Turner’s Syndrome diagnosis

[JadeL7]

Hello.

Looking for some guidance, I am 13 weeks pregnant with my second daughter and have found out through CVS she has Turners. Initially picked up with an NT of 7..9mm. She has septated cystic hygromas and fetal hydrops with fluid around her lungs and the prognosis from specialists is not good. I have no first hand knowledge of Turners and most things I read online is these girls/women live a mostly normal independent life. I guess my question is, if my baby does survive to birth, given the hygroma and hydrops is she likely to be very poorly and not have a good quality of life. Has anyone had similar experiences with really worrying ultrasounds but gone on to have a girl who lives a good life? Or the opposite, does anyone know of any girls with Turners who are really sick?

Thanks in advance

So sorry to hear abput your baby ive not heard of Turners but keeping fingers crossed for you

My friend at primary has TS. She's now in her 40s. She's infertile and shorter than average (not super short) but apart from that everything is normal for her.

Thank you for your reply, do you know if she has complete Turners or partial X missing or mosaic?

Sorry no idea. She was diagnosed around the age of 10 I recall. Her parents were worried about her height. She had a series of growth hormone treatments. This was mid 90s.

In short, Turners girls do face significant physical and emotional challenges compared to the non-Turner girl, and may have difficulties in specific areas of learning, however can also be intelligent and lead fulfilling and happy lives. Early diagnosis is probably an advantage, as you can be as prepared as possible. I do know someone diagnosed as a child, actually being diagnosed was really helpful because it helped her parents understand her 'challenges' and better support her going forward - she's doing well now, aware of what she struggles with but also doing really well in many aspects of life. There are support groups.

https://tss.org.uk/?srsltid=AfmBOop6Mrs93_BizXXluuuLCdq5wHSMcP94fisSj3Srn6hgLx1o_Qqr
This might help.

I used to work with someone who had Turner’s syndrome - diagnosed in her late teens.

2 children via egg donation and IVF. On the short side, but university / professional job / all good.

Yes, a friend's sister. Infertile but otherwise lives the life she wants to. Lots of support out there.

Hello,

I just wanted to say we had the exact same news at our scan a couple of years ago now.

Our baby (Ivy) initially had a 7.5mm NF measurement that grew to 11mm within a week or so.
We took the very difficult decision to tfmr, as our consultant told us that if she were to get to term (which he didn't anticipate) and if she were to survive the birth (he didn't anticipate) she would likely be very very poorly not live for a long time after.

I googled loads about it, and there are some girls out there who live with turners syndrome so it is definitely doable. Sadly, it wasn't meant to be for us.

Any news at a scan that isn't "everything is fine" is such a lot to deal with, and I'm so sorry youre having to deal with it. xxx

I know one lady who didn’t find out until fertility tests in her 30s. Very normal life, adopted a baby and is very happy. I know another younger lady who is autistic but am not sure if this is Turners related or not, she has gone to uni though and wants to be a teacher.

having had a TFMR I understand the dilemma you are in although my baby’s diagnosis was fatal.

I knew a young woman with turners. Lovely person, bright but maybe struggled with literacy at school. A little shorter than others. Had growth hormones when young (2010s).

The young woman I know was absolutely ok with literacy, but numeracy and some spatial tasks presented her with some issues.

I should also add that my initial response was relating to Turners live births or post birth (or later) diagnoses- of course I should have been sensitive to the fact that many Turners pregnancies result in miscarriage. Condolences to anyone who lost a child.

Thank you for everyone’s replies. The doctors are offering TFMR as a first option but hearing all these stories of Turners girls and women leading normal lives is really confusing. I guess without knowing their prognosis when they were a growing baby it’s hard to compare. The doctors are giving such grave outlook due to fluid levels and hydrops and I am worried about the life changing impacts of having a very sick child that needs a lot hospital care and the impact that has on the life of my other child who is only 1.

I am sorry you had to go through this it really is such a confusing time full of conflicting emotions. I feel my head is leaning towards the same decision it’s just so hard to accept.

I work with/am friends with a lady with Turners. She is infertile, looks noticeably different to others and is very short. She has a number of health problems due to the turners and whilst has managed to work her whole adult life, has really only managed this with huge support and a lot of leeway from her employer. She has the mentality of a much younger person, and emotional difficulties. She has learning challenges but can live independently. I am sorry for your situation💐

From your post, it would appear that the hydrops and cystic hygromas are the main problem, and are the reason for recommending the TFMR, not the fact that your daughter has Turner’s syndrome. Sadly I would be guided by your doctors.

I know a lovely intelligent lady with Turner’s who was a midwife and health visitor who underwent successful fertility treatment.

Thinking of you and sending virtual hugs 💐💐

@JadeL7
It is such an awful decision to have to make, but please know, you are not alone.
ARC are great to talk too, and if you decide to TFMR, Petals.
It's just such a hard and difficult decision to make. Because it has to come from you.
But your prognosis sounds very similar to mine, and it was so heart breaking xxx

I wonder if this is the same person I know. If so although her life has been very full and relatively normal, her family have sadly never given her the support she deserves/desvered!

I wanted to add an update for anyone who may find themselves in a similar position in the future looking for others stories.

Our daughter was born at 17 weeks and 4 days after we made the heartbreaking decision to TFMR.

To summarise our journey

• 12 week scan NT of 7.9mm and cystic hygroma
• CVS (which identified Turners) Hydrops were also identified at this appointment
• weekly scans with a fetal medicine consultant each week the swelling was worsening and the hydrops was eventually around both lungs, chest, and abdomen. Head, neck, abdomen and legs all showed swelling. Femur length was extremely short (off the chart). Consultant could not detect any blood flow through left side of heart or see a left ventricle and suspected hypoplastic left heart and referred to specialist cardiologist
• fetal cardiologist ruled out hypoplastic left heart but identified hypoplastic aortic arch along the whole length of the arch, small valves, and right side dominance already at 16 weeks, potential bidirectional flow in aorta. Could not say whether surgery would be offered if she made it to birth or whether only palliative care. Were told success rates of surgeries are not great even for otherwise healthy babies born at term. Offered another heart scan around 20 weeks.

We made the decision to TFMR prior to a second heart scan based on already having a young toddler, living 90 minutes/ 2 hours away from the specialist hospital she would need to be delivered at and also stay in the NICU and be in patient for minimum 4 weeks prior to surgery if surgery was granted (likely a lot longer due to likelihood of early delivery, lower birth weight and complications due to fluid) and all of this IF she made it to a viable gestation. We were told at every appointment by every specialist she would more than likely not survive to birth. The Turners didn’t really factor into our decision, we would never have terminated based on the Turners alone as we didn’t believe it would lead to a particularly lower quality of life but the cardiac side and the experience she would have from that more so.

It Is the most cruel decision to have to make. I do believe it is the right decision for us and if we had waited and had to made the decision after another cardiac scan when I was 20 weeks (which was Christmas Eve) I think it would have been a lot harder.

The actual delivery of my daughter was peaceful and calm and we got to spend time we her, leave her special gifts, take her to the mortuary ourselves and visit her and arranged a private cremation and service for her.

Sending love to anyone else who has or is experiencing this.

@JadeL7 -
My heart goes out to you and your family.
I'm so sorry you had to tackle this horrific decision at a time which is supposed to be full of happiness and joy. I really do understand having had to do this myself.f
You did the right thing by you, her and your family.
Lots and lots of love to you. Xxx

💐 So sorry that you went through this loss. Thank you for sharing.

Please don’t feel like you need to explain yourself or your reasoning. You made the right decision for your family. I’m so sorry for your loss.

Sorry for your loss @JadeL7

It’s clear that your daughter was very very sick, and absolutely no one could blame you for making the decision you had to make 💐

Editing as I see there has been an update from the OP.

I'm so sorry this happened ❣️💐