Turner Syndrome Diagnosis

[phillipsiebg]

Hi everyone.

I'm writing in here on behalf of me and my wife. In Jan this year we found out that my wife was pregnant. However on the 2nd March on my Birthday we found out at our 12 week scan that abnormalities had been found with the baby's growth.

They found a 7.2mm NT measurement and lots of fluid around the baby. The following week we had a specialist scan and a CVS. The scan showed that the fluid had grown and the NT measurement was now 10.1mm.

Today we had the CVS results back and our baby girl has Turner Syndrome. Obviously we are devastated and very scared about the future for our baby.

The hospital have basically said the outcome will be bleak and have assumed we will be going down the medical termination route.

I'm just wanting to know if anyone else has had a similar situation to us in the past, with similar measurements and abnormalities found? I have done a lot of reading into TS and I know that many if not most girls with TS can live full and happy lives. However many of these girls make it to birth without abnormalities being found during pregnancy.

I'm so confused and heart broken. Any help would be appreciated.

Thanks,

I can't offer any words of advice but I'm praying for you and your wife 🙏🏼 and sending love ❤️

@phillipsiebg also no helpful advice I'm afraid but like the previous poster I wanted to send lots of love to you and your wife. So sorry you're going through this difficult time. Is there a Turners Syndrome charity or FB support group where you could maybe seek some other opinions/perspective? Wishing you all the best and peace with whatever decisions you make going forwards.

My best friend has TS. She was not diagnosed until she was 15. There was no pre screening for TS 30+ years ago. She leads an extremely full independent and fulfilling life. She has always worked full time. She bought her own house when she was in her 20's, drives etc, and has never been a burden on her family. Of course she is just one person, and as I understand it TS is a spectrum and she just happens to be extremely high functioning.

The other aspect of her life is she has never had a family. That is more due to her not wanting to let anyone in, because she used to get a lot of interest. To look at her you would never know anything was wrong, and it has not effected her cognitively.

I think the NHS are not being entirely helpful painting such a bleak picture. It really does not have to be that way.

Hi OP, if you haven't already, the Turner syndrome support society are a really great source of advice and support, hopefully your hospital have already signposted you to them, but I thought it was worth mentioning as they are extremely knowledgable and helpful to talk to in situations like this.

I'm sorry you are going through this. ARC can be a site for support and advice.
Antenatal Results and Choices (ARC) | Support for Parents and Professionals (arc-uk.org)

IF you do choose TFMR, I went through this for a different condition, so happy answer any questions you might have. Just remember that this isn't your fault, and nothing you did caused this ❤

I work with a wonderful funny and happy 15 year old girl with Cerebral Palsy and Tuner Syndrome. I don't know very much about her condition but I do know that she lives a full life.

Does the CVS show the extent of Turners Syndrome? Eg out of the number of cells they extracted, what % had Turners?

If the results are Mosaic, where some cells have X0 and some have XX, your daughter may be less impacted. If it shows 100% Turners, your daughter will be on the more extreme end of the spectrum.

I was personally impacted by this and did a lot of reading and research. There is a huge spectrum for Turners Syndrome, with some girls not even realizing they have it (mosaic), to others being very severely impacted and not making it to birth/living just a few days/weeks.

Wishing you all the best.

Please don't worry too. I know a family with a TS daughter. She is happy, friendly, independent, intelligent (currently away at uni and having a whale of a time). She has very slight autistic tendencies, if I can say that without being offensive. Her mother told me the only visible tell was slightly bigger hands, which isn't exactly noticeable.
I think the hospital are being very bleak and very unfair and agree with others about joining the support group.

I had to terminate a pregnancy for Turner syndrome in December. The baby had "full" turner, and realised the outlook was quite bad. I also had a scan with the fetal medicine centre, where they walked me through all the various problems with the baby. It was really sick with lots wrong.

From what I understand there is some variance with turners. If it is mosaic then some cells are normal and they can live a somewhat normal life. Unfortunately for full turners, which I had, the prognosis is quite bad.

Omg I can’t believe the messages I’m reading here. My daughter is 22 with turners she infertile yes , same height as everyone else got 10 a grades at gcse studied maths chemistry and biology at a level and studying pharmacy at a prestigious university!!! I can’t believe the ignorance and lack of knowledge and google is so worst case scenario with all this stuff!

There is another part of Mumsnet that is all about antinatal testing and you will find many people in a similar situation and many old threads you might also find helpful to read:
www.mumsnet.com/talk/antenatal_tests_choices

I'd also second speaking with ARC, the charity, they offer a lot of support. Wishing you and your wife strength and courage in this difficult time.

Hi @phillipsiebg

I hope you and your wife are well?
Would you mind giving an update if possible?

I've just had a result of 8.1mm at my 13 week scan and am now awaiting the results of a CVS test.
Obviously going down a rabbit hole looking for information

One of my Dad's friends has Turners Syndrome. No idea if her parents knew before she was born. She has always led a normal life. She's a little on the short side but she works full time and has a partner. I don't think she can have DC but she always seems happy with her life. She's extremely well travelled and always planning her next holiday. She's mid thirties. I wonder if hospital is painting too bleak a picture. Not all kids are perfect.

Hi @ovulationleavesmetired I hope you are well, I wondered if I could kindly ask you for an update on your situation, please? we have @ 16 weeks just been given a turners diagnosis. With a high NT which has been monitored for the last 6 weeks.

@phphillipsiebg, I have been in a situation where i carried a TS baby, and it wasn't a good outcome.