High probability of turners on nipt

[Nic2908]

Hi All,
i am 12 weeks pregnant tomorrow. I have just had private nipt results which have said there is a high probability that baby flourless could have Turner’s syndrome. Has anyone had a high probability and cvs/amnio has come back clear in this situation?I had a misscarriage at 16 weeks in March last year so I’m finding it all really difficult to manage.

I don’t know the statistics but I do know that the nipt is much less reliable for things like Turners than for (e.g.) Downs. It certainly wouldn’t be unheard of that the CVS/amnio could be clear.

@Dinosaurus86 thank you so much for taking the time to reply. I have everything crossed

Really hope you get the all clear. I don’t want to give false hope, because obviously the risks are raised, but I had genetics counselling with GOSH (due to history) and the geneticist didn’t recommend nipt at all beyond the main 3 conditions generally tested for - it’s pretty good for those (especially t21) but not so much beyond that. Anyway, good luck - I know the waiting is awful. Have you had the nuchal scan?

@Dinosaurus86 It should have been on Monday my 12 week scan but they have brought it forward to tomorrow. Can I ask about your experience of genetic counselling please? What happened what did they do I genuinely have no idea what to expect

My experience of counselling was in my current pregnancy. Because of our previous loss, I was referred immediately by the hospital and had that appointment at about 5 weeks pregnant. Because the previous condition wasn’t one reliably detected by nipt (i.e. the main 3), we weren’t recommended for that, but to wait for an amnio, if desired. Our last baby did have Turner’s and we ultimately chose to tfmr. We did wait for several weeks to see how things progressed because Turner’s children can do very well. Unfortunately it became clear that our little one was almost certainly not going to survive the pregnancy. Turner’s isn’t age related and doesn’t typically recur, so we decided only to do the amnio if the 12 week scan came back as high risk. It didn’t this time, so we’re just hoping everything is fine. I’ve also had huge amounts of bleeding, so hospital reluctant to do amnio anyway.

I’m not sure how it will work with a private nipt, but I assume you will have a detailed scan tomorrow to check the nuchal measurement etc (ours was raised last time, which is typical for Turner’s, but also various other things). I would hope you would also be referred to fetal medicine for further scans and opportunity for cvs - if it’s a big hospital they may do it there and then. I assume they would discuss with you any findings of the scan and cvs/amnio procedures. Last time, after we had our diagnosis we did also then have an appointment with a (different) geneticist who explained the condition etc.

I’m very sorry to hear about your previous loss. If you don’t know the cause then I imagine they may look into that too (or I would certainly ask them to).

Oh they may also discuss mosaicism with you. Mosaic Turner’s can be extremely mild (but isn’t always).

Apologies for all the posts - that discussion would likely happen after you get a diagnosis though (hopefully you get the all clear instead).

My friend had a high probability of Turner's on the NIPT but the amnio was clear. Baby was fine when born.

I hope things are the same for you, OP.

Thank you both so much for responding.

@Dinosaurus86 thank you for telling me about your baby with Turners and I am sorry that you have had to go through that and make those decisions.

in a situation like this is an amnio better than an cvs then? They didn’t really give me any idea they just handed me an information leaflet.

The amnio is a little more accurate when determining whether the baby is affected because of the possibility of confined placental mosaicism. That’s more likely with some conditions than others. Advantage of the cvs is you can do it earlier.

Very best of luck today

Hi ladies. Bit of a heartbreaking post from me. Baby had no heartbeat at our 12 week scan today. I’m booked in for surgical management on Monday. Thank you so much for all your kind words and support.

Oh Nic, I'm so sorry to see your update. What a tragedy.

I’m so sorry - what dreadful news. Turner’s (assuming that’s what it was) is a difficult one. When we found out the diagnosis, I had some hope because I know people can live with it with relatively few issues, but the reality is that only a tiny percentage survive pregnancy and birth.

I hope that your hospital is being supportive. Do ask about bereavement midwives if they haven’t already put you in touch - I found them very helpful.

💐

I'm so sorry for your loss ❤️