Low risk NHS test, high risk NIPT

[fingerscrossedmumma]

I don’t even know how to process this information. We’ve been on a long fertility journey of multiple first trimester losses so when we finally hit 12 weeks and got the all clear from the NHS (my screening risk came back as 1 in 1300, my trust classes anything under 1 in 150 as low risk) I thought we were in the clear.

My anxiety got the better of me though (‘what if I’m the 1 in 1300) so I paid for a private NIPT test and got the phone call yesterday that I tested high risk for T21. I haven’t been able to eat or sleep since then. My husband is distraught and I am terrified.

I called my midwife who was so unhelpful and said that as my NHS screening was low risk there is nothing she can do from a private result. I ended up calling the hospital screening team directly who referred me to fetal medicine who I am seeing today.

What are our chances here? We would go down the TFMR route if it’s positive but it’s already looking so negative. I just don’t know how to go on. I’m taking my prenatals etc but I feel so stupid doing so.

How do I go on and survive? I am broken.

I’m so sorry to read this. I don’t have any experience but didn’t want to read and run
did they say what the chance was?! I’ve seen similar posts on here and it’s always worth thinking there is still a high chance your baby is healthy. Glad you’re being seen by fetal medicine. Hoping someone else will have some experience and be of more help x

Hopefully fetal medicine will send you for a CVS. We had a high risk combined screening then high risk NIPT. Our CVS was positive. We TFMR so we are on the same page with you. Sending lots of love and hope.

I have been through TFMR for T21 after an NIPT result (we didn’t do the NHS screening), then a positive CVS. I know exactly how you feel and it’s awful. The NIPT is generally very accurate for T21 (and more so than the NHS combined screening) but I have seen situations when a CVS or amniocentesis has come back to say the baby is healthy (and the placenta had the cells with the extra chromosomes).

Please message me if you would like to chat or have any questions. I’d recommend giving ARC a call too.

Thank you - I didn't get a percentage risk on my NIPT report. Just "high risk" which is entirely unhelpful. I realise now why there is so much talk about how unhelpful private clinics offering NIPT can be... we went with a cheaper option and there's just no follow up care at all

We went in yesterday and they were ready to do a CVS for me! But I opted to wait for an amnio as we had no indications on the scans, and it would then tell me for sure it's not (in the very very rare instance) confined to the placenta. I hope I made the right choice. The wait is going to be horrible

Thank you for replying - I am so sorry to ready this. Did you go down medical or surgical route? I've just been told that for surgical I would have to go to the local abortion clinic which seems like an absolute joke as this is very much a wanted pregnancy. I just worry the wait between results and getting an appointment would be really long

We did medical management at 16 weeks. It was hard but they give you all the pain killers and was over in 4-5 hours. I felt very in control tbh and I think if I had to do it again I’d choose medical again. I’ve heard positive and negative stories from both but I had no choice because the surgery was a 3 week wait so I’d of been nineteen weeks and the T21 made me severely sick. I was bed bound with hCG levels six times higher than the average. How was your sickness out of interest?

I had medical management and gave birth in hospital at 16 weeks. For me, I wanted to hold my son and have a burial for him but it’s very much a personal decision and there’s no right or wrong way to feel.

I was really worried the staff in the hospital would judge me badly for our decision but they were outstanding - very compassionate, kind and treated our son with the upmost respect.

It’s a very heartbreaking thing to go through all round. Our TFMR came after 3 rounds of IVF and 3 previous miscarriages.

@CSSL7 I didn't know T21 makes you more sick? That sounds awful to have to go through! I've had mild nausea throughout the first trimester but nothing at the moment (the drop in symptoms was terrifying for me).
I think I may pre-emptively book in with the BPAS clinic just so I don't have to wait too long for a surgery if that's the route I go down

I don’t know if anyone else was the same but my doctors told me my severe sickness was down to the T21. The triggers for the combined screening test are high hCG and low Papp-a that’s how mine was picked up. My hCG was 6.31 and a normal pregnancy would be around one. I was convinced I had Hyperemesis so was worried it would happen next pregnancy but the doctors said it isn’t HG it’s from the Down syndrome. Maybe my Down syndrome was severe??? I honestly will never know but would love to know if others had bad sickness.

im currently 9 weeks and had zero sickness or nausea so it gives me hope this one may be ok

What happened if the end for you OP? X

@Nc546888 I'm in the waiting room waiting for my amniocentesis now :( so scared

You’re being so brave, you will get through this :) x

how was your results OP. Thinking of you! @fingerscrossedmumma

@CSSL7 thank you! Still waiting and expecting the call today - have had a panic attack already and I am really struggling! Just wish they did all the results in the morning!

Wow we’re in the same boat. I’m waiting for them to call with my NIPT results and I’ve already thrown up and can’t focus on anything. I’m just staring at my phone 😭 I actually just wish she’d said ‘it takes six days’ then rang me one day earlier if they were in.

my last NIPT didn’t call until late like 5 or 6 pm. I don’t know whether to text and chase her but just feel like if she had the results she’d call. I am beside myself

@CSSL7 yeah because my nhs test was low risk, I actually didnt worry about the NIPT call and forgot what it was when they phoned! That made the shock so much worse, but at the same time this wait is really testing my mental health!

Any updates for either of you x

Unfortunately the amnio confirmed the diagnosis and I'll be going through with a TFMR.

Are you going through the same?

Oh I’m so sorry :( we TFMR in May so here if you have questions.

I text my midwife at 4:30 and it didn’t even deliver so she obv has the day off or gone home without calling - annoyed that she told me she’d called me today because I’ve been sick with anxiety all day and it was needless. I’ve text her now so sure she’ll receive it when she turns her phone on in morning so expecting some sort of update tomorrow.

Oh mumma I am so so sorry. There’s nothing I can say which can help you feel better I worry.

I really hope it’s not insensitive to say but there’s a very very very small silver lining with the fact that we now have medical tests that give you info and choices that in the past people wouldn’t have had, who would have had their whole pregnancy not knowing and then surprise news on delivery date and having to cope with that at that stage instead. I think that would be worse for me personally.

I can’t imagine a TFMR will be without its heavy weight - it is what I will be doing if I receive certain results (haven’t had them yet). My husband and I have talked and we just don’t feel we could cope with a child with life limiting diseases or downs.

I am sending you hugs and prayers so much

@Nc546888 absolutely - although I am devastated I know I did everything I could to make sure there was no doubt. I am grateful I had the foresight and means to take an NIPT as if I didn't then I would have happily gone about everything feeling low risk based on the NHS tests. A still birth or an at birth diagnosis would have shattered us - so this is going to be a painful thing to go through, but it is relatively the least painful for the baby.

I hope your tests are ok too - did you have an amnio?

Just to answer the question on increased sickness, I had a lot of nausea with my first pregnancy, my second was a down syndrome pregnancy and I had almost no nausea at all. My third pregnancy which didn't survive made me feel very sick. Every pregnancy is different I guess.

So sorry you've had such an emotional journey OP. Xx

We got low risk NIPT this morning. So relieved after such a horrific year. Good luck to everyone in the future xxx

@fingerscrossedmumma I am so so sorry you are going through this. We TFMR a much loved and wanted little boy at 14 weeks 6 weeks ago, due to multiple abnormalities including trisomy 21.

I chose a medical termination as I wanted to give birth to him and hold him, but it’s very much a personal choice. The staff were just utterly outstanding and we were treated with the utmost respect and compassion throughout.

Feel free to PM if you have any questions. Sending you love and strength xx