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Very high hCG - 1:5 Down syndrome, NIPT, CVS, TFMR

8 replies

CSSL7 · 16/05/2024 21:46

When i was going through the hell of screen tests, coming on here and reading other people’s stories really helped me. Even though our journey ended in the worst way, the waiting time was full of hope, which was better than being full of dread for me.

I promised myself that I’d share my story so there’s as much info out there as possible for other people - if I learned anything in this time it is how wildly underresearched women’s health was.

This is going to be very long and detailed of the full process we endured.

we got pregnant instantly, first try (33 f & 35 m) very planned and wanted pregnancy. in week 6 I became severely poorly, the sickness and nausea was constant. I assumed I had Hyperemesis - I didn’t know how the baby would survive the lack of nutrition. It was horrific. My partner became my carer over night. I ended up getting cyclizine from the doctor which stopped the sickness thank god - I do think I have now developed a fear of being sick or feeling sick.

I was off work from week 7 of pregnancy. We got an early scan because we assumed I was having twins because of the sickness. But just one. And all was fine. We got to our 12 week scan. I still wasn’t well at this point. The NHS scan was cold - not happy and joyful. Just felt dark looking back. they said everything looked as expected. The nuchal translucancy was 1mm (perfect) and they said it was fine - this gave us a green light to announce. I actually felt pressured to announce due to how sick I’d been and so many people had asked me what was wrong - I just wanted the news out there and to get it over with (this makes me sad looking back cuz it was not done for happy reasons).

exactly one week later we got a call to say we had a 1 in 5 risk of Down syndrome. Now what confuses me is how they told me the baby was 80% okay when actually it was 100% not okay? I think those probabilities need to be abolished and just go straight to NIPT. Send my taxes there. We immediately thought we’d keep the baby but after so much research we realised how many health problems they could potentially face - the unknown was so risky.

my combined test results were low Papp-a (0.32 MoM) and VERY high hCG (6.31 MoM) - I only found about 2 other threads with severely high hCG levels like this. 6.31 is six times higher than what a normal level would be. It was extremely high. Even if my baby wasn’t poorly, my pregnancy was going to be hell - risk of late miscarriage. Preterm labour and preeclampsia.

we got the NIPT the next day (thursday) and by Tuesday night they rang to say it was positive (99% accurate).

a lot of our hope over these two weeks held onto our nuchal translucency being 1mm.

we went for the CVS and I would say going to the dentist was worse. It was one little scratch. A second of pressure. And then they actually like pump the placenta out which they didn’t warn me about lol. But no pain. Was totally fine. And like I said, dental procedures hurt more.

we got the results the next day and got the diagnosis. We also seen excess fluid around brain and the head was measuring 2.5 weeks behind.

we chose to TFMR and I really wanted a d&c - I wanted to treat it like a medical procedure in that I had been so unwell for two months (bed bound I might add) and I would get an op to remove it to make me better. But there was a THREE week wait for my gestation. I was 15 weeks at this point. I could not wait that long. At all. No way. And then do the op at 19 weeks? It seemed insane. So I had to do the medical induction.

taking the first pill was the hardest thing I’ve ever done. I was heartbroken. Two days later I went in at 12 for the pessaries. They were put in at 1pm and it was over by 5:20pm.
after half an hour I had bad period pains, then another half an hour I got contractions. These very quickly became constant. I didn’t have any break it was a constant contraction. It was agony and I was sick from the pain cuz they couldn’t get the injection of pain killers to me quick enough. They injected me at 4:30 ish and I was pain free in minutes. I even napped for 30 mins. This worried me that I’d stopped all progress but when I woke up I went to the toilet and it slipped out and I felt two passing through. The baby then the placenta. My baby should have Measured the size of an apple at this stage but I really felt like it was inanely smaller than that. (Expected)

We chose to not see them or find out the gender. This was personal to us and we had found our pregnancy very different to anyone we spoke to or read about. Because I was so poorly, we didn’t actually ever get a chance to be excited. We couldn’t celebrate. We had no good times in the entire three months. So we hadn’t really attached to the pregnancy at all. we were obviously so devastated but we tried so hard to be as logical as we could. It really helped us through. I have since said the sickness was probably a blessing in the end because it meant I couldn’t buy anything or see anyone to make baby plans etc.

we want to try again asap (even before my next period after the loss) but we’re petrified this will happen again. We will be offered early scans and early NIPT which is great but we’re just praying for another quick pregnancy and a healthy baby this Time. Everything I’ve read says it’s unlikely to be diagnosed twice but when we never imagined this happening to us it’s hard not to start imagining other things we assume won’t happen.

we told ourselves every single day throughout this hell ‘things could be worse’. We tried so hard to see any light possible in what was a living nightmare.

i owe any strength I had through this to my partner. He has been my saving grace and I feel so lucky to have had someone like him by my side. If anyone has any questions I’m super happy to discuss and talk. Especially as it’s hard to find anyone who’s going though similar.

oh one doctor also said to me the sickness was from the high hCG levels from the DS and I won’t feel this sick next time.

OP posts:
Gilo2024 · 17/05/2024 12:07

Thank you for sharing your story. I'm sorry you've gone through this and I hope that it is more positive for you next time.

I'm currently 8 weeks. I've been very lucky with symptoms. I am petrified of any testing coming - mainly due to my age (just turned 38, conceived at 37), I know this will automatically put me in a higher chance category and I'm dreading a negative outcome.
I have been reading post after post, story after story each with a different outcome.

Was this all with the NHS?

Thank you again.

MrsScotland · 17/05/2024 14:49

Hi there

Thanks for sharing your story. I had a TFMR for T18, picked up by a 8mm NT at our 12 week scan. I felt really well in my first trimester, and then found out my HCG was quite low - pointing towards T18.

Babycentre has a few boards specifically for TTC a rainbow after TFMR and then a TFR rainbow pregnancy board. I have had a lot of support from there. I felt a desperate need to try again, especially as it had taken us 18 months to conceive the baby we lost. I was really anxious it wouldn't happen for us again. I threw myself into it, taking a good supplement, 5mg folic acid and 600mg ubiquinol for egg quality. It happened for us again after 4 cycles and here I am, 16 weeks and gradually passing through the various tests and milestones.

CSSL7 · 17/05/2024 15:33

Gilo2024 · 17/05/2024 12:07

Thank you for sharing your story. I'm sorry you've gone through this and I hope that it is more positive for you next time.

I'm currently 8 weeks. I've been very lucky with symptoms. I am petrified of any testing coming - mainly due to my age (just turned 38, conceived at 37), I know this will automatically put me in a higher chance category and I'm dreading a negative outcome.
I have been reading post after post, story after story each with a different outcome.

Was this all with the NHS?

Thank you again.

Hi! Thank you so much! <3

i did all of this through the NHS yes (other than my 9week private scan to rule out twins) - all of my testing came back super quick so I was grateful.

the combined test which you can get at the 12 week scan took 7 days exactly - they’ll give you a probability.

Good luck with everything, I’ve also read alot of threads on here and there are so many women in their 30s & 40s.

the combined test is purely a computer, for example, the computer will read the Papp-a level, the hCG level, your age, BMI, if you smoke, ethnicity and the nuchal translucency and it just looks for patterns it recognises. there is no human thought or scan that they look at for the combined test. It’s purely a computer that thinks, ‘oh I’ve seen this pattern before and it meant trisomy 21’ which alerts the midwife who will then offer NIPT.

OP posts:
CSSL7 · 17/05/2024 15:35

MrsScotland · 17/05/2024 14:49

Hi there

Thanks for sharing your story. I had a TFMR for T18, picked up by a 8mm NT at our 12 week scan. I felt really well in my first trimester, and then found out my HCG was quite low - pointing towards T18.

Babycentre has a few boards specifically for TTC a rainbow after TFMR and then a TFR rainbow pregnancy board. I have had a lot of support from there. I felt a desperate need to try again, especially as it had taken us 18 months to conceive the baby we lost. I was really anxious it wouldn't happen for us again. I threw myself into it, taking a good supplement, 5mg folic acid and 600mg ubiquinol for egg quality. It happened for us again after 4 cycles and here I am, 16 weeks and gradually passing through the various tests and milestones.

Congratulations!! I welled up reading your story - so happy for you and glad things are going well!

I will have a look for those boards as I think they may be helpful for me too to specifically read others’ that have been in a similar position. Thank you!!

OP posts:
Newnamesameoldlurker · 17/05/2024 15:43

Thank you so much for sharing this. I have noticed there is so much more sharing about miscarriage in recent years but still such a silence about TFMR. You've done such a helpful thing for other women by writing it out. I really hope your next pregnancy is problem- free. Hugs to you

MrsScotland · 17/05/2024 15:43

Awwh thank you. I really hope you get there too.

Here is the first board, it's a wee bit quiet at the moment but if you look back through the months you will see a bit more activity.

https://community.babycentre.co.uk/groups/a3873235/trying_to_conceive_after_tfmr

There are about 7 of us who have been through this who are now expecting in Oct-Dec and it's so good to be able to talk with people who have been through it and understand the hopes and fears

https://community.babycentre.co.uk/groups/a3880755/tfmr_rainbows

Trying To Conceive after TFMR

This is a group for anyone that is trying to conceive following a termination for medical reasons. This is a safe place to express concerns, share stories and…

https://community.babycentre.co.uk/groups/a3873235/trying_to_conceive_after_tfmr

intrepidgiraffe · 28/02/2025 20:02

I know this is an old thread, but thanks op for sharing your story, these type of posts continue to be helpful for those of us experiencing the same thing in future.

There seems to be such a stigma around tfmr, but particularly for Down's syndrome given the unpredictability of the condition.

Thanks again 💛

CSSL7 · 07/03/2025 12:56

Thank you so much! 💖 I can’t remember if I’ve ever updated this thread but just for future readers, I did get pregnant again five months after TFMR with a healthy baby. Low risk NIPT and perfect scans so I hope it gives you hope for your future pregnancies. I am now 25 weeks with a baby girl 🩷

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