High Risk NIPT results

[Molliemoo85]

My NIPT testing has come back as high risk for Edwards syndrome. I've to go for a scan to see if any abnormalities are showing. Has anyone had a positive outcome after a high risk result? I'm devastated

[Skittles11]

Hi Mollie I'm so sorry to see this today. This is something very close to my heart after learning through testing that my baby was at high risk of Edwards Syndrome. Sadly my case did not give me the outcome I'd hoped for although I have to tell you that I spoke to a few people during those dreadful weeks and two in particular come to mind that did have more hopeful outcomes after this sort of news.

It is an incredibly tough time to navigate through when you hear that there may be something wrong, and one which I would not wish upon anyone. I remember just feeling numb. Waiting for the testing to take place is really gruelling.

If you want to private message me to chat I am more than willing to listen to your concerns xx

[Molliemoo85 in reply to Skittles11]

Hi Skittles, thank you so much for replying to me. I've taken some time to read about your journey. I'm really sorry for the heartache that you've endured. I really appreciate you taking the time to talk to me especially after everything you've been through. Im completely broken. I don't know how to even make it through to next Thursday for the scan. I think its worse knowing that there's nothing I can do to make it better. The consultant told me that he has scanned many women whose tests have been returned high risk, but who went on to have healthy pregnancies. I know in my soul that isn't going to be me. I know that no one can help me, but sometimes it eases the blame a little hearing that it's nothing that I've done wrong. Thank you for taking the time to reply to me xx

[Skittles11 in reply to Molliemoo85]

Thank you MollieI know it's a horrific time and of course I am totally with you on feeling broken. I just felt like I couldn't connect with things, that waiting time is absolutely agonising. The best advice I can give you to get through the next week - and perhaps it is cliche - but get out for walks when you can, speak to your loved ones - if there is any special person in your life that understands you and how much it took you to get here, use them.

The other thing I would say is that I did see NIPT results coming back high risk where the scan did not reflect the same concerns. Its hard to balance that hope though.

There is absolutely nothing you have done to cause this. Please take solace in that. You will get through this no matter the outcome I promise xx

[Skittles11 in reply to Molliemoo85]

Hi Mollie.I should also say that my tests happened the other way around. I had my scan first which showed potential issues, I then had a blood test which supported what they had seen on the scan. You have had the NIPT first and not the scan and as McQueeny said below, the NIPT is not diagnostic xx

[Molliemoo85 in reply to Skittles11]

Thanks Skittles. I've had several scans. There was some very slow growth at 6 weeks but it had fully caught up by 7/8 weeks and the last scan I had at 8 weeks while having the NIPT was perfect with a really strong heartbeat. I understand that it was probably too early for any of the abnormalities to show but it hits you like a train when you presume it's all going to be fine. Thanks for the reply xxx

[JA-fnuk Partner Nurse Fertility Network UK]

For more information the charity Antenatal Results and Choices [arc-uk.org]offers lots of info about screening results etc

Thinking of you

Janet-Partner

[Mudra85]

Hi Molliemoo85 I don't have direct experience of NIPT testing coming back as high risk, but I have been through similar for another genetic issue that runs in my family. I know how awful it is having to go through extra testing and then waiting to see what your fait will be (and at least in my case getting an awful outcome), so my heart goes out to you at this very difficult time.

It is possible for NIPT tests to have false positives. I recently saw a study done by a fertility clinic in the USA where they looked at over 1000 women who'd had confirmatory NIPT testing after becoming pregnant with PGT-A normal embryos. 8 of them had a NIPT result which came back as high risk, but following further prenatal testing it turned out that for 7 out of the 8 women the NIPT testing was wrong. Only 1 person out of the 8 had a correct NIPT result.

I really hope that your NIPT test turns out to be wrong, but having said that I know I felt I had to prepare for the worst case scenario.

I will thinking of you. Xx

[Molliemoo85 in reply to Mudra85]

Thanks for taking the time to reply to me and I'm sorry for your loss. I think I know in my soul that the outcome for me won't be good, and I feel like it's having to make the decision of what to do thats making me panic. I'm very naive clearly because I didn't think this could happen. Thanks for your support xx

[Mudra85 in reply to Molliemoo85]

I had much the same feelings as you. I couldn't believe what was happening to me and just felt so unbelievably unlucky. I never thought we'd get the outcome we did and it left me feeling like a bit of a fool for thinking it would work out, but that's just part of the mental gymnastics you can play on yourself when faced with such circumstances. I don't think anyone ever thinks it will happen to them, even when you know there's a possibility. We knew what we would do in the event of a bad result so that made things slightly easier, even though I really didn't want that outcome. Xx

[Molliemoo85 in reply to Mudra85]

I think I know what I'll do too, and it honestly doesn't even bear thinking about. It's inhumane to make someone wait so long to confirm the inevitable. Even though I know it can't be rushed and that everyone is doing what they can to help me. Thanks for the chat xxx

[Mudra85 in reply to Molliemoo85]

I agree, the waiting is grueling and it feels very inhumane. It's a shame they can't get you in sooner for a scan! Take care as best you can Xxx

[McQueeny]

Heya. I’m sorry you’re going through this.

But - NIPT is not a diagnostic, it’s good at ruling things out but not so good at confirming things.

A good friend of mine had a high risk result for Edwards - they were crushed - but following a scan and an amnio test the baby was fine, said baby is now 4 years old and completely healthy.

I can only imagine how hard it is - but nothing is certain yet 🤞🤞🤞💫

[Molliemoo85 in reply to McQueeny]

Thank you for sharing that story. I'm so happy for your friend. This would be the best thing to happen me, theres still hope 🍀

[McQueeny in reply to Molliemoo85]

indeed. I can’t imagine what it’s like to tolerate the wait, sending strength and hoping you can get answers soon 🤞🤞🤞