12 week scan

[loulouhind]

Last Friday we went for our 12 week scan. All seemed to be going ok when the sonographer mentioned that the NT was a bit big, measuring at 3.77mm. She asked us to wait outside whilst she typed her report. When she came out she told us she had called maternity day unit to advise we were on our way.

As soon as we arrived we were ushered into a private room where we were greeted by a lovely midwife who was saying how sorry she was??! She explained what would happen next (re-scan). She left the room and came back to advise that the sonographer had also mentioned that they could not see part of the brain or a nasal bone. She advised us what this means (potential DS, Edwards or Patau) but could also be Turners. In the scan we had a lady who as soon as we entered the room told us how sorry she was. She continued with the scan and advised that she may have found a nasal bone. She also measured the NT as anywhere between 3.7mm and 7.7mm. After the scan they took bloods and made a referral to John Radcliffe hospital for another scan and a CVS.

today we went for the scan and CVS. Before the scan they advised they had the results back from the bloods and the results from the combined test came back as 1:5 for DS and 1:706 for Edwards and Patau. In the scan they found the NT to be 3.7mm, Hypoplasia of nasal bone, reverse DV and possible triscuspid regurgitation. She did advise that if she had not been informed of the issues with the brain she would not be concerned and all seems well but they would monitor.

We should hopefully get the results of the CVS Friday but if not it will be next week due to Christmas holidays.

by any chance has anyone been in a similar situation and what was the outcome?

Anyone? We were told Friday or at the latest next Wednesday for results when the CVS was done. In a phone call on Friday we were told maybe up to next Friday now due to Christmas.

going out of our minds!

merry Christmas

Sorry no experience of this. Did have NIPT privately but you’ve had a CVS which will be more accurate. Hope you get the results soon.

Hello, we went straight to the CVS and that’s what we are waiting the results for. I know it’s Christmas but next Friday will be almost 2 weeks

No experience to help but didn’t want to read and run.. so from the last scan potentially things may actually be okay or just not as bad as initially suspected if there isn’t a brain abnormality? That’s such a long wait for you, it’s terrifying the things that seem to make such a huge difference to the medical professionals at these scans. Really hope you have a positive outcome when you get the results

Hey OP, sending love and strength. I don't have experience of this but my youngest has Turner's, we didn't find out until post birth. She has some (mild) struggles but she's an absolute little warrior with nothing life limiting. If you do find out your baby has TS I'm happy to chat.

Hi OP. I do have some experience of this, in our case it wasn’t a good outcome. Similarly to you the NT measurement was high at the 12 week scan. It was actually measured at around 9mm so really high. We were referred to fetal medicine and they scanned again, they noticed issues with the heart and also noticed the foetus wasn’t moving its hands which is a marker of Edwards. The consultant was fairly confident it would be Edwards and the CVS confirmed this.

We got our results pretty quickly. I think test on Thursday and results by end of day Monday. But I expect strikes and Christmas are causing delays, making it all even harder.

The waiting is so very difficult and I remember the feeling of limbo and not knowing what the future looks like. Life carries on around you and friends and family can struggle to support you amid the uncertainty. For me I just needed a lot more rest than I thought, and to keep busy with unimportant activities like jigsaw puzzles and old familiar movies.

It sounds like things are more ambiguous for you, it might be worth discussing the various potential outcomes together and thinking about how you’d like to proceed in each situation. Everyone is of course different but this helped us feel more prepared for the call and like nothing could really hit us too hard because we’d already discussed it.

I’m really sorry you’re going through this and hope that everything goes the right way for you. If I could wave a magic wand I would send you strength and clarity and a time machine - failing that just know someone is thinking of you at this very difficult time 💛

Hi OP, I don't have experience exactly with what you're asking, however I did have a CVS earlier this year. This was to check for a genetic disorder regarding the brain, however they also checked for downs, Edwards and patau's. It took only 3-4 days for the results of the genetic disorder, however the downs etc results we didn't get back for about 3 weeks.
I hope all comes back well for you

Hi all

thank you for your messages during this very difficult time. I think we are prepared for the call (hopefully tomorrow) advising of the DS but have hope all will be fine.

their was plenty of movement when they scanned, like our 20 month old when he was being scanned he/she would turn their back on the scan, quite the cheeky one. In the original scan the baby actually put its hand flat out on the side of the womb and you could see it perfectly.

We have been visiting family over Christmas and because we’re not expecting a call I guess it’s made it easier to relax, not constantly looking at our phones. Tomorrow will be very different I am sure.

After Googling all of the conditions above it’s fair to say that every single one of them (if by themselves) can rectify themselves and not be an issue, the NT could be related to the heart for example which in turn (I have read) can just ‘go away’. Same with the nose, I’ve read posts when the hospital has just said it will develop in the 2nd trimester. Maybe I am clutching at straws and hoping everything is fine, but at the moment it feels like hope is all we have.

when we eventually get the call I will of course update you all.

I hope you have had a great Christmas

Morning all, so good news to an extent, we have had test results and it is negative for T21 and T13 but we need to wait for extended testing for the T18. Basically mine and my partners chromosome is near identical to that test is inconclusive. We have to wait another two weeks or so for that test result. So far so good.

Sorry, that should read mine and my partners chromosome 18 is near identical

Hey OP, glad you've had some good news! Fingers crossed for the rest of the testing. Hope you can relax a little over the Christmas period xx

Also glad to read you're getting plenty of movement, always a good sign. Try and stay positive, my daughter only had a 2% chance of surviving utero (luckily we didn't know that at the time) but she made it without any complications. Good luck with the remainder of your testing results xx

Hello, just to follow up on this

all test results came back as norma However there are a couple of concerns. I have started new post here:

www.mumsnet.com/talk/pregnancy/4716946-exome-r21-genetic-testing