Nucal fold > 5mm and risk of DS 1:19

[Endogirl]

Hi

I know this has been posted about lots but I could do with some help! We had our scan on Weds and the nucal fold was really thick and both blood hormones were very low. Had the CVS straight away. We're 12 + 2 weeks.

The consultant said there was a 25% chance of DS and if not DS then of the remaining 75% there was a 2/3 chance there would be other serious abnormalities.

Given choice of terminating now or waiting past the 14 week point where they would have to induce me if later scans confirmed abnormalities if CVS comes back normal.

Has anyone else been through this? Did you wait or terminate early? Were you induced early and is it simply too traumatic to go through?

Thanks in advance for your help ladies. Am in a complete panic.

Hi all. You're pretty spot on! They are basically a little girl who is missing the second X chromosome and this makes them infertile and also a little short (max height 4' 7'') as they don't get a growth spurt due to hitting puberty.

We saw a lovely clinical geneticist who explained everything in great detail and was very honest with us.

Next step is a scan at 16 weeks where they will remeasure the nuchal fold and do a cardio scan. If the nuchal fold is either the same or less than at 12 weeks then we're probably in the clear but if it's worse then the pregnancy won't go full term and we will need to think about terminating.

There is also a very high chance that we will either miscarry before the next scan or we may see that the baby has died on the scan.

Nothing we can do but cross our fingers and toes that she survives and everything is ok at the scan.

I'll keep you posted on her progress.

Thanks so much for all your support. You are all truly amazing on here.

B xxxxx

endogirl - I really hope that things turn out well for you - it sounds like you are being given honest, but supportive advice and that really helps. I'm sorry too, that you (in effect) have yet more waiting. It must be very very hard. Thinking of you.

(I was previously driving btw)

Hi Endogirl, fingers crossed that the nuchal fold will decrease in the next few weeks. The waiting must be very hard; good luck with getting through till the scan. I'm glad the consultant has been clear, as Rhetorician said, and supportive. I really hope the next scan brings better news.

endogirl you sound remarkably calm and like you are in control o f your information and are coping as well as can be expected. I hope the 16 week scan brings you good news. xx

Hi Endo. Sorry to hear that there won't be certainty for a while.
You might want to post in the special needs section and there are also
websites by the Turner association. I think you might get support there, but if
not you could consider contacting a local down syndrome association as well. It's obviously
a different genetic condition, but in terms of our worries about the continuation of the pregnancy and the severity of potential health issues the issues will be remarkably similar. I wish you lots of strength.

Endogirl,
I'm so truly sorry for your news. Keeping my fingers crossed that there is some postivness from this at your next scan.
I know alot of people say it but your posts come over as very calm probably not the case. I wish you every bit of strength and prayers.

xx

Thanks everyone. I really appreciate your support.

I was feeling a bit calmer after speaking to the geneticist but I will admit that I'm now having to fight the panic constantly! I feel like I'm just waiting for the inevitable bad news on the 10th at the scan. I can't leave the house as I'm paranoid that I'm going to miscarry while I'm out and can't face having to get home and to hospital. Is that crazy??? Any coping strategies for the next 2 and a bit weeks will be gratefully received! My house has never been so spotless!!

Plus my boyfriend is away with work this week so I feel a bit alone at the moment. I've got lots of people to talk to and my best friend is coming over tomorrow to stay for the week but it's not the same as having him here with me :(

Hi Endo, glad you've got friends with you now. I have a friend who miscarried a baby with Turners a couple of years before I terminated for what turned out to be the same syndrome (though as I said before my baby couldn't have lived and I didn't know it was Turners at the time), anyway her mc was at 18 or so weeks, but it was a missed miscarriage, the baby had died a few weeks earlier, but she hadn't known. I don't know if this is more common than a sudden mc or not. However, I do think that after 12 weeks, the mc would take time, starting with cramps etc, so you wouldnt just start bleeding profusely.

You're in a sort of limbo atm- very hard- you just have to endure the next couple of weeks. I really hope it works out. For now, though, do whatever you have to to get through the time.

We're all rooting for your little girl.

Just one week of limbo land left. No pains or anything so far so all we can do is cross our fingers everything will be ok next Weds.

Hope you're all enjoying the sunshine.

B xx

Thinking of you for the next couple of days.

Thanks so much ghansell. I'm trying to keep the panic at bay but not succeeding too well. Just wish there was something we could do to influence the outcome. Horrible being so useless and unable to help our little girl.

Let us know how you get on tomorrow, Endogirl.

thinking of you and sending you good vibes for tomorrow Endogirl. Oh, why not, have a hug...

thinking of you tomorrow, hope all goes well - please update when you can xxx

Thinking of you too. Hope you get the best possible outcome. X

Thanks for all your thoughts and messages. Two and a half hours to go and I'm in a blind panic now. Can't stop crying and have no idea how I'm going to get through this. Trying to be strong and not upset our little girl too much but failing miserably.

Will let you know what the outcome is. Xxxxx

no idea what to say other than there are people here listening and waiting with you. xxx

We had the worst news yesterday. The fluid had spread all over her body and had developed in her lung cavity and abdomen. Her heart was just about beating but under so much pressure that she won't survive full term. I am absolutely devastated and can't stop crying.

We've decided to end the pregnancy now instead of just waiting to miscarry. We go back into the hospital tomorrow to be induced and deliver her. I'm not sure how we get through tomorrow. They said we need to be there at 8.30am and they would expect her to arrive in the early hours of Saturday morning. That seems like a terribly long time.

I'm so sorry to drag up horrible memories for people but how did you survive it all??? Xxxxx

oh endogirl I am absolutely gutted for you - I was worried when we didn't hear that the news was bad. I'm almost crying; I hope that others can come on and help talk you through it. So so sorry - will be thinking of you in the coming days and weeks. Take care

Endogirl, I am so very very sorry you are going through this. The thing I want to say to you most is that you will get through tomorrow as you are much much stronger than you think.

Sadly, there are plenty of us here who have been through similar experiences (in April I had to terminate my pregnancy at 22 weeks due to Edwards Syndrome). You already know how devastating it is and the recovery is long and difficult. But, one thing many of us say is that the waiting for tests and scans is by far the worst part, the uncertainty of not knowing what will happen is a kind of torture. You're through that bit now and you do know what is going to happen. The actual delivery is a frightening prospect but again, the experiences of most of us here are that you are very well looked after and all your wishes are respected. I personally chose to have lots of diamorphine so that I was less aware of what was going on, that suited me and was freely given.

Please ask any questions we might be able to answer, there is a lot of collective knowledge and experience here, we will try our best to help you through this.

Do whatever helps to get through today. I found playing mindless games on my phone whilst hiding in bed got me through.

Lots of love and strength to you.
x

I just wanted to add that it does seem a long time scale that you have been told but I think they err on the side of caution. I was induced at 11am and delivered at about 4.30pm. I was home by 8pm. They had warned me it might be the early hours too. x

Also, I meant to say there is a specific support thread here for people who have had to terminate for medical reasons:

www.mumsnet.com/Talk/antenatal_tests_choices/1214853-Antenatal-support-thread-for-women-who-have-chosen-to-terminate-7

so sorry.

oh Endogirl i'm so very very sorry to hear that your news was not what you were hoping to hear :(
i can really only echo what Egglet has said and say that you will find an inner strength that you didn't even know you had tomorrow, and you will get through it. i do think they over exagerate how long it will take for delivery....only i suppose to prepare you if it 'should' take a while. however, with my baby which i delivered at 17wks, we had the first picotin tablet at 4:30pm and she was delivered at 8:50pm - we were back home for about 11pm.
if you're online tonight and have any questions please feel free to ask, i'll keep checking back and if there's anything i can help with i will (as will any of the other ladies on these boards). i will be be thinking of you tomorrow, and please come and find us on the other thread that Egglet mentioned when you feel ready to, you'll always one of us on there xxxxxxxxxxxxx

Dear Endogirl,

I'm so sorry you are having to go through this. We lost our baby girl to Turner Syndrome in April this year and had a medical termination at 15 weeks. It is a devastating experience, something that none of us should have to go through. You will find an inner strength to get through tomorrow.

There is lots of support on here and ARC (Antenatal Results and Choices) have been a great help to us. I phoned them the following day (in tears) and they were so helpful.

I will be thinking of you tomorrow.

Beryl x