Higher chance of Edwards T18 after NIPT

[Worriedhusband123]

Hi everyone.

I am looking for a little bit of hope..

We are currently going through our 2nd pregnancy, the first one was very traumatic, I will try and explain it.
Last year we got pregnant after a lot of trying and at the first scan the NT was slightly high (3.1) but under the 3.5 threshold. We decided to go for the combined screening because of our age (35 at the time) and got a result of 1/2 for T21, there were also other abnormalities. After a very traumatic experience which included a CVS we decided to end the pregnancy at around 16 weeks. We were told it wasn't genetic and is very unlikely to happen again..

Fast forward to a year later. We managed to get pregnant again which was exciting but very scary because of previous experience. We had a scan at 11 weeks and baby looked fine and was offered NIPT due to previous pregnancy. The results came back earlier this week and T21 was lower chance but T18 (Edwards) came back as higher chance! We are devastated. We had a scan yesterday with a senior sennographer, we actually had 2 In there and fully expected no growth or visible soft markers (12w1day) but they couldn't see anything. They said if they didn't know about the NIPT results they wouldn't be worried about anything. I know after hours of research that baby might not show any markers until later on but we took a bit of hope away from seeing growth and normal NT (1.7). I have also read a lot into false positives for Edwards which we are clinging onto. We are having a scan at 13 weeks to check the baby again and will keep going for scans, as long as no markers, up to 15 weeks when we can then have the amnio test.

I think what I am looking for is for any other stories similar to ours, positive or negative.

My wife and me are still struggling from the previous trauma, my wife has been begging for counselling for months and the NHS have been terrible. We would go private but they keep promising to sort it out their end.

I had a TFMR last year for T21 with associated health complications so understand how difficult that will have been for you.

Congratulations on your pregnancy. You say that the NIPT came back as higher chance for T18 but what were the odds given? If you’ve been for the NT measurement scan, did your wife also have bloods taken for the normal screening or was the NIPT in place of that?

How were the NIPT results delivered e.g. was this high risk flagged as an issue and a CVS or amnio offered alongside for a definitive result?

It strikes me that you may be looking at this through the lens of your last experience which is completely understandable. All you can do is look at the positive - normal NT measurement and scan - and seek more info about the NIPT risk rating. The norm is that a risk under 1 in 150 is dismissed for needing more investigation unless there has been a previous issue.

As much as you’re able to, please try and hold on to the joy of another chance at a healthy, happy baby. I’m now 42, was 41 when I conceived and then lost our baby. The prognosis of my likeliness to conceive again is pretty low, and then adding in the increased likelihood (1 in 100) of a genetic problem or loss (miscarriage or stillbirth) I’m feeling pretty despondent.

If you’re both 35/36 your risk levels are significantly lower and you would be eligible for NHS fertility support if required. Plus they will clearly offer you more support with this pregnancy as evidenced by the fact they offered you an early NIPT - I was told that this would not be offered to me and I’d need to pay privately if I wanted it.

Sorry if this feels a bit like a me-rail. I was trying to show that you have positives in your current situation and that you should try and hold onto those and focus on them. Good luck for the rest of the pregnancy, I wish you a positive outcome.

I'm really sorry for the loss of your little one, it's really really hard isn't it.

It never looked this hard in sex education at school.

Theh didn't give us a chance rating like they did in the previous combined testing with the T21 baby, it was just higher or lower rating which is a bit confusing.
They didn't offer us the combined test as they didn't want to muddy the waters with the NIPT as the NIPT is superior, apparently.

The NIPT results were delivered by phone to me, my wife couldn't handle it, when I was at work. Left straight away and told them not to call my wife but pencil us in at St Georges for a cvs, St Georges called my wife! She didn't answer but knew something was up. Telling her was absolutely awful, will stay with me forever. We were offered a CVS and the plan is to get scans weekly, if there's any signs then get a CVS locally and if there's no signs then hold out till 15 weeks and get the amnio done. They haven't actually sent the results through to my wife's nhs app, I told them to hold off until I got home. I might request them.

The previous pregnancy has definitely affected the way we are looking at this one. I don't know what the chances are of having a T21 and then a T18 after. You go through waves of feeling positive and then a wave of negatively usually follows that 4 fold.

Hard to concentrate on work and normal things when this is going on and there seems to be such contradicting information online.

Preying for a false positive

Definitely pursue clarity on the level of risk here. ‘Higher’ risk is not a helpful measure and not very scientific!

It may be they can send through the results but you might need someone to talk you through them. I’d suggest seeing if there is a screening midwife who is available to do this.

If you’re still unsatisfied you can request the routine blood test - that is significantly cheaper than them performing a CVS and obviously less invasive and is no harm to the baby. There is a helpful post in this section that breaks down what the results for each element mean.

Should the screening and the NIPT both come back as high risk I would then look at the CVS or amnio.

We are going back next week for a 13 week scan to check development, its with a lady we dealt with before. I will get her to go over the results with us.

I did try to push for the combine screening for a #/# result but they were very against it, they said NIPT was the best but then told us about the false positives, I thought the combined wouldn't of hurt.

Time was flying by before all of this, now it is going so slow.

On a side note, someone in our family was told they would find it hard to conceive and had a healthy baby recently and they are 41, there's always a chance

Our screening midwifes have been amazing I must add. They are supporting us with the scans and take us to a private room to speak to us so we are not sat with all the new parents with new baby's. It's just the aftercare that let the NHS down in our experience. Arc are brilliant though. I speak to them when feeling really down about it

How are you getting on OP? Your post took me straight back to getting the higher risk call for T18 and T13, the wait was awful. Hope you are doing OK, there's really no words to describe how hard these things are.

Unfortunately ours wasn't a happy ending. Went for a scan at 15 weeks and there was no heartbeat. Both heartbroken, it will take some time. At the moment I can't imagine trying again but we will see.

@Worriedhusband123

I am so sorry for the loss of your baby. It’s just devastating. I had multiple miscarriages and then a TFMR at 23 weeks. I did eventually go on to have two children.

I have spent years talking to various counsellors and you do at some point move forward and come to terms with the losses Take care of yourself and your wife.

@Dinnerisburnt I an sorry you had to go through that. My wife really needs to talk to someone about it all, the NHS haven't been great. I've lost count of the amount of times they are supposed to call us back. Happy to go private for counselling if they could recommend someone local. This was our second TFMR in 8 months, first was T23 plus heart anomalies and this T18. Seems unfair, we did start just getting over the first one and this one's hit quite hard. Women have to go through so much

I'm so sorry for your loss, it's so hard and you have both been through so much. Not every trust is great on aftercare unfortunately. I accessed counselling via the NHS for multiple mc but it was a neighbouring hospital not my local one. The local one were not much help. The sessions did help allot though and we carried on seeing them right through the eventual successful pregnancy. Maybe ARC can recommend someone?

We have tried arc and they couldn't find anyone local that could do face to face sessions unfortunately, they were very kind though. We actually just had a call with someone from another hospital who has given us lots of information and a bit of hope, came after a complaint.

I'm so sorry for your losses. I've sent you a PM as i work with a charity that supports families impacted by any sort of journey in trisomy 13 or 18.

@Worriedhusband123 So sorry to read your update, a cruel blow. I hope you both take the time to heal before you try again. Sometimes you just need to get off the TTC conveyor belt.

Does feel rather cruel but we aren't the only ones who have had 2 chromosome abnormalities in a row. Very much off of the TTC conveyor belt, not sure we could take anymore trauma. Might just stick to cats!