1 in 2 for downs, 8mm nuchal, problems with heart

(42 Posts)
Sothisisshit Fri 16-Sep-16 16:49:06

Hello all. I have just had the scan with very bad news. I am thinking of going straight to termination without waiting for confirmation from cvs. Just don't want to be pregnant for a minute longer than necessary with this awful result. But I guess there is a tiny and minute chance that this is ok and I have to know for sure. Anyone been in this position?

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Toocold Fri 16-Sep-16 17:00:21

Hello, my dd had a 1 in 3 chance of downs, had surgery for stomach/intestine problem that is very common in downs children, she had surgery at two days old, is now 11 and there is nothing wrong with her, we were told to not expect a lot, she is very bright, and has just started secondary school, I am now pregnant again, this one has heart problems, but they aren't presenting in the normal way, again high risk of chromosome problems but having been through it all before and having had another child with no risks, I have declined all tests except scans this time as to me it's a statistic, I feel for you I really do as its a scary thing, but can be ok. Can you hold on for the tests? As you really have no guarantee at the moment, when would they be? And can you afford the private blood tests? I think it's called Harmony.

Toocold Fri 16-Sep-16 17:01:10

Not sure I was clear, my dd doesn't have downs or anything else.

MadeForThis Fri 16-Sep-16 17:19:51

Hi, we had a 1:5 chance of downs with a nuchal of 4.5. We had the harmony test which showed low risk. DD is fine.

Please do the cvs or the harmony test.

Arc I'm told give fantastic support of you want someone neutral to talk too. Good luck

WipsGlitter Fri 16-Sep-16 22:58:30

I have a child with Downs. It's not as bad as people think. I love my child more than anything in the world.

Metalhead Fri 16-Sep-16 23:02:11

I can understand that you're in shock, but why would you do anything until you are 100% sure that there is a problem? Please don't do anything until you've had a definitive diagnosis, you've still got a 50% chance of a healthy baby!

Sothisisshit Sat 17-Sep-16 13:36:09

Hi everybody. Thanks so much for your messages. It turns out now that because of the very high nuchal transparency, it is much more likely to be Turner Syndrome rather than Downs. The doctors were very pessimistic. I have posted in pregnancy thread, feeling pretty desperate and devastated, but will wait until we get the CVS results on Thursday to be sure. The amount of fluid seemed to suggest to the doctors that whatever the condition is, it is pretty severe. Thanks for replying, I appreciate it.

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KittyandTeal Sat 17-Sep-16 17:03:12

I'm so sorry you've had such bad news.

I'm guessing if you are high risk for turners then you are having a girl. I have very little knowledge but we lost our dd2 to T18. We opted for a tfmr after a very poor prognosis for her. I am happy to speak to you about this option and answer any questions you have. I'm guessing you are past 20 weeks now. We lost dd2 at 22+2 and it was tough but I don't regret our decision.

Please give arc a call, they are wonderful, they will be able to talk through testing processes, prognosis and possibly put you in touch with someone who has been through the same.

offbeatgirl Sat 17-Sep-16 21:30:37

I'm sorry that you're in this situation op. I had a similar experience in my first pregnancy - the nt was marginally lower (somewhere between 6-7), and the consultant could see pockets of fluid around the baby's organs. I was told what you've been told - that there was a very high chance of a chromosomal anomaly, but the prognosis was really poor, regardless. People sometimes are aware that women living with turner's syndrome have a really good quality of life, but very few people seem to know that virtually all pregnancies with this chromosomal anomaly sadly end in miscarriage. I think those babies that do survive tend to show lower nt measurements because their hearts and lymphatic systems had be been less affected. For me, this made it difficult to make a decision, and hard to justify that decision to people who were unaware of the high natural miscarriage rate for turner's.
I did have a tfmr at around 16 weeks. But by this point I'd had conclusive results back from my CVS, and a couple of subsequent scans which showed my baby's condition had deteriorated. It was an awful time, but I had to be as certain as I could be that my baby wouldn't survive before I ended the pregnancy. In the long run, this helped me live with my decision, and not regret it.

Sorry this isn't a positive story. I thought might help just a little to hear from someone who's been in the same situation, and who understands how you feel. I think you're right that, sadly, the baby is unlikely likely to survive when the nt score is so high, even if no chromosomal issues are present. But you might want to think about whether the CVS results would give you more piece of mind with your decision on the long run - there no right or wrong answer. I don't know if this is any consolation, but if it is turner's syndrome it is is a freak occurrence, completely unrelated to maternal age, and you'd be no more likely than any other woman to experience this in a subsequent pregnancy.

Sothisisshit Sun 18-Sep-16 08:32:05

Thank you so much kitty and offbeat. I am so sorry for your losses. It is helpful to hear your stories. I am trying to be Ok about this as I know I have two healthy kids and am so lucky. But this waiting is torture, sort of being pregnant and feeling so sick, with such a poor prognosis. I'm struggling to get my head around that shift from being so happy to so sad, so quickly. And sad that this was probably our last chance. Thank you for sharing your stories.

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Mybugslife Sun 18-Sep-16 08:53:05

Hi OP I'm sorry you're having to go through this, unfortunately I know all too well what the worry and heartache feels like.
My ds had an NT level of 7.9mm at our 12 week scan. We had a CVS but all conditions including downs, Edwards etc as well as 90+ others were all negative.
We had foetal cardiac scans as well which showed abnormal functioning heart.
We went all the way to our 20 week scan and that's where we found out ds had many anomalies. There was talk of it being caused by a few rare conditions and an amino was preformed but this was all negative also. We chose to end the pregnancy because he was just so poorly and it was the right decision for us as a family and for him. We still don't have a diagnosis.
The whole way through this journey arc was amazing! There are people on there that can help you through all sorts and I highly recommend you giving it a look, whatever the outcome is.

I really will have everything crossed for you xx

Mybugslife Sun 18-Sep-16 08:56:02

That is meant to be a NORMAL functioning heart. Sorry

Sothisisshit Sun 18-Sep-16 09:13:40

Hi bugslife, how utterly heartbreaking for you. I am so sorry. I am hoping - not sure that hope is the right word - that the cvs does come back with a definitive diagnosis. I am not sure quite what we will do if not. Not quite sure what to do in the meantime, Thursday seems a long way away and the thought of going to work is horrific!

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Mybugslife Sun 18-Sep-16 10:24:11

Be kind to yourself and do what's right for you and your family. It's an impossible decision but no one has the right to choose for you. I really am sorry you're having to go through all this.

primarynoodle Sun 18-Sep-16 10:43:00


I've been there twice love.
First time I didn't wait for a diagnosis for the same reason as you. My daughter had hydrops on her scan too which complicated things further and although given 1-5 chance of downs we had a 0% chance of survival. We had a tfmr last August.

Second time my daughter had an NT of 3.6 but really dodgy bloods. I waited for an amino this time as no hydrops and the NT was borderline. Was all clear and she was born perfect in July and is now 11 weeks.

So I've had a shit nuchal resulting in a healthy baby and a tfmr, you absolutely have to do what is right for you and ring ARC for advice. They are really frank with you about what your result means and how much hope you should have etc. I'm so sorry you are going through this it's the worst thing flowersflowersflowers

Sothisisshit Sun 18-Sep-16 10:58:19

Oh primary how utterly traumatic. Again so sorry for your loss but hooray and congratulations for your daughter. I think in our situation the 8mm nuchal is pretty conclusive and so there seems little point hanging on any longer than we have to. It's slightly complicated though as I think they said there were other issues but then they backtracked and said they couldn't really tell. And I don't actually know what the bloods looked like. I think the doctors at kings are great but to be honest by the end of the day i did feel a bit as though I was mainly a useful subject for research.

Can anyone tell me - I know this is painful - where you had the termination? Did you also have to go to a private clinic like Marie stopes? I know this won't be relevant to those of you who were further along.

Primary - am I right in thinking you got pregnant with your daughter reasonably soon ( get that it may not have felt like that)? How long did you wait before trying again?

Thanks so much again xx

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offbeatgirl Sun 18-Sep-16 11:21:59

I had my tfmr at the hospital. The care was excellent -they had a separate area of private rooms set aside for women undergoing tfmrs (so no running into women on the standard labour ward). I also received support from the hospital's clinical psychology department before and after the tfmr, which I found helpful. I would push to see if your hospital can provide you with the support and facilities you need - sending you over to Marie stopes in these circumstances seems really poor.

I didn't mention this in my first post, but my turner's pregnancy was my first, and I was lucky enough to conceive again around four months after that. I started trying again a couple of months after the tfmr.

Take care x

Sothisisshit Sun 18-Sep-16 11:29:55

Thanks offbeat. I think I will call kings tomorrow and push for their support. One issue is that there is some kind of problem with Marie stopes so have now been directed to bpas who are excessively busy. At this point I don't know if I'll get in for a tfml next week. Congrats on your baby. X

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AveEldon Sun 18-Sep-16 11:39:20

Kings should be supporting you and arranging a termination for you if you choose that route
I had a termination for fetal abnormality and it was carried out in the NHS hospital that provided the screening

Sothisisshit Sun 18-Sep-16 11:45:46

Thanks ave. I will push for that. Slightly resentful that this has been left in my hands.

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primarynoodle Sun 18-Sep-16 12:21:48

I had my tfmr in hospital, was arranged by them. I chose medical management as I was worried about the surgical impact potentially on fertility. I had her in the gynae unit NOT the maternity unit thank god and the nurses were incredibly understanding, supportive and kind.

I was still bleeding slightly until I got pregnant (12 weeks exactly between birth and new pregnancy) but that's because I had a little bit of retained products so was given antibiotics. We started trying about 9 weeks after I got pregnant very quickly.

I'm not going to lie, the second pregnancy nearly ruined me emotionally especially with all of the extra problems we had but I am so glad that we did, all I wanted was to have a baby. I'm a regular member of the arc forum though and some ladies waited a long time before trying again. I suppose it's all down to what you want and think you can handle. If you want any information or help please ask and I'm so sorry for you.

I totally understand you not wanting to wait though especially with such a bleak diagnosis, it's totally your choice but as you have already had the cvs would it be possible just to wait til Thursday? You could always ask to be booked in for the tfmr now, say for Friday, but then wait until the results just to be sure?

Sothisisshit Sun 18-Sep-16 12:45:00

Hi again primary and thanks. Everybody here is being so kind replying to my slightly mad posts. So just heard from the private clinic. They are saying I am unlikely to have the treatment until late the following week. Waiting two weeks feels like torture to me right now. I guess my next option is to get back on to kings and try to get them to book me in for Friday. Fingers crossed.

Primary I can only imagine what your second pregnancy must have felt like. So happy for you that it worked out. I know I am so fortunate to already have my two, but this pregnancy felt like an amazing late blessing. I would like to try one more time I think and I am encouraged by your story. Even if time is not on my side. Thank you x

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Mybugslife Sun 18-Sep-16 13:43:13

We had our tfmr at our local hospital too. Kings were actually amazing and really supportive of our decision. We spent a lot of time with our ds and had our own funeral director instead of going through the hospital, and weren't pushed into anything we didn't want. Xx

Mybugslife Sun 18-Sep-16 13:45:16

And in a positive note, it's not a sentence of every pregnancy after will be the same. I had a mmc after our ds but am now pregnant again and everything is completely normal so don't be put off trying again if you want but give yourself time to grieve and come to terms with what's happened xxx

Sothisisshit Sun 18-Sep-16 14:01:38

Hi again bugslife. I don't know whether we have been have been told to go to Marie stopes as this is comparatively early, although at this rate I'll be about 14 weeks. I wonder who I should call at kings. The number for self referral basically goes to Marie stopes. Guess will call unit tomorrow. X

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