Facing TFMR due to high risk nipt results

[Jadey2206]

Hi there..
I’m posting as I’m facing having a TFMR for T21 due to a high risk private nipt test result. I know the chance of the nipt being a false positive for downs is extremely rare so I’m preparing for the worst…

I have to have a dating scan with the nhs on Wednesday followed by a consultant appointment, I am then hoping they can refer my for a cvs soon after to get a diagnostic answer.
They mentioned on the phone I may still have to have the combined screening the nhs offer as they aren’t sure they can offer a cvs based on a private nipt result. This is obviously just going to delay things which I think is a bit cruel and unnecessary given it’s well known a nipt is far more accurate than the combined test… has this happened to anyone else?

Last question is my hospital don’t offer a surgical tfmr only medical, I would really prefer to have a surgical but would have to go through bpas for this, how long am I likely going to have to wait?
I’ll be 12 weeks tomorrow, already have a little bump and an almost 4 year old to look after.
This is a living nightmare 😩
I’m so sorry to those of you who are currently going through or have been through this.
Thanks for reading x

Hello, I'm so sorry to hear you are going through this, it's absolutely awful - living nightmare is exactly how to describe it. I really hope they can offer the CVS quickly after the 12wk scan, and even if they have to get the risk rating first which is likely to be high due to the nipt result?

I had a high risk 12wk scan result last year (>1 in 2) and a CVS, sadly the diagnosis was confirmed and I had a TFMR. I too wanted a surgical not medical, and it was not offered by my NHS trust. I actually booked in a BPAS assessment phone call before the diagnosis was confirmed (when I was waiting for CVS result, as I was so sure it would be positive), and they booked me in for the face to face appointment on that basis for a few days later at the clinic. So you could get the ball rolling pre-emptively once you have the CVS. And if it isn't the most feared outcome (fingers crossed - false positive NIPTs do happen), then you can just cancel the appointment. I think then the wait following the F2F appt was a week or so until the procedure - they didn't want to put a time scale on it so it was hard getting any estimations of how long from them as all depends on the clinic and how busy they are etc.

In the end, I couldn't even stand the wait for the BPAS as wanted it done asap as was 14.5 weeks by that point and a family member paid for me to have the surgical privately (within a day or two). If you have any questions do PM me. I'm so sorry. And really hoping you have a miracle outcome xxx

Thank you for your reply @User69611 and sorry to hear you've also been through this hell.
I did wonder if I could call bpas to get the ball rolling, I think that's probably a good idea.
If you don't mind me asking how much approx was it to have the procedure done privately? As I was thinking this could be an option but I've read somewhere it can be up to £2000! I also don't think I can stand to wait around though and for my bump to keep getting bigger.

Yeah I reckon give them a call to get the ball rolling as it might reduce a wait-time. Also not sure if you have checked out ARC, I have heard wonderful things about their support/advice, my mum spoke to them although I couldn't face it at the time (https://www.arc-uk.org/). I'm afraid the private tfmr was absolutely extortionate - £2650 (in central London). Take care and good luck on Wednesday. xx

I am in exacy the same situation @Jadey2206 . Had 2 private NIPTs (they repeated for free due to a slight issue with dates ) but the high risk result was the same. I too need to have my dating scan on Friday and they recommended I go for the NHS screening so I will . I've actually got a CVS booked in for next week. I called the foetal medicine clinic as my midwife team hadn't responded to my voicemail.

my scan is Friday. I'm dreading it .

Hi @JenJennie1985 so sorry to hear you're in this situation too. I had my scan today and the combined test, to throw us off even more everything looked normal on the scan. They said if combined comes back high risk they can refer me for a cvs but if they don't then they can't refer me and I'll have to go private. They did however call a different hospital for a second opinion, I can only hope they agree to see me regardless of the combined result. What a mess, I'd never of gone for a private nipt if I knew I'd end up stuck in all this red tape.
Is your cvs at fetal medicine through the nhs?
Good luck at your scan on Friday, I know the odds aren't in our favour but I really hope for a miracle outcome. X

Gosh this is such a stressful time. Do you know when you get the results from the combined test? I did wonder whether everything might look norml on the scan and then hopes would build again.
what happened to me was that I got my NIPT result back last Friday late afternoon. (Had it because of my age ) x
The weekend was awful, felt there was no where to turn to advice . I left a message on the answer phone of my midwife team .
on Monday afternoon I hadn't heard anything back from midwife so decided to call the foetal medicine clinic at my local hospital . I explained the NIPT result and they told me they can book me in but I need to be 12 weeks plus something, so was told I had to still attend the scan . they booked me in anyway . NHS not private .

might be worth going direct to that/similar department at your local hospital. I'm near Cambridge.

wishing you all the very best x

I was exact same, got a call Friday afternoon and it's like my world came crashing down and had an awful weekend, I know how you must of felt.
They said I'll have the results back from combined next Tuesday, then if high risk I can have the cvs that same week hopefully. I'm hoping I get a call tomorrow or Friday saying Sheffield hospital have agreed to do cvs based on private nipt, if not I'm going to call and check.
At least you have that cvs booked through the nhs, I really hope your scan goes well on Friday too. What an awful and stressful situation to be in. I'm holding on to a tiny bit of hope but trying to detach myself at the same time.

So sorry you’re going through this, it’s awful. I also got all my results on a Friday which was torture. I can’t believe the NHS won’t just take the NIPT results and move forward, that’s not good for you or them! I’ve posted on here before but just remember that the cvs tests the same cells as the NIPT (placenta). Apparently my story is super rare but I had greater than 1 in 2 risk in screening, high risk nipt, abnormal CVS and then by some miracle a normal amnio and a healthy little boy born in Jan. my scans and NT measurement were always normal. Just wanted to recommend an amnio too if scans are normal even if you get bad CVS results because that’s the only thing that tests the fetal cells, yet in my experience the NHS weren’t dead set on doing that for me after the CVS, I had to say that I wanted it to be sure. They basically said there was no way the amnio would contradict the CVS but it did. Keeping my fingers crossed for you, it’s a very traumatic thing to go through xx

My daughter went through this last year and had a TFMR at 14 weeks. She had asked for a surgical termination but not many hospitals do this any more and would have had to wait 2 weeks for BPAS to have it done so went for the medical. I spoke to ARC and they said there are not enough doctors trained in surgical termination these days so even going through BPAS they only do it one or two days a week so there is always a wait.

im sorry you are experiencing this - its a truly horrible time. Best wishes.

@CB1209 wow what a trauma you must've been through. Can I ask if you had children previously? I have heard that the CVS/NIPT can be a false positive for reason such as a loss of a twin who was positive for
a trisomy. I wonder if you ever found out the reason why? Thanks for sharing

No he’s my first, and was definitely only him as had v early scans (ivf). They diagnosed confined placental mosaicism which is when the placenta had abnormalities but as the fetus develops it corrects itself. It’s supposed to be particularly unusual for t21 but my story shows it does happen. Ironically if I’d have had him 40 years ago I’d have just had the amnio as an older mother and none of the other tests which in my case were not helpful! They do say it’s super rare so don’t want to give false hope but these things can happen x

How did it go today @JenJennie1985 ? X

@Jadey2206 unfortunately not good. A lot of fluid around head and neck. They didn't even bother with the blood test as there is so obviously an issue . Now I have to decide on medical or surgical termination. i really hope your outcome is better @Jadey2206 . All the very best x

I'm so sorry @JenJennie1985 please look after yourself x

My experience was similar. We had to to TFMR at 15+3 and I was desperate for surgical but it was a three week wait on the NHS. For me to go private I would have had to travel hours too which would have just been torture before and after.

They said I had a ‘choice’ but really I didn’t. I couldn’t wait another three weeks for a surgery and be 19 weeks - at this point I’d of had a proper belly and I was really poorly with my pregnancy due to the abnormalities so I had to do it medically.

I was devastated about it and although I have nothing to compare it too, I’m pleased I went for the medical induction instead of the surgery. It felt more natural, i felt in control, i experienced labour and I could go home after an hour.

my hospital was amazing. We had a private room. It lasted 5 hours in total and the pain was really bad but they offer any pain meds you want - even an epidural if you want it. I had coedine which was truly pointless. Lol. But the pain did get bad and they injected me with something beginning with P. It was magic and I even napped. When I woke up after half an hour it had happened.

i was so upset and anxious and scared but I do think if I was unlucky enough to have to do this again I would likely choose this option again. If you haven’t already made a decision. I know I’m late the thread but I thought it would be good to answer in case future mother’s read and want an update. You can message me and I can answer questions on my experience.

We were also told that after the first trimester, not many hospitals offer d&c, so because of the gestation the wait is longer because so many people need it doing and so little places do it.

I’ve learned a lot about how common these situations are. Where they decided the second trimester is safe is unknown to me because I think it’s BS.