Cystic hygroma and NT Level

[Zanina]

I had my 12 week scan on Friday. I was measured at being 13+1, with an NT Level of 3.7 and cystic hygroma. And thin membrane on the chest and abdomen. The sonographer was not hopeful and expected something to show up in my blood test.

I wanted to know if anyone has any experience of something similar and were you allowed to skip the NIPT and go straight for the cvs.

Thank you for reading

Hi! At our 12 week scan (13 weeks) our baby was diagnosed with a NT of 7.0mm and hydrops. We were told to expect the worst and it was extremely unlikely that the baby would be okay. Our bloods came back as 1:5 for Downs, Edward's and Pataus.

We were referred to the Fetal Medicine Unit within 48 hours for a more in depth scan (both abdominal and trans-vaginal) as well as CVS. The scan confirmed a high NT but the specialist sonographer found no sign of hydrops and was also able to check the anatomy in much more detail.

After a couple of days, we received clear results for all three chromosome syndromes and subsequently clear results for the full microarray.

I'm now 23 weeks and baby is still with us. Her NT is still a little high but we've had four subsequent scans and nothing else can be found.

I know we are extremely lucky. I read ALOT on this in the awful days after the 12 week scan and whilst there are some positive stories, there are also many crappy ones too.

It's a really horrendous time - worse than i thought possible so I feel your pain. If you have any questions that I can try to help with (as a non medical professional) please ask!

Hi @MilkshakeandChips5 thank you so much for replying to my post. I'm so pleased to learn that your situation has had a positive outcome xx

The wait is agonising and you can't help but look it up online to try and understand what it is we are dealing with.

Your blood test, was it the initial bloods (combined test) or was it the NIPT test? I know we can pay to have it done privately, but I need to make my decision based on the cvs. So wondering if the bloods come back from the combined test, would I be allowed to skip the NIPT. And would you recommend that I go for the cvs and trans-vaginal scan?

It was the combined screening. We went straight for the CVS and didn't explore NIPT. This was because we had a referral so quickly given our results / initially diagnosis was so high and also because I'm impatient.

There is a small risk of miscarriage with CVS but most literature highlights that this is linked to where there is already a problem. I was referred to a Fetal Medicine Unit in London and saw two fantastic Drs. One who did the CVS and another who did a much more in depth ultrasound and was able to check blood flow to the heart etc.

The waiting was unbearable. I took the week off work and flipped between crying and feeling numb. Trying to keep busy helped me (our house was spotless).

That gives me hope! I will be pushing to skip it as the sonographer told me I will be referred to the Fetal Medicine Clinic and it's in my notes so my understanding is I'm being referred without waiting for the results from bloods.

Yes my understanding is the risk of miscarriage is more so with existing problems so I'm willing to take that risk even though it's terrifying.

I'm hoping the clinic will see me soon and offer the more detailed scan and subsequent cvs. I am going to look into the trans-vaginal scan but I think ultimately my decision will be made based on the chromosone results.

If you have any other advice or anything you think I should ask the consultant please let me know xx

You can see on my scan that it doesn't look right. I know the NT Level is not as high but combined with the cyst and that I can see the neck of the fetus looks thick in size it is upsetting. I compared the scan with that of my first born and it's so different. Me and my husband are like zombies atm but I think you're right, we need to keep busy which isn't difficult with a toddler lol

We would have done the same and used the CVS results to guide next steps. The scan (both abdominal and and trans-vaginal) was simply used as a way of doing a deeper look at the anatomy at the time - bearing in mind the baby is still so tiny. I got the impression they use it as a further indicator of any problems but the CVS is pretty accurate.

My experience at my local hospital at the first scan was awful. I was on my own, they didn't explain anything and I remember crying in reception waiting for bloods and being shouted at by a receptionist for not having the right form (they then took the wrong bloods and made me go back the next day). The FMU was completely different. Our questions we answered, every step was explained and I left feeling clear on what was going to happen. As someone who finds comfort in information I needed this.

On the CVS, it's uncomfortable not painful. I closed my eyes, held my husbands hand and pretended it wasn't happened!

I will ask them about the ultra sound and trans-vaginal scan and take it from there. I keep thinking what if the chromosone comes back clear, what to do about the cystic issue. But I think I need to see if there are any other issues that go hand in hand and then make a decision.

It's not fair that you had such a bad experience with the staff, but I'm glad the FMU were much better. Gives me hope that they will be as helpful and informative as possible.

I may have to go alone as husband needs to look after my son. But I'll do what I need to do for this.

Hi @MilkshakeandChips5 not sure if you will get my update. I went in yesterday for a cvs but they couldn't do it because my placenta is at the back this time. The consultant didn't measure the size of the NT fluid so I don't know if it's grown but said there's a bit of fluid at the back of the neck. He thinks it would resolve but that still doesn't take away from the fact that it indicates a genetic disorder. My combined bloods came back with 1:14 chance for Down Syndrome. So still sort of in the same position atm but I'm booked in for an amnio so have to wait now. They just kept saying that even if my amnio comes back full clear, there's still a chance it's a genetic disorder just one that hasn't been tested for.

How is your pregnancy coming along? X

Hi OP. Yes, we had similar and were offered CVS straight away. I went for private NIPT instead, had 2 weeks of waiting, came back high risk for Downs Syndrome. This was then confirmed by CVS. If I had my time over again I would go straight for CVS.

Our baby's cystic hygroma grew very quickly and there were multiple other abnormalities. I had a tfmr at around 18w after a lot of agonising.

I wish you a better outcome. The ARC-UK helpline is great for practical info and for support.

Also I didn't realise the nhs doesn't offer the NIPT test you have to go private. And I also didn't know that at the amnio the father needs to give blood so they can check his DNA/ chromosone that may have combined with mine

Hi @SylvanianFrenemies thank you for sharing your experience. I'm so sorry this happened to you as well xxx

I had a good cry about 3 days ago and feel strangely calm atm. I know there's more chance of an unwanted outcome so riding the wave until we find out.

Yes I have been directed to the ARC. not sure what I can ask them really. No one is able to tell you what to do which is the hard bit :/

Yes, it's a bit rubbish that the NIPT isn't available. My obstetrician (was under obstetric care for other reasons) said that CVS is safer than stats suggest (and explained this) and that NIPT is most useful where no issues have been identified. I'd agree with this having come through it all.

I found ARC useful for a good cry as I tried to make sense of things. They are lovely.

I was so desperate for there to be a mistake, I felt annoyed at the private NIPT sonographer when she said she could see lots of fluid.. Alternatively I wanted any chromosomal condition to be one where there were always poor outcomes. Downs Syndrome was my worst outcome because I know some people with Downs are healthy with a good quality of life. But lots aren't. In the end we couldn't take the chance - I have professional experience of the side of Downs that isn't talked about so much, was worried for my other children, and my baby was not growing with an enlarging cystic hygroma and multiple organ problems.

I will feel sad and guilty forever - but 2 years on still feel we made the right decision. If my son had survived (which we were told was very unlikely) he would have needed multiple surgeries. I'm glad he had no suffering.

There is no right decision. If you get an outcome which means that there are decisions to be made you will work out what's right for you. I only knew once we had all the information.

I'm in Wales and have just been told that it should be free here so will ask the midwife on Monday but like you say, it's useful if there's no identified problem, my problem is still showing on the scan which i think is why they are telling me to do an amnio. I might ask if I can do NIPT but because my amnio is in 10 days, I reckon they will say no point.

I can sense the agonisation you went through. I am having similar feelings too, but also feeling like I can't risk my family's future over this. I agree, I think there's a side to DS that no one talks about.

It's heart breaking but you're right xxx

Hi @Zanina - good to see an update although frustrating that you have more waiting. I found the waiting and the unknown unbearable (and we were lucky that things moved quite quickly).

I was also reassured about CVS/Amino. You can read a lot about miscarriage rates but I was told by a couple of different Drs that this is also linked to another issue vs. being caused solely by the Amino. I'm also someone who needed information so don't think I would have been satisfied by NIPT.

We were told the same about possible genetic disorders and we still got that feedback at the last scan. There is very little research available that is conclusive I. proving a link between a raised NT and genetic disorders but the question remains.

At the FMU I was referred to, they explained everything as a series of steps. They start with a worst case scenario and work their way back to unravel it although it doesn't make it easier when you're going through it. To be really honest, I remember waiting to go to the hospital and crying to my husband that it felt like an alien was inside me and I couldn't do it anymore - and then I felt so ashamed for feeling that that I cried more. The waiting is hard, every hour feels like four! I went back to work after a week off and it helped me.

We're doing okay at the moment. I'm about 24 weeks now. We have another growth scan at 28 weeks but I have to say the experience has been somewhat traumatic. I still feel like I'm waiting for something to go wrong and I'm quite disconnected from the pregnancy because I built up walls to protect myself. I find it very hard to talk about or say "I'm pregnant". It's been really tough.

Sending you good thoughts and hope you manage to get some answers. Keep messaging if I can help at all. I found a couple of people on another forum going through the same thing and it was so helpful when I felt like I was drowning.

@MilkshakeandChips5 hi sorry about the late reply, my emotions have been up and down.

I'll be honest I haven't even looked at miscarriage rates etc as I see myself losing this baby either way. I'm nervous about the needle going in but have to do it.

I can understand your feelings of wanting it out. I have felt like that too but then it hits you what's at stake.

The consultant did explain that they work backwards but I couldn't see any positives as such. My midwife explained that if the fluid resolves that's a good sign? If the amnio comes back clear that's a massive positive? Whereas I was thinking I'm doomed either way. I honestly don't know but I think it's really good that you are carrying on despite the difficulty of it. I've read that if its looking good by 24 weeks then it improves the chances of a positive outcome x

Thank you so much, you have helped me in this dark time xxx

The wait is so difficult. My head hurts. My heart hurts. I'm scared to have the amnio yet desperate to have it. At times I'm convinced it will come back clear, at times I want it to come back with t21 So it makes the decision straight forward. But having a termination is frightening. I don't want to live that nightmare

I’m so sorry you are going through this @Zanina. I think you have posted on some old threads I was on also. I just wanted to say I can completely understand how you are feeling and that is how I felt in the wait for the amnio. Just try and get through each day as best you can, or even each hour. It is such a tough time but you will get through it whatever the outcome, wishing you all the best xxx

@notinthestarsigns thank you so much. I'm sorry it's taken me ages to reply. I took your advice and just tried to get through each day. I had my amnio on Monday so waiting for the results now. They could still see the fluid/ cystic hygroma but it's shrunk

Hi, I am so sorry you are going through this. It's the worst thing to go through.
Last year our baby had an NT of 4.7mm and appearances of a cystic hygroma. Went through fetal medicine unit in Cardiff (I see you are in Wales) and had a CVS. All investigations normal and after 20 weeks told to try to enjoy the rest of the pregnancy as we were 99.9% likely to have a healthy baby, despite the initial poor prognosis.
He arrived 2.5 weeks ago and so far seems perfectly fine. I feel incredibly fortunate.
Just wanted to say there are positive outcomes out there. I found taking it a day at a time, a result at a time, useful for coping. I found it really hard to connect with the pregnancy. Just know that whatever the outcome you are not alone. I found Mumsnet invaluable. I hope you get some answers soon 💐 x

Hi op, I'm new here but I'm going through the exact same with my pregnancy.. I'm 12 5days and had a nt of 6.2 mm fluid and possible cystic hygroma on the neck, head and abdomen. I had a cvs yesterday and now the wait 😩 I'm was just seeing if their had been any updates on your test results yet? It's an awful wait and it makes it so hard to feel positive I am also going from tears to nothing to just reading do many facts and figures my heads feels like it will explode! I wish you all the best and hope for a positive outcome for us both ❤️

Hi @Usplusone thank you for sharing your story, it's really gives me hope that this could turn out to be nothing! Yep I'm actually in Newport but being seen in Bristol as we needed to be seen quickly. Thank you for sharing your coping strategy, I will do the same as it makes this situation bit more bearable. I'm so pleased for you, I hope you are finding these newborn days ok, they are hard but you eventually forget about them!

Hi @Loniann I'm so sorry you are having to go through this as well :( you're not alone x the first days of this journey are absolute hell. But after reading lots of positive stories, seeing the nt reduce and just getting a better understanding I feel I have calmed down a lot. I hope you can find a medium ground which will help you cope. I spoke to the ARC once (spoke to Sally) and she was quite good. Felt good to be able to speak and ask questions freely.

I got the initial / PCR results yesterday. I went to see the consultant in Newport for the first time but was also expecting to hear the results so the long wait was very nerve wracking. But, it came back clear for t13,18 and 21! The absolute relief i felt when she told me, it's like I could breathe!
I do now have to wait about two weeks for the next results but trying to remain hopeful.

I hope you get all clear, please do come back and let me/ us know. Will keep this thread going so it may help others

Hello zanina, I'm do happy you have received some good news! I'll be praying you get the rest of the results clear too!

It's very strange since having the test I feel a little less worried... Not sure if that's because I am so scared of needles so having the procedure was very worrying for me too. Have they mentioned any other possible structural problems that may have caused the cystic hygromas to you? I keep researching those as if the tests do come back clear then that will be something that needs addressing too but I'm really glad you have had good news ❤️ thankyou for you're reply I will hopefully have my first 3 results mid week. X

Hi @Loniann how are you doing? Have you had your OFF results? Im sorry I haven't replied there's just been too much going on, still is which isn't good things but it's helped me take my mind off the wait. In answer to your question, they can't see any structural issues that may have caused it. So I have been in hope that it might just be ok. Apparently I'm going to get a call back today with the rest of the results. I wasn't going to call them, my husband asked me to follow it up but the receptionist wasn't allowed to tell me. So now I know they will call I am nervous

That's meant to say PCR not OFF sorry xx

Hi everyone hope you are well. I got the full array results and they came back normal :) I'm so relieved. Still the echo and anomaly scan to go but for now it's ok.