CVS test in pregnancy

[Ckathleen]

So I’m really hoping posting on here will give me a little more reassurance or guidancee.
I went for my scan at 13+3 and baby had an increased nucual translucency at 6.3mm. I’ve googled a lot and I’ve barely seen anyone with such a high NT.
I had my bloods come back at 1/2 for Down syndrome which is heartbreaking to hear as most other people online seem to have a 1/50 chance or something higher. I midwife did tell me I have been given the worst result. I had a CVS on Friday and been told I will be waiting till Tuesday for the first set of results. Is there anyone with such high NT results that has had a positive outcome? I’m a nervous wreck and really don’t want to think about termination. Any experiences of this I’d love to hear about, positive and negative please! 💖

I’m afraid I’ve got no advice to give you, but just wanted to say I know how you feel.

Our baby had an NT of 4.8 at 12 weeks and our results came back as 1:19 for Downs.

Can I ask you how you found the CVS?

Have you had your results back yet?

Thank you for replying!
The cvs wasn’t bad at all, a little uncomfortable but no actual pain. We’ve had the first lot of results back as clear for downs, pataus and Edwards. The next lot of results should be here in the next couple of days, I’m really not sure what to expect but they’ve said it’s 20% chance of a healthy baby because of NT being so high.
i hope everything goes well for you, have you decided what route you’re going to take?

@Ckathleen Did they do a local anaesthetic beforehand? I’ve heard that hurts worse than the actual needle!

I’m so pleased your first results have come back clear, it must be such a relief!

We’ve decided if it’s a significant chromosomal or genetic issue we would terminate, which was a horrible decision to come to and I’m really hoping we don’t have to. It’s hard to see that little baby wriggling around on the scan and not feel the attachment and love. We will take into account the results, and doctors opinions and then go from there … but I’m feeling everything crossed for the same news as yours! X

Yeah they did, but honestly it didn’t hurt, it was a sharp scratch a bit like a blood test, it’s just a weird feeling like I could feel the needle going through and popping layers of fat/tissue or whatever it goes through! It was very strange but not painful!
im keeping everything crossed for you!! It’s a really difficult decision and a shock as you just don’t expect a bad result to come out of the 12week scan.
im still very torn on what to do if the results come back clear, as it’s then the unknown as to what is making the baby unhealthy. And a risk of 80/20 is making it harder to decide.

We had 1:3 chance of T21 and 1:4 chance of Edward’s and Pataus NT was 4.3mm I believe - we had a CVS which came back clear, subsequent heart scans again all clear and our little boy was born in July healthy as anything (so far as we are aware). He does have loose skin on his neck, his neck was also quite bunched into his shoulders almost like a turtle when he was born but that is just his physique, nothing untoward and it seems to have been sorted mostly with osteopathy. Just wanted to share a positive story and some hope for you x

I really hope you have the results you want. I've had 2 CVS after my first son died of a genetic disease and we carry it so it's 1:4 chance. Both times we were very lucky and I have two healthy children. Wishing you all the best CVS is awful and the wait is agony! I knew from conception I would have to have one and it was horrid. Sending hugs!

I’m so so sorry for your loss! That must’ve been very hard for you!! How lovely you’ve had positive results for your other two children and they are healthy! Did you have increased NT on those pregnancies or did you have the cvs because of the genetic disease your son carried?

I only had the CVS both times because we carry a fatal disease and would have to terminate as would never ever put another child though it or ourselves. They also screened for everything else they could so we knew we didn't have any other potential disasters. Never had a normal 12 week scan we had a scan at 16 weeks after the CVS was clear.

Thank you so much for your positive story! I’m worried sick about what could happen. I’ve constantly been thinking about whether termination is the best option. However I have never liked the idea of that, and never thought I would be in a position to think about it. I’ve been told it’s 20% chance baby will be healthy. Did you get told anything like that at all?

Yes I was told all the horror information - initially I was told I’d miscarry over the weekend, then I was taken to the counselling room to discuss my “options”, told it was a 20% chance of him being healthy, but each scan (and I had a lot of them) he was still growing, still doing well. I never relaxed, I expected bad news at every scan and I’m still in disbelief that he is here and safe.
I know this isn’t the story for everyone who has been in our position, but there is a chance that you will be part of that 20% who have a successful outcome. Sending love, as it feels like yesterday that I was where you are at the moment x

Thank you so much, it feels better knowing someone has been in my position as I joined this mumsnet just for a little comfort as I know no one who’s been through this. I’m torn on whether to carry on through the pregnancy and hope for the best or to end things. 20% seems like such a low chance. I appreciate the message thank you!!

My son had 6.5mm nuchal with a >1in2 risk.
I also had the CVS. It was clear for the main trisomies. I then had a load of heart scans as a thicker nuchal can be a sign of something being wrong with the heart. They were all ok too.

He's 11 now.

Oh wow this is exactly the situation I’m in, they will soon be doing heart scans to see if anything is wrong there. So there is still a possibility that absolutely nothing is wrong even with a really high nuchal? Did they reassure you a lot that everything seems fine? They’ve put a lot of doubt in my head so far saying it’s 20% chance of a healthy baby.

Yeah they also put a lot of doubt in my head. They said there was a "very small chance" everything was fine.

Have you had the cvs results then? Sorry don't think I've fully read through

Right sorry have just read the thread properly,

So, yes when they first found the 6.5mm nuchal they basically said in not so many words it was very unlikely to all be fine. After the CVs and a couple of heart scans up at st guys and Thomas's, the fetal medicine specialist was much more positive. I had regular scans for a while but they all looked completely normal. She said I could terminate anyway and some people would be without finding anything wrong I just couldn't. Thank god I didn't but the pregnancy and in all honesty the first couple of years of his life were bloody stressful.

As I'm sure you know, not all things show in utero, and some don't show at birth either. I was watching for every little thing. When he was about 6 weeks old it transpired he breathed REALLY fast, like all the time. Like respiratory distress type fast, but without being in distress. Cue loads more investigations over the next year or so. I of course was convinced it was something to do with the nuchal, but once again they couldn't find anything and over time it resolved. When they were investigating all that, one of the consultants said he looked "syndromic" ie basically saying maybe he had an underlying issue which totally freaked me out. Anyways, maybe he has got some tiny chromosome thing (lots of people do have normal variants) but he's honestly the most beautiful, sparky, funny, cute, clever, amazing little boy you've ever met so whatevs.

Stressful time though. Can't believe it's been that long, feels lukewarm yesterday.

^like yesterday

Oh wow. Thank you for sharing!! Definitely puts me more at rest knowing there is positives out of such a high NT. I’m so pleased for you that your little boy is here and healthy! The first couple of years must’ve been stressful as the high nuchal basically indicates something somewhere isn’t right? I have recieved all my cvs results back as clear, they have booked me in for a 16week more detailed heart scan. I’m nervous my baby will be born with something wrong that a scan can’t detect. I will be asking them a lot of questions when I go there as I just sort of want to know what the worst is that could happen even with all these positive clear results. It’s such a tough time and I was really looking forward to this being my last pregnancy and being that excited mum doing the baby shopping and being organised etc but I feel I can’t shop or be excited until I get more answers 🫣

How you doing OP? Did you get results xxx