High risk in screening test and high NT

[S1234P]

Hello, this is the first post I've written and is appreciate any advice. I've suffered with 3 recurrent miscarriages (after my first healthy baby) and am recently pregnant. At my 12 week scan, they found the my NT was measuring 4.7mm and I was transferred to fetal team who rescanned 2 days later and found it was 3.9mm - so still high.

I couldn't have a CVS due to the placenta placement and have just had my screening results through which are 1/12 for E&P and 1/35 for DS. I'm due for my NIPT tomorrow with the NHS and also an amnio in 3 weeks.

My mind is totally scrambled and I just can't help thinking the worst and am simply devasted.

Has anyone been through anything similar please - good or bad, just so I can prepare. After my previous losses and now this, I've never felt so so isolated and alone.

When I was pregnant with my LB I was given a 1/100 chance of E&P and 1/7 chance of Down syndrome. His NT was 5.3. Same as you placenta was in the wrong place for cvs. I had an NIPT which came back low risk. Still had an amnio as he had other soft markers.... came back clear after what felt like an age! I cried for days solid! It was an awful time and really impacted on my pregnancy. But my LB is now a mischievous 18 month old with nothing wrong at all. Sometimes these NT measurements are way off. Try to be positive. I felt much better once my NIPT result was back then once I knew everything was ok from the Amnio I just wanted him out. Sending hugs.

Thank you so much and I'm so pleased it all worked out for you. I've had my NIPT today and the wait is just agony - desperately hoping all comes back clear and then I have my amnio in a couple of weeks too.

It’s the most anxious time to be told the risks and wait for further tests to confirm/come back as normal.

i had a 1:40 risk and NHS NIPT results were inconclusive. Had Amnio at 15weeks- straightforward procedure, no pain at all.. but had an amniotic leak almost an hour afterwards. Repeat scans showed oligohydramnios and I had 2 weeks of bed rest to see if it would re-accumulate or whether I’d have to terminate.

thabkfulky, Amnio PCR results came back normal and further scans have showed fluid is still low but stable. I have had almost weekly scans in last month but now reducing to once a month (because of low Papp-A in combined screening) so will have at 24, 28, 32, 36 and 39 weeks.

just wanted to share my story and wish you the best of luck in waiting for your results. I know the level of anxiety is huge but try to take it one day at a time.

@septembersapphire7 - I'm so glad your results were negative and hope that you go on to have a successful pregnancy - it sounds like there is hope and you're being monitored closely too. Fingers crossed for you and thank you for sharing your story - it's going to be a long week wait but I'm trying to be hopeful :)

Hi @S1234P sorry to hear you’re going through such a worrying time :( I have been where you are but have a happy story to share. Our son’s NT was 4.7mm at 12 weeks, combined test showed greater than 1 in 4 chance of T21, low chance of T18/13. Low risk NIPT followed, they couldn’t do a CVS because of the placenta location. We had an amino at 16 weeks which was clear. 20 week scan and heart scan also ‘normal’. Our little boy arrived safe and well almost 3 years ago - we were told, after all the testing, that the NT was probably ‘just one of those things’. So stressful though, I remember it so well. He is our rainbow baby too, after 2 losses between him and our eldest - getting to 12 weeks felt like such an achievement and then to be crushed by worrying news… I really can relate :( The only advice I can offer is to take each day at a time, focus on the next step / test and just give yourself lots of love. My DMs are open if you’d like to chat at all. I’m thinking of you and hoping for the best! Xx

@jmm499 thank you so much for sharing your story - it definitely given me some hope as it's so similar to mine. I'm trying to do just this - take every day as it comes and just give myself a break! I just hope I get the good news you did x

I’m thinking of you and hope the results from the NIPT come through quickly xxx

Congratulations on your pregnancy and sorry to hear you are going through this. I think it’s totally understandable you are fearing the worst.

I have been through similar but baby has made it to almost 30 weeks and I’m hopeful that baby is fine in there. My 12 week scan showed high nuchal translucency 3.6mm. Cue being taken into the “nice room” and given all the potential awful outcomes. We were devastated.

Had NIPT at 13 weeks which came back low risk for DS, E & P. Then had amnio at 16 weeks as I was so upset I felt I needed all the information. No complications and again it came back all normal. Heart scan was normal at 17 weeks and 20 week scan was also normal. At that point, they said my risk was essentially the same as for any pregnant person.

It is a total rollercoaster and probably one of the worst things I have been through ever. I don’t think I’ll fully relax until baby arrives. It’s also something most people can’t relate to, and that is so tough! But all you can do is take it one test at a time. hopefully all will be well with your baby. Sending up a wee prayer for you both x

Hi everyone, just to give an update that the NIPT results came back and it's in the high chance category for Edwards (T18). I'm completely devasted and honestly living a nightmare at the moment. I'm booked in for an amnio as soon as I make 15 weeks (in a couple of weeks time), but not holding out any hope that the results will be any different. I just can't believe this is happening to me.

@S1234P I am so so sorry. I didn’t share my story because it didn’t end well, but I have had a similar experience and we had high risk on NIPT for Trisomy 21. I said goodbye to my little girl yesterday after deciding not to have the amniocentesis- though I totally understand why you would want a definite result. Sending you lots of love and feel free to PM me if you would like.

@Iusedtobedontcall I'm so so sorry and I know how it feels to experience a loss like this so I hope you have all the support you need around you. Likewise, my PMs are always open of you ever want to chat - this community definitely makes you feel more understood. Sending love your way too xx

Thank you. I do know the NIPT is less conclusive for Edwards than for Downs - but obviously I don’t want to give you false hopes.

In your shoes though, I would have the amnio too, to be certain. The waiting is agony though.

Everyone has been so kind and I can’t fault the excellent care I’ve received. I’m sure you’ll be well looked after. I’ve also spoken to ARC (Antenatal Results and Choices) and they are really lovely if you want to talk things through.

I’m so sorry @S1234P - what a torturous wait for the amnio too :( I’m sending you a big hug. I too have heard of false positives with the NIPT for T18 but also don’t want to create false hope. Thinking of you ❤️

And hugs to you @Iusedtobedontcall, so sorry for your loss xxx

I am so sorry. Sending lots of love. So awful for you. x

My daughter NT was 3.9 her test for downs Edwards & patu was 1-8000 but now they are saying the baby had caudal regression syndrome and they gave her the option to terminate but she said No so waiting to see the next scan in 3 weeks 🙏🏻🤞

This is my daughters scan results 💔😭see picture

Hi
very new to this site, this is my first post. I am expecting my first grandchild. We were so delighted but after my daughter had screening bloods she’s been told she is high risk for a chromosome disorder. She is now awaiting amnio at 16weeks
has anyone experienced this and it’s all turned out to be ok? Thanks