T21 diagnosis - termination

[NoCallerID]

Hi,

I never thought I would ever post in this section....

I am 12+2 weeks pregnant with #2 and we had decided to do a harmony test like we did with #1.

I had a private scan at 6+3 and saw a heartbeat. With my unprofessional eye I thought the heartbeat wasn't as fast as with DC1 but what do I know, everything will be fine.

Harmony test and scan was at 11+1 - the baby didn't really move, again, not like our first experience where it would just be jumping around all the time. They said it'd be asleep and all looks good.

We then went ahead and had the NHS 12 weeks scan last Wednesday (I knew I wasn't quite 12 weeks due to long cycles and knowing when I ovulated...). Again, baby didn't really move and the lady got me to move and shake so she could take measurements etc. and were dated at 11+4. She went over and over the Nuchal fold. It measured 1.9, then again 2.0... She said she wanted to make sure the measurements were correct. Even my husband (later at home) had noticed that she checked them a lot. When I asked her if the NF looked ok she said we'll get the results with the blood test.

She said we needed to come back in 10-14 days because the babies abdominal wall hasn't fully closed - coincidentally I had read about this just a few days prior and I knew that it could indicate chromosomal issues. I'm not even sure if that's what you call it? Chromosomal issues?

Anyway. Today I had a call that I was weirdly expecting. Today I was told that there's a chance greater than 99% that our baby has trisomy 21. We talked about this before our first pregnancy and this time we were even more certain that we would have a TFMR because we now have our DC1 to think about.

I have spoken to the screening midwife at our local hospital and she's invited us to go through the results tomorrow and explained in order to have a TFMR there needs to be a confirmation on the NHS that the baby in fact has T21, which means amino (from 15 weeks) or CVS now. I'll be referred to another hospital tomorrow after the consultation with the screening midwife.

I'm feeling numb. It's like a bad dream I just can't wake up from. I know deep down that we're doing the right thing but I also know that there's a bumpy road ahead. I'm feeling anger - why us? And guilt. Ohhh the guilt.

If you have been through the same or similar - how much time from getting your results to the actual procedure did pass? Did you get a choice on how to end the pregnancy? If so, what did you choose?

Thank you if you've made it this far....

Just wanted to send you lots of love at this very, very hard time. It sounds that you have got clear info and a support system/plan in place. I am very willing to provide info/answer very personal questions by PM if that would help.

Hi there. I'm sorry you are going through this. This was me 3yrs ago with my 1st pregnancy, but I was in Australia at the time, so things might be different under the NHS. We too saw a heartbeat at 6weeks, then had the NIPT at almost 11 weeks. I was called 3 days later with the result of trisomy 13. The following day I returned to the clinic for a more detailed scan. The NT was about 6mm, there was also a hernia around the umbilical cord, but also other abnormalities which were even obvious to me once pointed out such as a cleft face- not just a cleft lip!

They explained that NIPT isn't diagnostic, and went through options of CVS and amnio. If the scan hadn't been so obvious though, I would have had the CVS. I also have 4 small fibroids, so they were a little apprehensive about doing a CVS. We decided to have TFMR and I think I was booked at the hospital 2 days later.

I was 11+3 by that stage, and just assumed they'd do D&C. They advised that due to the fibroids, and risk of uterine perforation they'd prefer to do medical management. I personally think they also wanted to ensure the foetus could be sent to autopsy/histology for testing. I'm sure if I'd insisted, I could have had D&C, but was happy with the choice overall. The exact dates are hazy, but I think from NIPT blood test to TRMR was about 8-10days. I was admitted at about 8am, given tablets by 11am, passed everything by 7pm. I asked if I could go home, but they advised to stay. I stayed overnight and they let hubby sleep on a pull out bed (no idea if this is common, but we have/had no other children and I had my own room). They monitored bleeding overnight and discharged me by 10am the next day.

Sorry if TMI, but 1 thing I hadn't even considered, was what I wanted to do with the foetus. We were asked this on the morning after the procedure and it was the 1st time I really cried. Either take it home to bury in the garden/plant pot, arrange a private funeral, or the hospital would arrange the remains to go with other children to the garden of angels at the local cemetery. We'd have to wait weeks till the testing was done, but they gave us brochures about our options. After my MC in the UK, we were also given similar options, but might be hospital specific?

As odd is this might sound, TFMR was one of the few things I could actually control at that time. I knew that I could MC at anytime due to the nature of T13, and choosing the time (rather than when driving, at work etc) helped.

Feel free to ask any questions you might have. Remember that you aren't alone and this isnt your fault. Sending hugs your way xxx

Thank you so much for your replies and sorry I've not come back here sooner. It's been a hard couple of days...

@Elouera thanks for sharing your story, I really appreciate it and it helps a lot.

We had a consultation at our local hospital yesterday who referred us to a sister hospital for CVS due to only being 12+3. When we got in the room there were a total of 4 professions and the consultant talked us through all the risks and asked several times if I wanted to proceed etc, she kept talking about mosaic and how Amnio is better but CVS is accepted however it'll have to go to a board where other professionals decide whether to offer TFMR or not. I felt so patronised and wasn't expecting this at all. Once she was scanning me she changed as she saw that the baby has omphalocele. We tried for about an hours but my bladder and vieles were in the way so we'll have to go back today and hopefully can get the CVS done. She said due to the physical abnormalities we'd be offered a termination anyway and we needed to decide if wanted to proceed on just this. Again she kept going on about the NIPT not including mosaic results. We just feel so lost but seeing the gut hernia made us feel more confident in our decision. She said there's a chance it is either another trisomy on top of T21 or a totally different one with the same markers. Beckwith-Wiedemann Syndrome was mentioned in the report but said it would only be possible to detect through Amnio, I don't think I can wait another three weeks. We have made our decision and the guilt is eating us away. I'm only so early but I'm certain I've felt a couple of kicks/pops after dinner the last couple of nights. I felt DS very early too...

Strangely enough I've been thinking about what to do with the body very early on. The lady at our local hospital told me they'd arrange and pay for a funeral in their little garden or we could arrange something ourselves. We'll also be offered a post mortem. So much to think about... thanks again for you kindness.

@NoCallerID- just checking on you and seeing how things are?

@Elouera thank you, that's very kind. We're waiting for the initial CVS results which we should get on Monday.

@NoCallerID- I've been there. Its hard, but you can do it. Just remember that you arent alone. Sending hugs xxx

@NoCallerID

I had a surgical termination at 17weeks last friday. Bad 12 week scan, bad NIPT, confirmed with CVS.

Few will understand this horror show. The waiting is horrific. The decisions are crippling. You aren't alone. Be kind to yourself

@Tink12345 thank you.
As it happens, our TMFR started last week Friday too, baby was born in the early hours of Saturday.
I'm so sorry you had to go through this too. It's so utterly heartbreaking. How are you doing? Have you been recommended ARC? I've registered with them earlier this week and have been reading in their forum and it is helping me so so much knowing that we're not alone. Sending you love.

I was doing "okay" but the last two days have been horrific. Everyone assumes that now its "done" that I'll be alright. I have joined ARC, I'm finding it useful and upsetting all at once so proceeding with caution. Not sure how much of the emotion is down to grief, guilt, regret or hormones. What a mixture eh? And if I hear someone say "oh..yeah so and so had a miscarriage too" I will scream!

@NoCallerID- Sending hugs and I've been thinking about you. xxx

@Tink12345 yes. I'm the same - you cannot compare it. Eventually we've lost a child but personally I think there's a difference... We just took our toddler to the park and saw two kids with DS and one he briefly played with, I broke down as soon as we were in the car. It was just too much too soon. We can only take one day at the time and whatever we feel is ok.

@Elouera thank you!! Xx