NT 4mm & High Risk Bloods

[Dad81]

At our 12 week scan last week my wife was told that our baby had an NT measurement of 4mm (it took the sonographer 35 minutes to settle on the reading). I was unable to attend the scan due to COVID meaning I couldn’t be there to support my wife on receiving this news.

Combined bloods came back on Friday at high risk with 1:33 for Down Syndrome and 1:29 for Edwards and Patau. We are devastated with the news and considering our next steps. This is also an IVF pregnancy which carries its own risks.

We feared we would be here again having experienced a similar situation with our daughter in 2015. Back then we received the news that our baby (not IVF) had a 3.6mm cystic hygroma and told our baby had only a 30% chance of being healthy and we should consider termination - it was all very grim. We didn’t get blood tests taken then as the specialist midwife said there was no point as it would be high risk and we opted for an amniocentesis which came back all clear. We now have a very healthy 4 year old who is the centre of our world.

To be back here again in a similar situation is heartbreaking and despite a positive result last time we can’t help but think that surely we can’t beat the odds again! We are being offered support to discuss options with consultants but we not going to bother as last time we just found them to be negative and they never provided any hope.

We are trying to be positive and say that we have roughly of 97% chance that everything will be ok but with the NT being higher this time and the bloods indicating high risk of the three main chromosomal issues it’s difficult. It’s no easier the second time around.

We are going to pay privately for a NIPT (which was not available 5 years ago) and then decide on whether we do a CVS or Amniocentesis.

Has anybody else had a similar situation?

[Ambie93]

I’m currently awaiting CVS results after an NT measurement of 8mm last week after a long time trying to get the measurement, they said with the measurement being so high there was no point taking bloods for the combined screening, had the CVS done last Tuesday and now awaiting the results. The consultant told us we have a 1 in 3 chance of the baby having chromosomal abnormalities. It’s an awful waiting game to go through and I can’t imagine how you’re feeling having been through it before. In regards to the NIPT we were told that with a high risk result already that the NIPT wouldn’t give us a full picture of all the possible chromosomal abnormalities, just something to think about. I will update when we receive our results but in the meantime I hope your daughter can distract you enough in your wait.

[CorkViaDublin]

Hello. Yea I have just had a termination because We found out after a CVS (because high NT at 12 weeks 4.5mm) that our little one had Down’s syndrome and we didn’t feel able to parent a child with special needs. You can read my threads if I can’t be any help

[Dad81]

@Ambie93 I do hope you get your results soon from the CVS. The waiting and the gap between appointments is awful and you just want answers as quickly as possible. Thank you for your comments on NIPT - we had the bloods taken yesterday and should get the results next week. We have opted for CVS on Wednesday which is the definitive answer on chromosomal issues but the last time we went for this (previous pregnancy) it couldn’t be done so we had to wait a few weeks for the amnio. So the NIPT results will either come after the cvs results or will be a gap filler for us as we await the amnio.

[Ambie93]

@Dad81 We had our results back yesterday, our baby has Turner Syndrome. We are now waiting again for an appointment with a specialist and then an anxious wait until a scan at 16 weeks. Fingers crossed you get your results through quickly!

[Dad81]

@CorkViaDublin thank you for your post and sorry to hear of your situation. We had a private scan yesterday and the NT had increased to 4.3mm (13 weeks gestation now) which the sonographer said was expected as it will grow with CRL. We couldn’t help see this as a negative though as in our previous experience the NT had reduced slightly at the second scan. The sonographer carried out a very detailed scan and said that the heart appeared to be functioning well and there was a nasal bone present but at the early stage it’s difficult to tell and only the cvs is definitive. We are having the cvs hopefully on Wednesday.

[Dad81]

@Ambie93 sorry to hear about this and the further anxious wait that you have. Time moves slowly in these situations. Did the Turners result come back in the first set of results or second?

[Ambie93]

@Dad81 The result came back with the first results. I believe that if you have requested to find out the sex of baby with the NIPT test then it would show up on that too. From what I’ve read Turners seems to have a very high NT measurement though. Fingers crossed the fluid turns out to be just ‘one of those things’ and your results come back clear.

[ReadySteadyBed]

After going through this in late 2016, it was the worst time of my life and we were so lucky to have had a positive outcome, due to this I am very cautious of any ‘odds’ or negativity from consultants in these situations now. When we have a second baby we’ll most likely go for the Harmony test anyway and a CVS if needed.

So sorry to hear you are going through this again, thinking of you x

[Dad81]

@ReadySteadyBed yes I agree that you have to be cautious about the odds that the consultants give you. We went to our CVS appointment today and we were remeasured by the consultant who said that our NT was now 2.5mm and the fetus was measuring slightly smaller at 12.6 days which is contrary to what we have been previously. It’s all very confusing because 2 days ago it was 4.3mm!? The consultant told us that different measurements can be expected sometimes dependent on position of fetus, sonographer etc. Based on what he could see today everything looked ok but we have to go with the first measurement as the marker of risk. We were unable to do the CVS due to position of placenta so we will do the Amnio in 2 weeks - in the meantime we will get our NIPT results so fingers crossed.

[CorkViaDublin]

i really hope you get a positive outcome @dad81

[Dad81]

@CorkViaDublin thank you for your kind words. We have received our NIPT test results back today and we are low risk for Downs, Edward’s and Patau’s - 0.01%.
We weren’t expecting to receive the news today so it was a welcome phone call and a relief, though we know it’s not over yet. We now need to decide if we really want to do the amnio test and also wait for the anomaly scans on the heart etc at 16 weeks and 20 weeks.

[CorkViaDublin]

That’s a difficult decision @Dad81
I know for me I couldn’t wait but we had a totally different result from the CVS. what is doc advising

[CorkViaDublin]

Hi
@Dad81
Thinking of you both over the weekend
Hope you’re ok x

[Sussexbysea]

@Dad81 we had a 3.5mm nuchal fold and a low risk NIPT result. We opted not to go for the invasive testing. We had lots of scans and a consultant checked her heart and all appears ok. I’m 24 weeks now so not long to go now

[Anja05]

Hi any more news?

[Dad81]

@Anja05 thanks for asking. The latest is that we had our 15 week scan last week and the consultant said that everything looked normal and the pregnancy is developing well. We have opted not to have the amnio because of the low risk we received from the NIPT. We are awaiting our 20 week scan in just over 3 weeks and have our fingers and toes crossed 🤞🏻

[Sussexbysea]

@Anja05 all ok here. 20 week scan went well and I’m now 26 weeks so not too much longer to go

[Sussexbysea]

@Anja05 so sorry to reply here, wrong post!!

[Dad81]

I wanted to update this post so that anybody searching on this topic can learn of the outcome, as I know from my own search that quite often the ending is never fully known.
Well this is very much a happy ending and two weeks ago we welcomed our beautiful daughter Sophia into the world. She was born without complications and is perfect in every way.
All I can say is that there is hope. Both of my daughters have been born healthy but in both pregnancies we had high NT measurements at the 12 week scan and lots of negativity from the hospital staff in the early stages only for things to get more positive as the pregnancies progressed.
So all is not lost if you are reading this and you are currently in that dark place following your 12 week scan - things can get better, so stay strong and remain positive.

[Fs252]

Congrats on the birth of your daughter. I’m currently in the black hole you mention, having a 3.5mm nuchal fold measurement given on Thursday. Your post will help me sleep tonight. All the best to you and your family.

[newmumfeb21]

What wonderful news OP - it's lovely seeing a happy outcome after what must have been a very stressful time. Congratulations to you and your family.

[newmumfeb21]

@Fs252

Congrats on the birth of your daughter. I’m currently in the black hole you mention, having a 3.5mm nuchal fold measurement given on Thursday. Your post will help me sleep tonight. All the best to you and your family.

Keeping everything crossed for you @Fs252.