Exomphalos and high NT at 12week scan

[tinyelephants]

Hi all,

I went to my 12 week scan only to find out that my baby has a high NT measurement of 5.9mm. I was measure to be at 12weeks +1. They referred me to a Fetal Medical Unit for a second opinion in which they carried out another scan. In the space of a couple of days the scan showed that the NT increased to 7.3mm and showed that the baby had a large exomphalos with the stomach, bowel and liver. Due to this they couldn't see the right leg and are concerned about that. There was also fluid accumulation around the head and spine. Overall it was a poor prognosis and there's a high chance of chromosomal and structural abnormalities. I was offered termination, further diagnostics but I'm struggling with the concept of it all- risk of miscarriage and needles and ending a pregnancy. So I've decided to continue with further scans, with the hope that everything will be ok and let nature take its course.

I guess my question is has anyone else had a similar situation and what was the outcome?

I'm so sorry that you're going through this.

It wasnt exactly the same but my baby had 6mm NT reading, small femurs and small chin. They told me there was 1 in 3 chance it being one of the fatal trisomies. I had a CVS test and had the results a couple of weeks later. It wasn't a trisomy but FMU scans showed that our baby had a small thorax as well so the lungs couldn't work when the baby was born. Although we had no diagnosis, the consultant said it looked like a lethal skeletal dysplasia.
We decided to terminate based on the scans alone. Our baby was very much wanted but I couldn't let him suffer. A post mortem confirmed that he did have a lethal skeletal dysplasia. Once we had a formal diagnosis, then I felt immense relief.
I'm sorry I couldn't give you a positive experience.
Please consider contacting ARC who were a valuable support.
Take care and I hope everything turns out well for you and your baby. Please feel free to PM if you need someone to talk to.

Hi, you may have seen my thread. I also had a high NT measurement at the 12 week scan and then other issues were picked up at the scan with the consultant. I have been in limbo for the last 3 weeks and will not know any more until I go back to the consultant next week. I had always thought I would not want an amnio but if the risks are still high then I think I will have one as the not knowing has been very difficult. My thoughts at this stage are that I would continue with the pregnancy but that a confirmed diagnosis would assist in preparing for the birth and life with a child with that condition etc, although I am concerned that my husband may have a different view so if we got a diagnosis we would have to sit down and try and agree if possible. I can’t help with an outcome as I am still very much in limbo but I know how it feels to be going through what you are and how difficult it it. X

The risk is very low with CVS. I know it’s scary but at least you’ll know for sure what’s going on.

Wishing you luck xx

Thank you for replying. I didn't think I'd get any replies. But it honestly makes me feel better that you have gone through something similar. I've got a scan coming up this week. Maybe I'd get more information- good or bad I don't know.

Hey @tinyelephants
I'm very sorry you're finding yourself in this situation. Like pp suggested maybe give ARC a call or send them an email?
We had a TMFR due to similar in February and yes, it's the worst thing to have to make a decision like that but I find comfort in the fact that my baby won't have to suffer. It's absolutely heartbreaking to get any kind of diagnosis that shows something isn't right with your baby, but as you said, you're not alone and this part of Mumsnet is incredibly supportive.

I'm not sure if it is available there, but could you get a NIPT screening in the first instance? That is no risk to baby, and might help clarify things.

My baby had very high NT and stomach wasn’t fused. She also had fluid in her chest and stomach cavity, we had CVS which confirmed T18 and for me to save her any pain I had the TFMR a week later. The CVS wasn’t bad and didn’t hurt. The Surgical termination was absolutely heartbreaking but the choice between that and watching my baby die it was The lesser of two Awful options.

I had to know all the facts which is why cvs was the only option. I couldn’t wait weeks and weeks her growing and feeling things. Making a choice later and having to terminate at 20 weeks, which means giving birth, going through labour and going home with no baby in your arms.

It was only in March just gone and I’m trying to get pregnant. BFN today 10dpo and I broke down as I’m not coping so well Not being pregnant anymore.

So sorry you are going though this

Balajake, thank you for sharing. It sounds very similar to what I'm going through.
I'm so sorry to hear about your loss and how you are feeling now. I hope you feel better soon and get pregnant when your body is ready x

I'm not sure about NIPT. The doctor did mention it briefly in my last visit but said it doesn't pick up all the abnormalities just the two. I will be asking in my next scan. Thanks.

I had a very similar experience at a 12 week scan 3 years ago. We chose to have a CVS because it was clear there was a high chance our baby wouldn’t survive so the (very small) risk of miscarriage didn’t matter.

We found out our little boy had T18 and we decided to end the pregnancy because there was very little chance of him surviving until birth and I didn’t want him to suffer any pain.

I chose to have a medically managed termination because I felt like giving birth was the last thing I could do for him. It was painful but not awful and the staff at the hospital were amazingly supportive.

It’s a horrible time but you have to do what’s right for you. I have no regrets about the situation, what we did was right for our family but, as other posters have said, they did was what was right for them.

I’m so sorry you’re having to go through all this, it is truly shit.

Tinyelephants take good care in this difficult time. I'm so sorry that you're going through this.

Thank you @CallItLoneliness 😔

Sorry to hear you are going through this. We had an exomphalos picked up at the 12 week scan. Normal NT.
Had a CVS, which didn't show up any abnormality on a full karyotype, but lost him / her (chose not to know sex) at 16 weeks anyway, so pretty sure there was probably something there, just not anything that we know to look for if you know what I mean.
It was a rough time. I hope things work out ok for you. Look after yourself.