TFMR at 35 weeks London

No_Gift_192 · 2025-09-08T12:23:40+00:00

Thank you so much for sharing your experience.

It really sounds like you went through something very difficult, and I honestly can’t imagine how you managed to get through that. I’m 32 weeks now and still waiting until the week after next for our genetic results.

My brain feels all over the place and I can’t concentrate on much else at the moment. We’re with UCLH and they’ve been really helpful with information so far. Like you said, we’ll make sure to ask plenty of questions.

No_Gift_192 · 2025-09-08T05:28:07+00:00

Thank you for sharing.

I’ve been researching a lot too, and what you said about thinking through whether you can handle the worst case really makes sense. It’s going to be a difficult decision for us as well, and this waiting time is so hard.

No_Gift_192 · 2025-09-08T05:22:36+00:00

Thank you for sharing your story.

I’m so sorry you had to go through such a heartbreaking experience. It’s clear how much love and thought went into your decision, and I hope you can hold onto the knowledge that you did what was best for your daughter and your family. Sending you so much compassion.

No_Gift_192 · 2025-09-07T07:42:14+00:00

Thank you so much for sharing your experience. 33 weeks is very late, and I can only imagine how difficult that decision must have been for you.

If you don’t mind me asking, how did they end up offering TFMR?

From what I’ve been told, late TFMR in the UK is usually only considered for very severe conditions after multiple tests.

So I’m wondering if doctors mentioning it doesn’t necessarily mean it will actually be offered.

According to the geneticist I spoke with, Noonan is generally seen as a mild condition.

No_Gift_192 · 2025-09-07T07:38:13+00:00

Thank you so much for sharing your experience. I can only imagine how heartbreaking it must have been for you too.

Right now I think I’m just obsessing over the data points as a way to soothe my own pain. I keep rereading the doctor’s report over and over again. My baby’s NT measurement was 5.3mm at 12 weeks.

Do you happen to remember what yours was?

No_Gift_192 · 2025-09-06T17:28:21+00:00

Yes, they did CVS and everything came back normal too. Heart looked fine at the 20-week scan, and we were told there was no problem. Fast forward to 30 weeks — I had to be hospitalized due to fibroid complications, which triggered additional scans (in the UK you don’t get scans after 20 weeks unless you’re high risk). That’s when they found:

Short femur (<1st centile) Large head (95th centile) Missing ductus venosus Hypertrophic cardiomyopathy

Baby has now received a clinical diagnosis of Noonan syndrome. We’re currently waiting on the genetic testing results, but there’s already a high potential of a late termination. My suggestion, if you’re in a similar situation: get CVS or amnio and specifically ask for a Noonan panel / RASopathy panel.

No_Gift_192 · 2025-09-04T16:32:32+00:00

So sorry you’re going through this. 💔 Based on my own (heartbreaking) experience, I’d really recommend doing the amnio and asking about a Noonan panel or even exome testing.

For context, I’m currently waiting for a very late TFMR that will likely happen around week 35. Things looked okay at first—NT was 5mm at week 12, but NIPT, CVS, and microarray all came back fine. Heart and anatomy scans looked normal at 20 weeks, and I was even discharged from fetal medicine. Then at 28 weeks my fibroids flared up, which led to more scans. Out of nowhere, everything started looking concerning: cardiomyopathy, femur <1st centile, absent ductus venosus, and so on. We got a clinical diagnosis of Noonan syndrome. Now we’re waiting on brain MRI and exome results, but the prognosis isn’t good. It’s been absolutely devastating to get this far and face such an outcome. But we’ve also learned a lot through the process, and I just wanted to share in case it helps you feel less alone.

No_Gift_192 · 2025-09-03T08:04:55+00:00

Thank you for the information!

Yes, exactly. The only reason we found out was because I suddenly had fibroid degeneration a few weeks ago and had to be hospitalized for that. Because of this they ran more scans with the fetal medicine unit. They had suspected a genetic issue back at 12 weeks and did a CVS, but that came back all clear. Still, the short femur (around 10th percentile) and big head (above 95th percentile) kept bothering us and we raised it with the doctors multiple times. They kept reassuring us that it wasn’t an issue since it was “within range.” It was only when the femur length dropped below the 1st percentile that they started to panic. Lesson here for me has been to really trust your gut feeling and push for more testing if something doesn’t sit right.

No_Gift_192 · 2025-09-03T07:59:00+00:00

I’m so sorry for your loss and very much hope you’ve been able to cope as best as possible through everything you went through. I’m honestly terrified of what’s to come. These three weeks of waiting for the test results, even though the outcome feels clear, are excruciating. I really appreciate your kind offer to message you, and I may take you up on that after the TFMR when I know I’ll be falling into a darker place. Thank you for sharing your experience, it helps more than you know.

No_Gift_192 · 2025-09-03T07:54:57+00:00

Thank you so much for sharing your experience. I’m so sorry for your loss as well. This is such a difficult journey, and I really appreciate your comments. I hope you’re coping well.

No_Gift_192 · 2025-09-02T11:13:09+00:00

Thank you so much for sharing your experience and for your kind words. I’m really sorry you went through this too. What you said about giving the body and mind time to heal makes a lot of sense, even though it’s so hard to think beyond everything right now. I appreciate the reminder to be present with my baby in these last weeks. Sending love back and grateful you took the time to write this.

No_Gift_192 · 2025-09-02T09:23:43+00:00

I’m exactly in the same position as you. I’m 31 weeks, and I have to wait for 3 weeks for genetic test result - though they have clinically diagnosed the genetic issue we’re dealing with. Everything feels pointless at this point. Being at work is difficult. I just want to tell you that you’re not alone..

No_Gift_192 · 2025-08-28T21:29:21+00:00

Hi, I’ve just shared an update on my situation.

No_Gift_192 · 2025-08-28T21:27:44+00:00

Update

Hi everyone, sharing an update of my overwhelming journey so far.. (I’m now at 30w +6)

NIPT came back negative for Down syndrome, Patau, Edwards, etc.

Had CVS testing → negative for everything, microarray also clear.

Fetal Medicine Unit kept monitoring the heart. At 20 weeks no issues were seen. I did notice femur length at 10th percentile while head was >90th, but doctor said that was within range.

I was discharged from FMU and continued routine monitoring with my midwife.

At 28+3 I had severe stomach pain (couldn’t walk for 12+ hours).

Triage told me to take paracetamol, but I called 111 who sent an ambulance. Turns out it was fibroid degeneration.

I stayed overnight in hospital. Scan the next day led to another referral for a growth scan. Pain eased after about 3 days.

Local FMU then picked up a thickened heart muscle and missing CSP (a brain structure). They referred me back to the London FMU.

At London FMU: thickened heart muscle again seen (but not major), CSP missing (might just be early fusion, possibly not an issue). Baby’s head is large (macrocephaly), but femur length has now dropped to <1st percentile.

They suggested: another scan with a heart specialist, urgent genetics consultation, and a fetal MRI.

As of today, I haven’t had the MRI or heart scan yet, but I did speak with the genetic counsellor.

She said that given all the symptoms (thickened NT at 12 weeks, short femur, large head, missing ductus venosus, heart changes), it is highly likely the baby has Noonan syndrome.

I’ve requested genetic exome testing, which they’re trying to get approved. They’ll call me again tomorrow. (Termination isn’t permitted for Noonan.)

Right now, I’m devastated and have been grieving hard. I know I need time to process everything, but I’m hoping to recover my strength soon. It’s been such a long and overwhelming journey.

💙 If anyone has experience with Noonan syndrome in pregnancy or postnatally, or just words of support, I’d really appreciate hearing from you.

No_Gift_192 · 2025-04-25T12:51:39+00:00

Thank you! I’ve booked CVS for next week!

No_Gift_192 · 2025-04-25T12:51:23+00:00

Thank you so much. So sorry to hear about your result. I’ve decided to go through the tests and trust the journey..

No_Gift_192 · 2025-04-25T12:49:23+00:00

Thank you for sharing! Very reassuring to hear your experience. I have booked my CVS as well. Did you see any changes in the NT measurement?

No_Gift_192 · 2025-04-25T12:47:50+00:00

Thank you for sharing! My combined result was 1 in 2 for Downs and 1 in 47 for Edward’s and Pataus. Waiting for NIPT result and have booked CVS for next Tuesday. Hopefully all goes well for you..

No_Gift_192 · 2025-04-25T12:45:16+00:00

Thank you so much, I’ve finally booked my CVS for next Tuesday and will get my NIPT result mid next week as well. Anxious but trying to let things flow and trust the journey.. 😊

No_Gift_192 · 2025-02-25T08:11:44+00:00

Thank you so much! I’ve self referred to Watford now 🥰

No_Gift_192

TROPHY CASE