consistent with my view in that the absence of soft markers is gives some reassurance. Take it from someone who was reading research papers on this.

My own thread is somewhere in the archives of this forum. But in short, an administrative error indicated my baby had a 1:2 chance of T21 (downs). Which sounded pretty conclusive. So we went for a CVS to confirm. Right after they took the sample they discovered it was done in error, and the risk was actually 1:5000.

Clinic was very very apologetic, I was livid I had a CVS for no reason, but relieved. A couple days later, minutes after we had arranged for family to come round so we could share the news, clinic called and said the CVS sample came back with T13 (Patau). That was a shocker, considering CVS is supposed to be 99% accurate. We were told we'd have to wait 2 weeks for an amnio, then a further few days for results. Most of which I spent depressed researching, and watching videos. I learned of placental mosaicism which seemed rare but consistent with my situation.

My child was also measuring a week ahead and had no soft markers like yours. Long story short she's 3.5yrs now and completely normal, if not advanced. I know it seems hopeless atm, but there's a good chance things will be absolutely fine.

I think I may have come across your thread whilst searching!

I can’t imagine how stressed you were with the constant changing results. You must have been so worried about things. I hate to think what my blood pressure is with this stress!

I just don’t understand why we have maternal cell contamination… when we saw the sample they said it looked clear (and we also thought it was clear) but apparently not. It’s somewhat concerning that 2 weeks will be 23 December … so right on top of Christmas and as we are expecting the worse this is far from ideal!

in hindsight wish we had done a private NIPT 2 weeks ago as at least we would have some answers now rather than nothing!

I think on Thursday I will ask the consultant to check everything again given it’s going to be a long wait until we have results… he also said he will speak to the lab on Monday to get an ETA on the results … but looks like another 2 weeks of barely sleeping!

Just to update this thread - we had another scan with our consultant today. This was one week post amniocentesis. Everything looked normal, no soft markers found again. We are now waiting on the full amnio results (as we couldn’t get the quick ones).

To update this thread - we got the amnio results through today and everything came back normal - no chromosomal issues. The sense of relief is like nothing I have experienced before.

I hope anyone who comes across this post in future finds my story reassuring!

Congratulations @LM255you can now enjoy your pregnancy! X

Thank you! We also got our private NIPT results back today and they were clear too (as expected post amnio). Hopefully we can start telling people our news over the Christmas break now!

Exciting @LM255 I have been following your story and just came back to see how it worked out for you. So pleased all is good! Have a wonderful Christmas and enjoy sharing the great news with your family! X

Congratulations! 😊

Hello! I'm also worried about my results. For DS, mine came back at 1/520. Considered low risk, but seems higher risk compared to others. For reference I am 30 years old, NT was 2.3m, PAPPA-A was 0.81, but HCG isn't on my report so unsure of that. I'm currently 17 weeks and had a private scan at 16w where everything looked normal, nothing was flagged as abnormal. She took measurements of the head, confirmed gender, checked blood flow and fluid and said heart looked healthy. Not sure if I am worrying for no reason and just comparing myself to others? NIPT is very expensive so not something I'm considering - for now just waiting for my 20w scan. I'm glad everything turned out well for you, OP. Praying my baby girl is healthy!