Two soft markers at 20 weeks - refuse further investigation?

[Cookserella]

Hi all.

My sonographer flagged two soft markers (choroid plexus cysts and dilated cisterna magna) at my 20 week scan. The blood test I had at 12 weeks showed low chance of the chromosomal conditions, but I've now been referred for a foetal MRI and then suggested I may need an amniocentesis down the line.

I wondered what people's experiences of similar situations were? We are wondering whether we might decline any further investigations at this stage - from what I read these two 'soft markers' could just resolve themselves later in the pregnancy and are not in and of themselves a problem. Everything else on the anatomy scan looked totally normal.

I am finding the investigations stressful and they won't change the outcome of the pregnancy for us as we wouldn't terminate anyway.

I'd love to hear from anyone who had the same markers flagged and what the eventual outcome for you and your baby was.

Thanks so much.

From your own point of view it depends how your brain works. Would you rather spend the next 20 weeks with certain moderate worry, or with a chance of either no worry or worse worry? We're all different.

From your baby's point of view, it depends whether early diagnosis would affect outcomes in this scenario. Eg is there something they would need to do in utero or shortly after birth, and your child could benefit from your medical team knowing?

@Pachycephalosaurus Thanks for your reply - my concern is that there's no 'no worry' option. Amniocentesis is the only diagnostic test but carries its own risks, so I'm not sure I'd do it anyway. All other tests would just show 'high chance' or 'low chance' of different things, so not conclusive and I'd probably worry anyway!

I don't think, even if we knew 100% that there was something wrong, there would be anything the medics would do differently, but that's something worth exploring.

Hi, I had some abnormalities arise from a 30 week private scan and I went on to have amniocentesis and a fetal MRI. The amniocentesis showed that baby didn’t have any of the chromosomal conditions and the fetal MRI was able to fully check baby over and showed that the abnormality was beginning to return to a “normal” measurement. It was a really worrying time but the tests helped ease our worries and we knew baby was being well taken care of

Could you do the NIPT?

Okay. Well I would check that first, as obviously that might change your decision re the amnio if you're weighing up risk of amnio Vs risk of not getting a diagnosis and providing appropriate care.

But assuming there is nothing they can do so they don't 'need' to know... then if I was in your shoes I would take any tests available which don't have risk attached. I would decline the amnio if knowing won't make any difference to your decisions or to medical intervention. I would prefer go ahead with the MRI if it might shed any light on the situation. But this is based on my own personal experiences with pregnancies, and my good mental health (which I know can handle months of intense pregnant worry). Other people with different experiences would make a different choice. I think it's very personal.

Sorry that's not particularly helpful. Does the father have any thoughts (assuming you are together and actually want to consider his thoughts)?

If you know for sure you wouldn't terminate for medical reasons, then personally I wouldn't go through with further testing. Some testing can be quite invasive for the mother.

There's a very slim chance that they'd identify an issue that they could treat in utero (so not a termination nor doing nothing), which is the only option you're closing off. But that sort of thing is very rare I believe. You could ask your doctor if that's a possible scenario.

Yes, although the NHS wouldn't pay so I'd have to go private (and it's expensive). Also it is a good indicator but again, it's not diagnostic so wouldn't give me any conclusive answer either way.

No that is helpful, I appreciate you taking the time to reply.

My husband is of a similar mind to me and is concerned that I am finding the constant back and forth to the hospital stressful in itself (we also have other small children so have to arrange childcare each time, which is an added burden). Every appointment so far has essentially said "this could be nothing or it might be something, but we can't know at the moment".

That said, perhaps doing the MRI is a good next step as it's a) free on the NHS and b) non-invasive. I am not inclined to pay lots of money for tests or do anything that has an associated risk of miscarriage.

An MRI is not technically invasive but is not a relaxing experience, as I understand. When I was PG with my second, I had a lot of "it might be something, we aren't sure" about his heart. Like you, i found the constant back and forth to hospital quite upsetting, and it was often framed as an urgent summons. I sometimes had no choice but to take my 3yo dd with me. (As it happened, his heart was totally fine in the end, thank goodness.)

In my case, I had decided that I probably would opt for a TFMR if my baby looked to have a terminal heart condition (which is what they'd been speculating). But if I'd decided that I wouldn't have a termination, no way would I have gone for any further testing, and mine were just endless ultrasounds. They said there are rare circumstances where they could operate on the heart in utero, but just the thought of that made me feel faint, and it's so rare.

I had an amniocentesis and it was uncomfortable but fairly straightforward. I wasn't concerned about the miscarriage risk as the doctor carrying it out was highly experienced (one of the most experienced in the country) and I think that makes a big difference to the risk. And for me I wanted to know for sure and I would have opted for a termination if it was a positive diagnosis, so in that sense a miscarriage wouldn't have been the worst outcome in our case.

If you would never consider termination then I don't see the point in having any further tests however. I am the opposite and wanted to know as it would have made a difference to whether I would proceed (in fact it did result in a diagnosis, and I had a tfmr, which was the right decision for me).

I'd think about what happens after birth. if there is a problem with baby's health, is it something that would land them in hospital for months? we didn't have other kids but I wish I'd known when I went in at 2 am to give birth that I would be home for 3 months. obv with kids your issues are different but I'd think about are you going to need lots more help wit your kids if there an issue or is would you still be home on normal timescales? will they need to deliver early and is this something that affects how you organise life? so I'd agree to all NON invasive tests and nothing that puts baby at risk x

Ask what an amnio would actually check for. There are many many rare disorders that might not get picked up if only standard microarray on the amnio checking for common issues.
So a "clear"amnio is not 100% guarantee of no underlying issue. More scans can check if any physical isdue eg to be prepared at birth .

DD had several soft markers. I took her for a private detailed scan and she was reassured. DGS is now travelling the world with the RN.

I think if even with worst case scenario it would not change your path, then there is no point in all the additional tests and stress.
If it would even in the slightest change your path or arm you with knowledge you need to progress, then there is reason to go ahead with additional tests.
The amnio doesn't pick up all condition either so its worth considering that as well.

I didn't have the same issues raised but had an issue found at my 20 week scan, which ultimately lead to further tests, MRIs and amnio. The worst case scenario for my issue raised was incompatible with life and potentially not reaching end of pregnancy. We eventually had a TFMR due to worst case scenario being the only likely outcome for our situation. I was glad I'd dealt with the stress and constant back and forth to the hospital to get a full picture of what what happening to our baby.

The risk of miscarriage is very low, if that is whats putting you off having an amino.

Thanks, and I'm so sorry for your loss.

I had abnormalities picked up at the 20 week scan that they said could be an isolated issue or could be part of a syndrome.

I declined all invasive testing but I was happy for all the extra scans and blood tests they wanted to do. I don't think fetal mri was an option in those days but he had an mri scan after he was born.

We were referred to a the team for the medical condition we knew he had while I was still pregnant. It was a bit surreal being introduced to these people, including an orthodontist, when I was still pregnant but I felt very well cared for by them and the consultant at fetal medicine. My obstetric consultant kept sighing and tutting at me and I'm sure she thought I was extremely silly for declining amniocentisis.

Ds4 is 13 now and he has his problems but he is an absolute joy.

We had 2 different soft markers - basically possible unproven links to conditions.

I did have amnio , because we were in one of the top NHS foetal medicine centres in the country and the chance of them doing it wrong was tiny.

The all clear gave me such huge relief. They had also diagnosed talipes (through scan) and I was very glad to have known about that in advance and not in the first joy of meeting my baby.

I definitely start with the MRI and get the NIPT (not diagnostic but combined with the MRI may give you some certainty either way).

• It may be you've got nothing to worry about,
• It maybe there is something and the tests will make no difference
• It may be that's having a pre natal diagnosis means your baby is delivered in a specialist unit and can get treatment that may improve their chances.
• It may be that you know you are going to stay in hospital for a while after birth so can make a arrangements for your at the children
• It may be that sadly your baby can't survive, and if you continue with the pregnancy then you've time to consider things such as preparing the children, and dare I say it, if you're continuing to birth with a condition incompatible with life, whether your baby's life can be used to save other babies through organ donation.

There are some conditions that are truly incompatible with life, and there are others where they are labelled as such but can sometimes survive. There was a mum with a t18 baby about seven years ago on here who was hoping her baby would survive to birth (t18 being usually categories as incompatible with life). Baby is now a child and still alive (albeit with significant disabilities). Knowing in advance means you can better advocate for your child, research options etc.

The amino does have a very small risk of miscarriage but they needs to be balanced with the chance that it gives information which could save your childs life.

Best of luck with whatever you decide.

Thank you so much for this very considered answer, I think it aligns with where my thinking has been at today.

I can’t relate to this. If I’m offered a test, scan ANYTHING from the hospital whilst I was pregnant… I grabbed it with both handsn

I have totally been like you up until now, and with previous pregnancies, I've had every test and check-up and vaccine they'll throw at me.

My hesitation at the moment is that every time we go for another scan or another test they just say the same thing - these markers are present, they may resolve later in the pregnancy, they aren't in and of themselves a problem but they might indicate something more serious. I feel like I'm having tests but not really getting answers and I'm not sure I can go through endless rounds of the same thing!

The only thing that seems certain to give us an answer is the amnio and I'm worried about the risks so not sure whether it's worth it.

I would go for the scans to see if anything else picked up.

Plus any chance to see my baby - I took!