6.4mm NT at 12 week scan, Turners Syndrome after tests

[ML719]

Hi,

I’m writing this post because mainly I’d like some advice/help I suppose and partially because I’ve been scrolling through posts all week, and found some positivity in reading them, so hopefully this can help anyone going through the same.

Me and my partner went for our 12 week scan last week, and were told our baby had a high NT fluid reading of 6.5mm on the back of the neck, some fluid under the skin and on one of the lungs. We got another scan one the day from a doctor, who looked more in depth at things like structure/heart etc, structurally everything seemed to be fine and the heart although they said at this stage they cannot look to in depth.

We took the blood test screening that day, and were offered to have the CVS the next morning, which we done.

We received our blood results two day later, with a 1:15 chance of Down Syndrome and 1:2 chance of Patau Syndrome. This was obviously devastating to hear. Then the weekend came and on the Monday we got a call with the results of our CVS and it turns out our baby (which we now know is a girl) has Turners Syndrome.

We have a healthy baby girl at 3 years old and of course when you go for your 12 week scan this is the last thing on your mind, and it’s safe to say it’s been a whirl wind since.

I suppose after all this I’ve come on here to see if anyone has any experience with children with Turner’s syndrome, we’re so in limbo with what to do, as you read things like children growing up to have healthy happy full lives to children with Turners not even making it to birth. I guess we just need some clarity of what to expect, as if we did decide to go ahead with keeping our baby girl I don’t think we could go through the process of then losing her after making that decision.

Thanks

Children with Turners can absolutely live full independent lives, growing up - marriage, work, families (although will need to be adoption or suurogacy) I'm sure there will be charities who can support you in terms of prognosis

Hi OP, hope you are doing okay. Have you been in contact with the Turner Syndrome Support Society? I've found them enormously supportive and helpful, and they have lots of resources on and around Turner syndrome. As you say, it's a condition which has a really broad spectrum. Do you know if baby has full or mosaic turners? I'd imagine your hosptial should also be offering additional scans, especially of the heart and kidneys, which might help you get an idea of baby's health. Sending lots of good wishes to you x

Sorry - have just re-read your OP and seen that you've already had a clear heart scan, that's great! Have your hospital offered you any further support at all? Not sure if this helps, but I have mosaic turners and live a very normal life without any health issues (just have regular monitoring & scans to check nothing is misbehaving!)

Not my own DD but a family member has a DD with mosaic Turner Syndrome. She was born early by EMCS due to severe growth restriction and the Turner Syndrome was only discovered postnatally when they realised just HOW small she was and ran genetic tests.
She's just turned 1 and doing so, so well. Meeting all her milestones, walking around, happy and healthy. No cardiac or renal issues in evidence so far but she'll have pretty frequent monitoring of this for the forseeable future.
As a PP says, there is a really broad range of symptoms and associated issues with Turners - so many people will have a completely different (and much worse) experience of it, but certainly it is possible to live a full and healthy life with it.

Hi OP

Hope you are doing ok?
Couldnt pass without leaving comment.
We found out at 12 weeks similar to yourself after CVS testing that we were expecting a girl who had turner syndrome.

Our main hospital had no interest in supporting our decisions annd kept asking us about termination.
I did alot of research and spoke to many people about turner syndrome.
They say if you get past 16 weeks you have a higher chance of reaching birth.
you should be offered more frequant scans and also meet with fetal medicine team for a fetal heart scan between 17 and 20 weeks.

We were not that lucky. We found out at 15weeks 5 days that our little girls heart had stopped.

Hope you have managed to get further updates and scans and all.goes well for you

I had a turners diagnosis last year and found out from the cvs. I had a few scans and it was clear that the baby was just getting worse, with more fluid building up and a host of other problems. It was awful, and I knew that I hated waiting to see if I was going to miscarry or not. We opted for termination. With full turners (which I had) it didn’t seem like the girl would have a full life, and I couldn’t do that to her and to our family.

i don’t regret the termination at all, it was the right choice for us, but it is definitely very sad. I’ve spoken with a few friends and it can be really hard to take care of a child with such a low quality of life, and I knew I couldn’t do it.

Hi @ML719
I hope you and your family are well?

I wonder if you wouldn't mind posting an update?

I've found myself in a similar situation with a result of 8.1mm.
Awaiting further tests now.

Any advise much appreciated x

I just want to write a positive Turner syndrome story on here. My little sister has Mosaics Turners Syndrome, they told my Mum that 70% of her cells were affected. My Mum decided not to abort. They told my Mum that my sister would never have children. My little sister is extremely smart, very successful, married, has two kids conceived naturally and is completely normal. More normal than the rest of my family if you ask me. She got tested again before trying to concieve and they told her only 16 % of her cells were affected with turners but she probably wouldn’t be able to have a baby - they were wrong again. The only symptom that I can see that she has, is that she is extremely smart and was the top of all of classes in school :)

Hello. Sorry to read your story. I have recently found myself in a similar position, baby has large septated hygroma, hydrops and full Turners diagnosis. I have been looking for stories similar. Do you mind sharing an update please? There’s lots of cases of girls with Turners leading a normal life but many seem to be mosaic, or partial and I’m guessing their ultrasounds weren’t as concerning.

Sure. I ended up going for a termination. I had a surgical one at 14 weeks. I read about full turners and it didn't seem like she would have led a normal and healthy life, and I didn't want that for myself and husband. I wanted to be knocked out during the termination so didn't want a medical one where I would have labor pains and see what was going on. I also couldn't deal with more scans with more bad news.

The procedure was a pretty simple outpatient one, and I was home by two pm. I was really sad and took 6 weeks off from work to grieve. I also used the time to reconnect with my husband and we took a few trips. Physically I didn't have any cramps and bled for a week.

I'm writing this with my very healthy 3 month old on my arms. After the termination it took us around 6 months to conceive. The second pregnancy was pretty easy, and I didn't feel any of the crippling exhaustion I felt with the first, maybe because she was healthy and my body was working as hard.

It's an awful decision to make but for me a termination was the right thing to do for my family.

Thank you for taking the time to reply to this. I’m sorry you had to go through that but glad you have your healthy baby now. All the best!

I wanted to share my story. I am currently 13+6 pregnant. My 12 week scan showed an NT of 7mm with generalised hydrops. Was booked in to see a consultant a few days later who gave a really poor prognosis. Had a CVS the same day and got the results a few days later that my baby has turners. The doctor doesn’t expect the baby to survive more than a couple more weeks and rebooked me in for a follow up scan next week to check if there was still a heartbeat. I am devastated. Words cannot describe how awful this all is. So sad for my little baby. So we’re currently watching and waiting to see what happens. If the baby dies, they’ll induce me and I’ll have to deliver my baby. I’m so sorry for all of you who have been through or going through what I’m going through. It’s so unfair and praying for your comfort through this difficult time.

I’m so sorry, praying for you x

Sorry you are going through this. It sounds like we are in a similar position . I am now nearly 17 weeks pregnant and currently having weekly fetal medicine scans to check she still has a heart beat. The fluid seems to be getting worse. We was referred to feral cardiology as my consultant believed she has left heart hypoplastic syndrome. After a more stained heart scan she does not have this but likely hypoplaatic aortic arch and possible faulty valve. Have booked another cardiology scan for 20 weeks but don’t know if we’re doing the right thing to continue when she appears to be deteriorating in respect to the hydrops and cystic hygroma.

I’m so sorry to hear this. It’s really scary. I understand how you feel in regards to doing the right thing with continuing on with the pregnancy. I had the same conversation with my partner yesterday about whether we were doing the right thing, however, I believe that we just never know what the outcome may be and I don’t believe it’s my decision to make. I believe it is in God’s hands now and what will be will be. I’m so sorry you are going through this. It just seems surreal doesn’t it? My scan is next week. My consultant does not believe that she will survive very long which is scary and sad as I’m also mentally preparing for having to be induced and birthing my baby and all the aftermath of that. Then I’m also scared about the baby surviving and being really poorly, just feels like a lose- lose situation. All anyone wants is a healthy baby. I’ll never take that for granted again. My thoughts and prayers are with you.

I agree about the lose lose situation. I have a young toddler too and as much as I have remained strong about continuing and what will be will be, if she survives until birth we will need to be in a hospital 2 hours from home for at least 4 weeks prior to an operation (longer if premature) This is best case scenario as if the heart deteriorates more they have said they won’t offer any surgery and will arrange hospice care. I hope your scan goes okay and they can give you some reassuring news on her heart.