1:5 downs risk. Waiting for Nifty test results. frantic!

[clairemiss79]

Hi. I had the quadruple blood test 2 weeks ago and got the results 10 days ago. They came back positive with a 1in 5 risk of Downs. I was really shocked. This is my 4th pregnancy and the first time I've opted for any screening.

I decided an amnio wasnt for me and opted for the new Nifty test which costs £295. The test includes a detailed scan. By the time of the scan I was 16 weeks and 1 day. The scan came back totally normal with a nasal bone, normal nuchal fold, long arms and legs etc. The sonographer said that this is a good sign but not a definite indicator our baby doesnt have downs.

The results of the blood test for the nifty screening should be back on thurs. I am beside myself with worry. Normal scan but high risk based on bloods. Has anyone else been in this situation? Do you think a normal scan reduces my risk?

I'd love to hear your thoughts and experiences on this.

[Teaandtoast1]

I am literally in the exact same situation. I could have wrote your thread. I had 1:5 with a only slightly raised NT result from he hospital so went for NIFTY, The first blood draw didn't take so I had to wait another terrible 12 days for the results. I'm not going to lie it's been horrible. I got the sad results last week that I'm positive for downs. After my fear of the amnio I'm still having that on Monday as I'm still a bit in shock and as we will terminate if we get a positive result I need to be sure. There is a teeny tiny false positive with NIFTY, a bit like winning the lottery but I just need to be sure as I still can't quite believe it.

I have everything crossed for you xx

[clairemiss79]

Thankyou for your reply and I'm so sorry to hear your sad news. I don't know how you coped with doing this 2 week wait twice! It's awful. If my test comes back positive I'll also have an amnio and then I'm not decided what to do.Ill be about 19 weeks by then. Did your scan show any markers? How long did your results take?

Have absolutely everything crossed for you on Monday. These tests seem to be so full of false positives etc amnio is the only way.

[Teaandtoast1]

My 12 week scan didn't show any markers no, the nasal bone was present etc.

The wait has been terrible. I'm off work on the sick now as I couldn't take anymore. People try to be nice and ask you how your 12 week scan went so it's hard to pretend to be happy. I'm a mental health nurse so had to move wards to ensure my safety so literally everyone knows I'm pregnant.

My first results took 18 working days, remember to work it out in working days and not calendar days. The second is faster and took 11 working days. I was also unlucky that it was right over all these bank holidays so it took even longer!

In hindsight I'll go for amnio straight away. As much as I'm terrified these past 6 weeks have been hell. I'm 19 weeks this week and really didn't want to get it's far.

I know you'll be worried until you hear those results so just do what ever you need to do to make it as stress free as possible xxx

[WipsGlitter]

I've no real advice to offer. I have a child with Down's syndrome - diagnosed at birth. If you are sure you'd terminate then I'd suggest people go straight for the amino - all these other tests, soft markers etc just muddy the waters as they are not definitive.

[Teaandtoast1]

I have to agree with you wipsGlitter. If I'd of got the all clear from NIFTY I'd be raving about it. Now I havnt I wish I'd of done amnio. Saying that god forbid we miscarried due the amnio I'd be wishing we did NIFTY.

I suppose there is no right answer.

[clairemiss79]

Teaandtoast I just read your other thread and realise your Nifty gave you a 1:20. I didn't realise that could happen. The doc told me it would be definite pos or neg. It sounds so hopeful for your amnio on Monday though. 19 out of 20 chance it'll be ok as I understand. I hope it all goes well on Mon. I'll be thinking about you x

[Teaandtoast1]

I rang ARC about the 1:20 result and they had never heard of it. She did some investigating and I turns out the women who have me my results just didn't know what she was talking about. Apparently 1:20 from NIFTY doesn't actually mean that. That's just the way they give their positive results. It confused me that much and with all the waiting I decided I need an amnio to be sure. Although in my head we've already lost the baby and I down feel pregnant anymore. I guess that's my brains way of coping.

I'll report back on here as I know a lot of women like me like to hear the whole story from others as it really does help.

Have you any idea what you will do when you get your results? Xx

[clairemiss79]

That sounds so confusing. I still have fingers crossed for you. I expect my results over the phone on thurs. I keep telling myself that 1 in 5 means 1 in 5 and the clinic I went to did a diagnostic scan that was clear but that's only 50/50 apparently.

As the baby seemed pretty ok healthwise on the scan if it does have downs I'll continue with the pregnancy but to be honest I can't really be sure of that situation until I'm in it.

The doctor at the clinic was reassuring and said the nhs quadruple test is unreliable. I suppose I'm clinging to any hope.

I guess we'll both know our answers by thurs xx

[Teaandtoast1]

That's the best way to think about it, you still have technically 4 chances out of 5 that's everything's ok and there's no harm in thinking of that.

Yes I'm hoping by Thursday we will know, it's the not knowing that's been the most stressful. We have decided to terminate if we get bad news, it's a very personal decision though and only you will know whats right for you.

Good luck xx

[1hope82]

I'm really anxious. I had my nuchal scan with NHS and I got a 1:55 risk factor (I'm 31, nuchal 2.7 but bloods were bad) The few days after I couldn't eat or sleep and just kept crying. I didn't really understand all the stats and information I'd been given. Yesterday decided to go to the Fetal Medicine Centre where they re-did the nuchal scan and bloods (and looked at other markers on the scan). They gave me a new risk factor of 1:1213. They seemed confident but I'm still so scared. (1:1213 still seems high after my first DD's risk factor was 1:9800) Also I'm dubious how the NHS and the centre can give me such different risk factors, and whether I can trust the FMC? I decided to go for the Harmony test, (think this must be the same as NIFTY) but waiting these next 2 weeks is going to be horrific and I'm terrified at what the results will say :-( xx

[1hope82]

(Should have said the FMC recalculated the risk factor because of the physical markers they could see on the scan. They seemed to put less weight on the bloods)

[clairemiss79]

1hope 82 I think your risk seems very low. I've read a lot on the internet during my 2 week wait and downs is rarely diagnosed on bloods alone. If the FMC did a scan looking specifically for the makers and they didn't find any then that definitely reduces your risk.
I was beside myself having a risk of 1 in 5 but j got the call from nifty today and I know for sure my baby is ok. Try not to worry. The harmony will work out fine. I was absolutely terrified of the phone call. I would trust the FMC over the NHS any day. X

[gunwalloe]

Claire that's great news!

1hope I wanted to echo what Claire had said about the FMC I had my nuchal and harmony test there and although the harmony test failed ( not enough baby DNA ) I was so relaxed and happy with the risk factor they gave me. I chose not to have the NHS nuchal as I feared it would come back high just on my age as they don't use all the markers in there calculation.

[1hope82]

clairemiss79 congratulations on your good news!! The waiting is agony, I can't stop panicking about it and being scared of what harmony will say. Hard to focus on anything else, it feels as though life has paused& at the moment as though I'm not pregnant. Do they just tell you results on the phone? Also gunwalloe do you know what statistic from the nuchal screening the FMC counts as being 'high risk' or 'low risk'? Is it the same as the nhs at 1:150? x

[Sheen4]

Hi everyone a very stressed out and sleep deprived mama to be here looking for some other peoples experiences to hopefully help get my head around the results and maybe hold my hand a little.

I have just received the results of the first screening tests along with the NT measurements and they are a very upsetting 1 in 5 chance that baby has Down Syndrome however from what I understand the factors used to get to this result could also be symptoms of intrauterine growth reduction or the onset of pre eclampsia. The NT measurements were in the normal range but in the upper end of the scale at 3.3mm with the cut off being 3.5mm and I’m testing high for hCG and low for PAPP-A.

(I am in the UK so this is the first screening along with ultra sound done at 12 weeks not the NIPT test or Harmony test it seems to be called in some places)

Have any of you had similar results back?

Did this turn out to be Down Syndrome or some other issue?

What was the outcome?

[CristinaNov182]

@Sheen4 you replied on a thread from 2014…

nipt wasn’t available then

as you are in uk and you got a high risk at the combined test, nhs should have offered you, and if not ask, the free nipt test

do that, if it comes back low risk, nothing to worry about. If it comes back high risk, they will offer cvs or amnio and that will mean a sure diagnostic.

[Sheen4]

@CristinaNov182 sorry very first post haven’t really figured out what I’m doing but thank you very much for taking the time to reply 🥰