Very high NT results

[Spears979]

Hi everyone,

I had my 12 week scan 2 days ago and after a miscarriage earlier this year, and this pregnancy having near constant bleeding and clots due to a haematoma, I was so happy to see a wriggling baby with a heartbeat on the screen.

Unfortunately at the end, she explained that my baby had very high NT fluid levels: 5.8mm. They took us to the quiet room and explained everything and I truly felt like the world was crashing around us. I don't think I've ever cried so much in the past 2 days ever.

The blood tests came back from the 12 week tests (I think they're called combined tests) and it gave me a 1:4 chance of baby having Down syndrome and 1:20 of having edwards and pitau's.

I was hoping to have the cvs testing straight away but they have cancelled that due to my bleeding which was heartbreaking as we just need answers.

Today we are having the NIPT screening to at least give us some indication until we can hopefully have cvs if I ever stop bleeding.

What I'm asking for please is any other positive stories. Has anyone had similar with such high chances and the NIPT screening been low?
Has anyone had high chance NIPT screening but cvs results been clear?

This limbo is absolute torture and for anyone who's also been in this situation, knows how horrific this all is so why help, advise or support would be so appreciated.

Thank you.

OP I’m so sorry you’re going through this, what a worrying time. I haven’t been through this personally so I can’t offer any experience unfortunately but I didn’t want to read and run. I hope you get some answers soon and everything is ok 💐

Thank you so much for your kind words, it’s really appreciated :) xx

Hi,
we had a similar nuchal at 5.2mm. Free beta hcg 1.933 MoM and papp-a 0.8.
Had a NIPT (SAFE) with a Higher Chance risk for Trisomy 21. Now waiting for Foetal Echo and Amniocentesis. Has anyone had a positive result after both bad NT, bloods and NIPT?

Family member went through this too. So sorry you're going through this.

My family member is not in the UK so processes are different.

They chose to terminate after they were told the baby had ds, a heart condition needing surgery along with kidney and lung issues. Babies measurements were also miles away from where they were supposed to be.

A very close friend of mine had 1:3 results for her baby. She refused the amnio and had the baby. Screening Scans and bloods all indicated down syndrome but he was born healthy.

So sorry you're going through this OP. I also went through the same situation and being in limbo was the worst.

Wishing you all the best with your results and sending hugs

Hi OP

there is a section of mumsnet specifically for antenatal tests and when I was going through something similar it was great looking back at other people’s stories (both positive and negative) so it might be worth looking there too

Hoping everything works out for you

Hi @Spears979, there are lots of similar posts to yours in the antenatal tests threads. I feel for you so much. I had a 4mm NT at my 12 week scan and a 1:2 chance of Down Syndrome so similar situation.
My NIPT came back low chance of everything. I didn‘t do amnio or cvs.
I won’t know for sure until birth (I’m 35’weeks now) but all other scans (including heart scan) have come back normal and the baby is on track growth wise.
The wait between the scan and the nipt results was horrendous, it’s just the most horrible, traumatising time and I really feel for you. There are plenty of similar stories with positive outcomes on the antenatal tests forum which have given me some hope and comfort. Thinking of you. X

Hi,

I have a two year old. Her 12 week scan showed a NT of 6.8mm. We were recommended to terminate by the local hospital with very low chance of a healthy baby. Blood results gave a 1:5 chance of each of the 3 trisomies. We were referred to a specialist Fetal medicine unit. I had a CVS and multiple scans (transvaginal and abdominal). All results came back normal.

It was unbelievably stressful and a highly anxious time. I remember being 16 weeks, waiting for a heart scan and sobbing in the shower. I felt utterly helpless and the limbo was excruciating.

I'm cautious of posting on these threads because the facts are positive outcomes with high NTs are much less likely (I read every single journal on the topic). We were very lucky. But also, they are possible.

Sending you all the good thoughts.

Our DD had a NT measurement of 12, it was off the scale! We were told she probably wouldn't survive and we should abort. We kept her. She does have a rare genetic condition and is deaf and has some learning difficulties, but she is a ray of sunshine and I think it's awful that we were encouraged to kill her.

Sorry, I don't mean NT of 12, I mean it was 8.9 at 12 weeks

Although we haven’t had our NIPT results, I’m curious of the same. If that’s high too, I’d love to know anyone who and amino/cvs and the results changed.
Thinking of you x

I had an NT of 4.9. Had a CVS and all three main trisomies were clear. Heart scans all clear. She is the absolute light of my life and is beautiful inside and out - she does have a rare genetic condition that would only have been picked up with a full karyotype which the NHS do not fund

Hang in there OP. This is horrendous to go through.

My son had a 6.5mm nuchal at 12 weeks. Chance of DS was >1 in 2, so the worst possible news. I needed to know the outcome with certainty so didn't bother with NIPT and went straight for CVS, which was clear. Ad were all subsequent scans. Had specialist fetal heart scans too as high nuchal can indicate cardiac issues too they were clear also. The boy is now 10 and no problems at all.

I have also had a baby where the nuchal was 1.3mm and the chance of downs was 1 in 2000 and the baby hat Down's syndrome. The nuchal is an indicator, someone will always be the one. And someone won't be.

Good luck. I really hope all goes your way

@Spears979 I am sorry to here what you're going through. I am going through a similar situation to you. Also having an early miscarriage this year, I fell pregnant a few months after but my combined screening and NT put me at a high risk of DS as a 1 in 74 chance.

It just seems unfair that after the loss we have had we have to go through this now. But try to stay positive. The NIPT will give you a better reading. My midwife said that most of the time people get called back, they go on to have a healthy baby.

My results were not abnormal according to my midwife:
The baby is measuring at 11+5
BHCG-0.98
NT-2.6
PAPP-A: 0.86

I think I got called back due to a higher NT at 11+5

It is hard waiting around, especially as it is a weekend and we have to wait longer for results. There is still a chance that the NIPT can be inconclusive as it is not as accurate at the CVS and amino test. Fingers crossed for you and hopefully you will get your results early next week

I completely agree with you @Sammiew123, with our previous experiences it makes it so much scarier and just seems so unfair. I was so surprised mine came back with a 1:4 as that just seems so ridiculously high to me and can’t seem to see a positive side at the moment.

The wait is the worst isn’t it! I really hope that you get the results back you want too and we can have a positive and healthy pregnancy. Keeping everything crossed for you!

My midwife didn’t say much to me that was positive but I wonder if that’s because my combined results were so high she knew she had to be realistic!

@writingsonthewall thank you so much for your reply! It’s not only given me a little bit of hope but also the reality that sometimes it seems just a fate thing how it all goes.

@Spears979 what was your Bhcg and papp-a as they are also indicators too as well as your age? Did your midwife give you a percentage of the baby not having the disorder? I was given a 98.7% chance of the baby not having ds but can only think of the 1.3% that they are likely to.

I think it varies per midwife. The midwife on the phone wasn't as reassuring as the midwife who I saw at the hospital. She said that another one of my results were low, whereas the midwife at the hospital said they were normal. Your NT is high but isn't crazy, I've read that some people having over a 6nt and their babies were born healthy.

Did the midwife give you arcs number? Apparently they are very good to talk to and will go through your results with you during the waiting period. Even though I am driving myself mad, what will be will be. It is not in our control x

Hard to believe the 6.5mm nuchal drama was 10.5 years ago. Feels like yesterday. The consultant was fairly sure it wouldn't be a good outcome so just goes to show. It's not over til it's over.

Hope you're holding up ok.

I was in a similar situation. Blood tests before the 12 week scan were abnormal, papp-a was very low (in the 0.4 range) and free beta hcg was high (in the 2 range). I have a background in natural sciences, so I studied a lot of scientific literature and the experiences of others. I knew what to be prepared for in the ultrasound but that didn't mean I didn't fell apart after I came out from the doctor's cabinet.

We got a 1:4 risk of Down in the ultrasound, although the NT was normal (I think it was around 2). The doctor suspected a hypoplastic nasal bone, this would have changed the risk to 1:2. According to what I read, a risk of 1:4 generally still means Down, and the child is very rarely healthy if the risk is 1:2.

A few days later we had a biopsy of the placenta, and the quick response came the next day. Unfortunately, our child had DS and we decided to terminate the pregnancy at 14 weeks. According to a complete karyotype study that was later reported, our child's DS was very rare (isochromosome).

Although I would like to inject you with hope, unfortunately you should also be prepared for bad news. It was my first pregnancy and we had been trying to have a child for almost 2 years. I consoled myself with the fact that it would have been much worse if I had already felt the baby's movements and then something had happened to the pregnancy, or intrauterine death had occurred, or something had gone wrong during the delivery. Of course, this does not make the situation easier, but unfortunately not every pregnancy ends with a healthy and alive child even if you made it to the second trimester.

I'm kind of in the same situation as you because I'm pregnant again, but the HCG is extremely high and has been tripling multiply times in 48 hours (28 000 at 5+4, 3 times higher than with the DS pregnancy and other causes are eliminated). So I probably have another DS pregnancy in a situation where our karyotypes are normal. But we won't be sure until around Christmas time. I'll try to not think about it too often because it does not change the outcome. But I do know it's easier to say than to do, so I'll keep my fingers crossed for you (and for myself too).

Hi everyone,

Had my NIPT results today and they were low for all 3! I was so shocked.
I know they're just a screening and not diagnostic and there may be other possibilities though.
We were supposed to have the cvs tomorrow but we've decided to wait until 16 weeks to have the amnio to be 100% certain on what's happening. Also, my bleeding is still on and off so they're not as happy to do it until it settles.

Although the 3 week wait is going to feel like torture I know it'll give us the best indication of what's happening.

So pleased to see your update @Spears979 glad to hear your NIPT came back clear. I'll keep my fingers crossed for a similarly positive cvs result as well.

Hi @Spears979 can I ask how your amnio went? Was all ok? I’m waiting for a CVS myself after a raised NT. Really hope everything turned out ok for you.

Hey!
I want to share a positive outcome. We received clear amnio results for everything, had a healthy heart scan and have now been signed off from fetal medicine finally after a healthy 20 week scan.
After the most awful first half of pregnancy, I genuinely never believed I would ever get to this point. Everything pointed towards a negative outcome and I remember reading lots of positive outcomes thinking I bet it won’t be me.
I really hope that your outcome is positive too and will be keeping everything crossed for you x

First time posting on here

was wondering if anyone has had a healthy baby

4.6 NT measurement
low Pap a
high hormone
high chance downsyndrome from nipt test ❤️

Hi

hope you get the answer you need. How far along are you?

we had the same markers. Amnio confirmed t21. Also could see short femur and amnion and chorion delayed fusion.

did You want to do more testing?