NIPT Results - Potential Chromosomal Abnormality

[PZ1940]

Hi,

I am new here....I am 12 weeks pregnant with my 2nd child with the use of a donor egg (6 losses + breast cancer 2 years ago which sent me into an early menopause). I fell pregnant after my 1st IVF round to my amazement + excitment! We had our NIPT results back on Friday + there is a chance the baby could have Klinefelter Syndrome (which is an additional X chromosome in males). Naturally, we are devastated + very worried after everything else we have been through. I just can't believe this is happening.

We are seeing Professor Nicholaides at the FMC in Harley Street on Wed for a CVS test to give us some more insight + the wait is killing me!

Has anyone here had a NIPT that suggested a chromosomal abnormality + a CVS came back clear? I am sick with worry.

Thanks x

Hi @PZ1940 sorry to hear of the worry you’re going through and all you’ve been through before :( I don’t have any direct experience of high chance NIPT but we had NIPT and then an amnio because our youngest son had a high NT measurement. And from what I remember, it is very reliable for T21 (but not definite) but less accurate for others - I’ve heard of false positives from the NIPT for eg T13 but not Klinefelter (this feels like a ‘newer’ syndrome to be tested through NIPT…?)

But I do have experience of Prof Nicholaides as we went to the FMC and he performed our amnio - he was the only one I felt comfortable doing so as our pregnancy came after 2 losses. He was wonderful! We had a happy outcome - our son was born without any health concerns following a clear amnio and he’s just started preschool. I really hope all goes well for you and your baby xxx

Thanks you so much for your response @jmm499 + I am delighted that you have your happy ending, how wonderful 🤗

I am really hoping that Professor Nicholaides confirms a false positive - I just feel it is so unfair after everything we have been through but I guess life is just unfair. To some more than others!! I have heard great stuff about Prof N so I know we will be in good hands!

x

Hi @PZ1940 - also done a lot of reading on NIPT having been through the mill myself for a high NT measurement. If you go to the Reddit NIPT forum you’ll see lots of posts about false positives (not so much for Down’s syndrome but for other stuff, the NIPT is not particularly accurate for other stuff). Do you know your PPV (positive predictive value)? Not trying to dismiss your concerns but there are also some posts from parents who had true positives for Klinenfelter syndrome but they all say it isn’t a scary condition and a lot of males don’t know they have it until adulthood unless something crops up…not that I’m encouraging you to go down an internet rabbit hole (which is what I’ve done this pregnancy) but you may find it reassuring reading. Sounds like you’ve had a hell of a time, sorry you’re dealing with this on top.

Thanks @Bloodystressed1 Already at the bottom of the rabbit hole 😱
I posted on the Reddit NIPT but noone has come back to me at all 😫 I know the PPV calculator is based on maternal age but I am wondering if that is relevant to me as I have used a donor egg from a 24 year old? I also don't have any stats at all from the NIPT - they haven't been email over yet. The consultant was adamant that it was meerly a screening + I shouldn't be pessimistic yet!!

Hope all your results turn out ok x

@PZ1940 It was such a stressful and torturous time - I can remember it so clearly 💔 It feels so unfair - especially when you’ve had such a rough ride 😔 Really hoping for the very best for you ❤️

You’re in amazing hands! I had been in a spin about whether to have an amnio (I couldn’t have a CVS because of where the placenta was) - but the high NT was making me anxious and as you say, NIPT is just screening at the end of the day. But once I decided to have it, he was the only one I wanted to do it - and I didn’t doubt my decision after that.

Thinking of you ❤️

Sex chromosome differences such as Klinefelter syndrome are very different to other chromosome abnormalities.

Don't make any decisions until you've had information about the condition. It is diagnosed more now as more women have testing. previously many boys and men didn't find out they had it until puberty or beyond precisely because it didn't cause them noticeable issues.

Thank you @lesicp So hard not to assume the worst - human nature and all that! It is the not knowing :( I won't make any decisions until I have the facts for sure ) x

Hi @PZ1940 I was just thinking if you and wondered how your CVS went? I’m not sure if you’ll have results yet but hope the procedure went smoothly Xx

Thank you @jmm499
The procedure went smoothly but the result were sadly confirmed as positive.
We went ahead with a TFMR on Friday 💔
Just trying to ick myself up + move forward - we try again in the New Year x

So sorry @PZ1940, what a horrendous time. Holding you in my thoughts xx

I’m really sorry to hear this @PZ1940 - thinking of you and sending love xxx