CVS Wednesday- terrified

[LilyJessie]

Hello,

My partner and I had the devastating news that our scan showed cystic hygroma, and a measurement of 7.4 mm (over double what it should be).

I am totally devastated 💔
We both agreed (and I am so sorry to anyone this upsets) that we wouldn't continue if any chromosomal disability was confirmed.

Has anyone had a CVS that can provide any advice? I got nothing from the hospital. I don't even know roughly how long results take? I can't stop crying and feeling numb.

I'm so lost.

Xx

Hi
I went through the same, but it was a long time ago and I'm sure things have changed. I did find ARC very helpful and supportive. It's such a difficult time.

The limbo is awful, I'm sorry you're here too. Ours is a different sort of problem, but I had a CVS in mid Jan and the chromosomal results were back within 2 weeks. For us that microarray was just the bonus test though, still waiting for the real results! We're both carriers for a specific genetic condition so testing for that, it's too small a change to be picked up in the microarray.

CVS itself was a quick procedure. Textbook really, they used ultrasound to check where the placenta and baby were and to guide the needle, I felt a small sharp pain, and then it was done. All I noticed afterwards was a little bruise where they jabbed me, no bleeding or cramping etc, but I took it easy for a couple of days after, no heavy lifting or strenuous physical activity.

I hope yours goes smoothly and the results give you clarity. Take care xx

I had one 13 years ago. Two week wait, I find know if it's any quicker now. I'll be honest, it wasn't a pleasant experience, but you'll get through it. Good luck, whatever the outcome

I had a CVS in November and the results were back in 48 hours.

The procedure itself was uncomfortable, I could feel the needle scraping inside but afterwards there was no pain, I just felt tired and wanted to rest.

I hope it all goes really smoothly for you. Sending all best wishes.

Like a PP said, get in touch with ARC (Antenatal Results and Choices). They have a helpline, but if you pop them an email saying you really need to talk, they respond pretty much immediately. I cannot recommend them enough - a brilliant organisation for such times.

Also, I am so sorry, OP. These situations are just horrid. Wishing you and your partner so much strength in the coming days.

@valaston

Ah, isn't it awful.
Yes I'll take it easy... My head is well and truly spinning from everything.

Everything crossed for good results for you 🤞🤞 it is horrible to wait.

Lots of love to you all!
xx

@SchoolWillBeUpShitCreek

Thank you 💕 xxx

@Spyke

Glad to know that it wasn't too painful, to be honest, I'm more terrified for the result.
This mummy strength is coming through in me already... Like I would do anything and go through anything to make sure they're okay!

Thank you for sharing with me xx

4thtimeacharm

I contacted them today and have been added to a forum for support.

Thank you 💗 xx

@wizzler @4thtimeacharm

Thank you, I have contacted them today for some support 💕💗🤞 xxx

Hello

I had one 9 yrs ago and as I recall it took a few days to get back the results for the 3 most common conditions (downs, edwards, patau) but 2 weeks to get the more detailed results for a wider range of abnormalities.

@Minipie @Wizzler @Valaston @SchoolWillBeUpShitCreek @Spyke @4thtimethecharm

Hello all,

I just thought I would reach out and update you that we had some very sad news.

At our CVS the nuchal translucency measurement had increased to 12mm... The consultant said (kindly) he does not expect this pregnancy to make full term.

We had the results back today and these tests have shown that our little girl has something called Turner's Syndrome.

I had never heard of it before the week. This is a chromosonal abnormality, which is totally random, nothing that is caused by anything we have/ we did and only affects 1/2000 girls.

Our due date would have been 8th August, but because the severity of their symptoms, the consultant said they do not expect them to survive the pregnancy/ have a good quality of life.

So we will take the decision to end the pregnancy.

This will be the second pregnancy we have had that has ended in total devastation for us. First time was a very rare condition called gastroschisis... Totally random... 1/4000 babies get this.... Nothing causes it... Just something that goes wrong when their tummy muscles form. Our baby was very poorly and was unable to be carried to full term.

Second time is as described, Turner's syndrome.... Only affects girls.... 1/2000 (so again, this is about the same rarity as gastroschesis because only half babies are girls).
There is nothing that causes it. And it forms as just a mistake in the making of the genes.

I wanted to say thank you from the bottom of my heart for reaching out. Your kindness will stay with us forever 💘

XxXx

I had a school friend with Turner’s and someone I know locally also has it, I didn’t realise it could also be so serious, I am very sorry you have had this diagnosis OP.

@SirVixOfVixHall

Yes, in some cases it can be very mild and people can live a healthy and full life ❤️ lovely to hear you have met people who are able too!

Our baby has a really poorly heart too and lungs too, which can be very common in turner's syndrome. Lots of babies with this diagnosis don't make full term (so we have been told). And we have been told our baby is very poorly.

I'll definitely be looking to raise awareness of this though, as I had never heard of it before!

Turners syndrome and Gastrischisis aren't usually so severe termination is recommended so that's truly unlucky and tragic

@animalfreakofnature

Hi,

Thank you for reaching out.

Sorry I just want to make clear... termination hasn't been recommended, as it rarely is recommended.

For us, it has been an awful decision, like many families face, after bad scan news.

Having spoken to the consultants/ genetic team they have told us on this occasion with the scan information, the size of the cystic hygroma, and the health of their heart and lungs, that out baby (in the unlikely event of making full term) would be very poorly. For us, it isn't a life we want to watch our little girl suffer with.

Regarding the gastroschesis, again, it wasn't just gastroschisis that came up at the scan, and again, we were told our baby would be very unwell.

We have been supported all the way be fetal medicine consultants, and have been reassured that we are truly unlucky. We love our babies dearly, and the guilt I carry for this, will never leave me. We have decided that for us, and the information we have been given both times, watching our baby struggle, would be worse, and so we made our decisions. No one has recommended anything, just given us realistic quality of life information.

Xx

I’m so sorry to hear this. I’ve no experience of Turners but my baby had a diagnosis of Edwards and the heart wasn’t developing properly meaning a successful pregnancy would be extremely unlikely. It was devastating and I can’t imagine being in a similar situation twice. Sending you so much love. You are making the right decision for yourselves and your baby.

I am so so sorry to hear this, it’s like lightning has strike twice for you and your family. I am so sorry that your girl is so poorly and in your shoes, I would’ve made the same decision. I can’t offer any words of comfort but just want you to know that I’ll be thinking of you xxx

I am so sorry. So awful for this to happen to you once let alone twice

I'm so sorry, it's just not fair. I would make that same decision too, you're doing the best you can in an awful situation xx

I'm so sorry to read this. My sister has Turner's and was diagnosed in the 90s when she was over 10. As you say there is no familial or genetic link and it is random but I remember talking to the sonographer when carrying my two. He said it was always very clear to see which babies were severely affected and either wouldn't make it or would be very badly affected. You are absolutely making the best (incredibly hard) decision for your little girl with all the information you have. Wishing you all the resilience and peace.

So sorry Op. I had a termination due to a Pataus diagnosis. So terrible to go to hospital for a scan and have to deal with that news and subsequent decision.
I planted a rose in the garden in memory .

I remember those days as being really really dark. Sorry you are going through it.

I found ARC really supportive

I'm so sorry to hear this. Our baby had a mosaic Turner's and XXX, which was really rare too. We were told in no uncertain terms that it was not good news to us as the baby's heart was severely affected and it was obvious from the echocardiogram. I know they never recommend terminating a pregnancy but our consultant was quite frank about the baby's prognosis so for us making the decision to terminate was relatively easy (if that makes sense!). Obviously it was the hardest thing ever, but I know we did the right thing and I'm sure you're doing what's right for you too.

Sending strength and peace.