Turners Syndrome Diagnosis 13 weeks

[CroquetasDeJamon]

Hello all,

My husband and I have recently received a diagnosis of Turner's Syndrome at 13 weeks following a high NT at the 12 week scan (9mm) and blood test which indicated 1:2 for Down's Syndrome. We then opted to have a CVS which (to everyone's surprise) returned a diagnosis of Turner's Syndrome.

The consultants have indicated the antenatal care would be more specialist and would include a 16 week scan to monitor the fluid around the neck in particular. The doctors seemed quite positive about the outlook and likelihood of our baby girl being able to live a relatively healthy and normal life, albeit with regular medical care including growth hormone and hormone replacement therapy.

The issue we're having is finding out information about the prognosis of the pregnancy as we're now concerned about possible miscarriage (we're now almost 15 weeks). We're taking the diagnosis as a positive sign but we're unsure of how optimistic we should be being as stories vary massively online - it's been a rollercoaster of a couple of weeks and we're only now digesting the news of the diagnosis. Can anyone provide any advice or their own stories of a similar diagnosis? Any information would be greatly appreciated!

We're being cared for at PRM Glasgow who have been amazing so far!

If your baby girl is more severely affected than suggested/they think then the sad reality is that you may miscarry.

There is such a wide scope of how much TS can affect a person I assume it’s impossible for them to really know at this stage?

Sadly I can’t be more positive other than it’s the wait game which is stressful.

Have you chosen a name for her yet?

Thanks for your response @RandomMess !

What has your experience with this condition been?

It’s not personal but through friends. 20 years ago one was told to abort as they were told their DD would be deaf, poor vision etc basically very severely affected. This was at the 20 week scan and I was always surprised that the prognosis was so poor/definite.

Other family friends have a DD that is on the severely affected end but I know that many (or perhaps most that aren’t miscarried perhaps) aren’t anywhere near that extreme and lead “normal” lives bar fertility issues.

How long until your next scan?

Maybe you could take a look at r/Nipt on Reddit. There’s a flair with monosomy x with a lot of useful information and experience. But there are people who are sad/worried about the diagnosis but also people who are OK with the diagnosis, just so you know. I hope everything goes well with your pregnancy🌸