2 soft markers at anomaly scan - scared and would like reassurance please!!

[minstrel75]

Has anyone had any experience of this and is able to help me try and calm down as I am freaking out big time!

I had my 20w NHS scan last week and there were no structural abnormalities but the sonographer found 2 choroid plexus cysts. She didn't seem too concerned and said that they normally resolve but as a precaution (I am 42 and have had a previous downs pregnancy) she would refer me for another scan with the consultant in a couple of weeks.

I decided in the meantime to go to the FMC for another scan to get some reassurance and this has just made things worse. They found another soft marker for chromosomal issues (a sandal toe separation of big and second toe). The Dr didn't propose an amnio at this stage because of the risks to the baby but suggested i come back at 32wks and have one then.

I'm so confused. If I find out at 32wks that there is a problem what are we supposed to do with that information at that stage? And how am I supposed to wait another 11wks as I get bigger and more attached to my baby girl (as do my two children who are sooo excited). But should I have an amnio when the risks of miscarriage are 1/100 when my 12wk scan gave me a risk of 1/636 (and my NHS results were even better) which hasn't been changed by the presence of the soft markers???

Sorry for rambling post but any experiences that you have had would be gratefully received as I'm just so scared, confused and terrified of what might happen next.

Thank you.

oh. why can't you have an amnio at 21 weeks? I thought you could.

Well - do you know what you would do if your baby girl does have down's syndrome? I think if you would like to terminate, then I would go for the amnio now. If you wouldn't, then I would hold off.

If you're not sure what you would do, then I would suggest speaking to ARC (antenatal results and choices), the down syndrome association and any parents of children with down's syndrome that you can lay your hands on.

I had a high risk at the 12 week scan followed by a cardiac defect at 20 weeks plus soft markers at both so we chose to assume our baby did have down's just to get our heads in the right place. That's what worked for us but everyone is different obviously.

Our little boy was born 3 months ago and he does have down's but so far has been exactly the same as our other babies except more sleepy for the first month. He's totally scrummy!

Thanks for replying MrsGrotbag. I can have the amnio at 21wks but its just the risk of miscarriage is higher than my risk of downs and so it makes the decision of whether to go for it less straightforward. I think that is why the dr suggested waiting until 32wks so that if the amnio did bring on labour then the baby would still have more chance of surviving.

You're right I guess, the key issue is what we would want to do if we found out our baby did have downs or another chromosomal problem. This is where I'm getting more confused. Having already terminated a T21 pregnancy last year you'd think it would be a clear (?!) decision but being much further along this time and feeling our little girl's movements and our 2 children being so excited about a baby sister just makes it so hard. We just need to try and weigh up all the issues its just my head is so all over the place at the moment. Its good to hear how you feel having just had a downs baby yourself though so thank you.

Hi,

I am in a slightly similar situation to you in that CP cysts were found at my anomoly scan a few weeks ago. This was also following a downs pregnancy. Like you structurally all else was ok. I found this document, (hope the link works its the first time i've done a link) which suggests that the cysts and the sandal gap even if found together do not need to be reported to the patient.

Sorry this is a bit rushed, will post again tomorrow, thought I would send this as it has got a bit of info in.

www.screeningservices.org.uk/asw/professional/policy/marker_guidance.pdf

Are there any questions that you have that I may be able to help with, either from personal experience or from my own research?

Nothing is straightforward i know plus I imagine that you are thinking that if you keep this one, then how will that make you feel for terminating the other one etc etc?

I'm so sorry - pregnancy anxiety is just awful, whatever the reason. x

also -please do pm me if you would like to.

Eavers - thanks for sending that link through. The doc did make me feel a bit better though the problem with the Internet is that once you start searching, for every positive thing, there is always something else which then sends you into a panic. What did your sonographer say about the cpcs given your previous pregnancy - were they concerned about them or have they just said they will resolve themselves?

Thanks mrsgrotbag - did you always know you would continue a pregnancy if it was possibly downs or did you change your mind as you went along?

Had a bad night last night and am now feeling convinced that there is a problem with my baby. Just can't believe we are having to go through this again!!

minstrel - very sound advice given above. It DOES all boil down to what you would do with the results from an amnio realy. Just wanted to send out and best wishes for whatever you decide to do. What a rollercoaster pregnancy is. I'm 43 and terminated 3 weeks ago for DS. I'm ttc again and feel for you so much. Please keep us informed - so much support and love here on this forum xxxxxxx

X'd posts

Thanks misty. Big hugs to you too as I know exactly how you feel and the anxiety that you feel ttc again after a termination. I think our age also makes the whole pregnancy thing such a minefield and once you experience one pregnancy 'going wrong' it can take the joy out of the whole thing. I feel like this is my last chance at another baby as I just don't think that I can go through it third time and I know my dh definitely wouldn't want to. Good luck for positive news in the coming months.

OP, I really feel for you; I've been there. It's very hard to get your head round soft markers, isn't it? At my 20 week scan my dd was diagnosed with talipes, which is a soft marker for lots of other conditions including dwarfism and Edwards syndrome. The FMU said it no longer offered leaflets or counselling; all it could offer was termination. I was told I should now consider myself at very high risk of serious foetal abnormality, but they refused to give me any kind of ballpark statistics: I was desperately saying, "1 in 2? 1 in 20? 1 in 200?" but they absolutely refused to be drawn.

Two things helped. One was brilliant advice from people on MN, including a lovely geneticist. The other was going to see another obstetrician, who was at the hospital I worked in at the time. He gave me odds - 1 in 10, according to the research, but then had a lovely, reassuring chat with me, in which he basically said, the research is old and doesn't tell us anything about you, your scans look good, and in any case you're 40 and the implications of terminating are pretty grim. My advice is to just forget about it and see what happens.

That approach may not have suited everyone, but it worked for me. My dd turned out to have no genetic condition - not even talipes. What I didn't know at the time - and nobody at the FMU told me - is that some babies (especially long ones) bend their feet round as they get squashed in the womb, and there is no way of telling from a scan whether this is genetic or just postural. In other words, I was never at increased risk. This possibility was never explained to me; all the FMU ever did was offer me an abortion.

I'm not telling you all this to imply your situation is the same, or to suggest you should just relax and not worry. It' s really just to empathise with how hard it is to take any cue from 'soft markers' about what you should do next. I guess it's down to your gut feelings about which outcome would be least acceptable. I was told that amnio would only pick up a minority of the possible conditions anyway, so decided on that basis not to proceed. This may not be the same for you, but do check with your doctor.

Personally I wouldn't terminate on the basis of a soft marker, but then I was 40 and had been trying to get pregnant for years; this felt like my last chance, and the stakes were very high. Had I been younger - I don't know. Very, very best of luck to you and do keep posting.

misty - I'm so sorry. All best to you.

Oh, and minstrel: I've just reread my post and want to be clear that 'My advice is to just forget about it...' is what the obstetrician said to me, NOT what I'm saying to you.

Thank you xx we've obviously been having the same converstaions in our houses! I said "not 3 times, OK?" and he was more than happy to agree to that. And yes - IF it i fall pg again, i know the whole time is going to be one long awful stress ..... But we do it anyway dont we? Everything crossed for you petal. xx

hi minstrel. I am not in your situation at present but am pregnant and have previously terminated (at 25/6 weeks for hrhs in 07) and again for T21 at 13 weeks last october. I am now almost 15 weeks pregnant and have been thinking a lot about how and what i should test this baby for and how far it is important for me to test - ie do i want invasive testing or not given the risks.

I have had my nuchal and am awaiting result but indications are good for that. Then i have opted to have a detailed scan (next week) and a cardiac scan as well as the normal anomaly scan.

Obviously we all have our own decision to make regarding whether we would continue the pregnancy or not but I have come to the conclusion that if i have these scans and nothing untoward comes up (bowel obstruction or cardiac defect etc) then the baby should be healthy as possible whether or not they have T21. AS mrs grotbag says there would then be the issue of the decision i made in october but I know my main fears of T21 are of having a baby with a lot of health difficulties and the trauma of getting them through that.

That's not an ideal situation obviously but (for my mental health and stress levels) I find it easier to set parameters for my decision and decide what my worst case scenario is and I know that for me it is having a child who has to have a lot of horrendous surgeries. Like you i don't think I can do this again.

For what it's worth my late termination was incredibly distressing but my children who knew i was pregnant were fine although a bit confused. As a family, almost four years on it is a sad but distant memory. Eavers, thanks for posting that link, I am on the lookout for soft markers for next weeks scan. x

Hi manitz. Like you I'm scared of the having a baby that has severe health problems and potentially a poor outcome and the impact that will have on our two children. Since the scan yesterday, one of the things that has upset me most has been thinking of the upset that this could cause my children and especially my daughter who is sooo excited about having a baby sister so it's good to hear that your children coped with it ok.

I'm also petrified about the idea of a late termination and exactly what that involves if that is the route that we go down. I've been feeling really angry at myself about pushing my luck and trying to have another baby at 42 (and i really was the driving force persuading my dh) when this outcome was always a possibility and now it's potentially going to have such a devastating impact on the whole family.

Good luck with you nt results and scans coming up. Will be keeping everything crossed for you x

Hi Minstrel. I also feel selfish that i want a fourth baby but my husband had to be persuaded and if something goes wrong then it will impact on everybody. I just think I'm greedy and it will be my fault.

There is no point beating yourself up about it. Are you going to have the scan in a couple of weeks? can they bring it forward at all? It seems like a long wait. Then you could make a more informed decision about the amnio.
Good luck to you also. xx

Minstrel

To answer to your question about what was said about the CPCs - I had my NHS anomoly scan and the doctor (given my previous history I have been scanned by a specialist doctor at my hospital) didn't mention that any had been found, the only thing she did tell me about was a slightly high level of amniotic fluid level, which can sometimes be an indicator of problems.
When I got home and read my scan report it showed that the femur bones measured on the 3rd centile. I really started panicking and googling then as I knew this was a soft marker for downs.
Decided, like you, to go to the FMC where they did not think there was a particular problem with the fluid and the femurs seemed to be growing fine by then but they found the CP cysts. I was told that at the FMC that the cysts were not a problem in themselves and they will disapear but they can sometimes be a marker for Edwards or Pataus syndrome. I was told they are found in 1- 2% of 'normal' pregnancies and 99% of babies with Edwards or Patus they find other issues on the scans, don't know whether they meant other soft markers or major structural problems.

I had another scan with the NHS doctor to check on the fluid levels and she said that she had noticed the CPCs but it is NHS policy not to tell patients if found in isolation as it causes unecessary worries. Which is what the document in the link says. I asked if they even do further scans to check on the cysts, they don't because the don't cause problems in themselves.

The FMC told me to go back for a rescan with another doctor and see Prof Nicoliades, have they asked you to do this as well? I did this 2 weeks ago and nothing new came up really, I was told that my risk level was the same as at was after the Nuchal scan (at the FMC) 1:1300 for downs and 1:780 for Edwards. The NHS risk for Downs was 1:480 as they look at less things

We decided not to risk the amnio and hope for the best, I have tried to forget about it all and put it to the back of my mind but it is difficult, when I thought there was a problem with the femurs I was really scared and was thinking about having the amnio. I was kicking myself for not having the CVS at 12 weeks and knowing for sure. But we didn't and am just going to have to wait it out.

It is so difficult to know what to do when they find soft markers, its all so vague, you're right the internet does have a lot of contradictory things on there. Is there any way you can ask for an earlier appointment with the consultant? What did they say about the sandal gap at the FMC?

You did have good results from the nuchal scan, we were also balancing the risk of miscarriage from the amnio with the risk given at the 12 wk scan we decided not to go ahead but have a few months of worry ahead.

take care
Eavers xx

My next NHS scan with the consultant is next Tues so actually not that long to wait although it seems like forever at this point.

The FMC just said they would advise going back at 32wks for an amnio with Prod Nicolaides because even though the probability is that the 'prognosis is excellent' the CPCs, sandal gap and my age combined with my medium risks indicate that there could be a chromosome problem. I find it hard to see the point in waiting that long and then finding out because if there is a problem, there is no way of terminating at that stage (and I'm really annoyed that we didn't question the dr harder on this but I think we were in such shock by that point). Like you Eavers, FMC have left my risks at 1/636 even after finding the soft markers (weirdly my NHS risks were better at 1/4900) but it just feels like things have got a lot bleaker.

This is a bit of a personal question Eavers and so obviously please don't answer if you don't feel comfortable but do you feel differently about the possibility of having a downs baby this time compared to your last pregnancy?

xx

Hi again,

I think it's all really really difficult. After DC2 was born, DH said no more kids but I had always thought that we would have 3 or 4 kids from previous discussions so I was absolutely gutted and felt like the carpet had been whipped out from underneath me. I didn't respond when he said that and never said anything to him but when friends asked me if I wanted any more in front of him, I was honest and just said yes I would love to and then changed the subject.

DH then turned round months later and said he couldn't think of a good reason NOT to have another one, though he wouldn't have any more if it was up to him but knowing I wanted more, he was ok with it. He didn't seem 100% behind it by any means but we didn't talk about it again.

I then had 2 miscarriages, one at 11 weeks and one at 5. So by the next pregnancy, the stakes felt much higher to me and I was pretty sure DH wouldn't go again if we miscarried etc.

I have always said that I wouldn't terminate for downs and DH knew that but I would always consider it if it was something life threatening / no quality of life etc

so, when we were given the 1 in 5 risk i just knew in my heart of hearts that baby had DS and instantly felt a calm. DH refused to consider baby had DS and kept going on about the stats being 'in our favour'.

A week or so later, I had a wobble about whether or not the baby would be ok and if i was sentencing him/her to a dreadful life and went on a mission of great research over the next 3-4 days. By the end of it I was back in my place of calm and knew i couldn't terminate with the info that i'd been given.

I kept saying to DH that I thought baby DID have DS in a way to prepare him i think because we weren't going to go for invasive testing. DH had said that he would absolutely terminate for downs if it was up to him, so i felt pretty awful about everything by this stage. I knew that I couldn't terminate though so that was the end of it as far as I was concerned.

Then with the 20 week scan the next day, again I warned DH that they may find abnormalities and in particular to do with the heart and that if there was a cardiac defect that would almost certainly mean that baby had DS but if all was clear, then we were back to the stats again.

I went to the scan on my own as he was looking after the other two DC and they found a cardiac defect.

I got home and told him and he felt very crushed and had to go off by himself for a while.

I felt so saddened and responsible for his feelings and what he was projecting was going to be the effect on our kids but I still couldn't justify terminating and decided to go with my gut.

So far my gut feeling has been absolutely correct and there has been no negative effect on the kids at all. Early days I know but we have a 3 month old baby who has no cardiac symptoms at all other than looking slightly flushed and is, to me, just the same as the other two. He does things all the time that make me think 'oh yes I remember this bit' and he looks so like my eldest that it's like being able to go back in time and see her as a baby again, which has been just fantastic.

Just a point on termination at 32 weeks. I was told my a senior consultant at kings college hospital that if a chromosomal abnormality is found at 32 weeks you can terminate. I was told this as I am considering amnio at 32 weeks as bilateral talipes were found on my baby and this is a soft marker for edwards and patau. Hope this helps xx

Thanks Leo for letting me know what your consultant said. I think I am also more worried about how it would feel emotionally to have to consider potentially terminating at that stage should a problem come up.

I hope you are feeling OK at the moment with the difficult decision you are wrestling with. Just to let you know a story from a friend whose son was born with congenital talipes on one foot and is absolutely fine apart from a slight inward turn on the affected foot. The talipes wasn't picked up at her scan (which was about 11 years ago) but if it had been she would have had to cope with the same worries that we are going through for no good reason. Sometimes I really feel like the technological advancement in scanning isn't always to our benefit.

MrsGrotBag - thanks for explaining your story. I'm so pleased that things are going well for you and that your little one has been such a delight. At the moment we are trying to take one step at a time and just think about the scan tomorrow. Although my DH did come home from work a couple of days ago and say that he was preparing for life with a DS baby which was a bit of a surprise as I though that he was more resolved than me than me that termination would be the route to go down.

Just also wanted to say that I just had a chat with a lovely lady at the Antenatal Results and Choices helpline and she said new NHS guidance says that the term soft markers shouldn't now be used but replaced with the less loaded normal variants and that CPCs are expected to even be mentioned any more. She actually helped me feel a tiny bit more positive than I have at any point in the last week so I would definitely recommend them for anyone going this or something similar.

I feel exactly the same but at 20 weeks already a miscarriage or termination would end in delivering the baby anyway (I believe)...so I feel like the outcome will be the same if i terminated now or at 32 weeks...

And yes i feel the same technology really is scaring people a lot of the time unnecessarily, I know a lot of people who are refusing screening in their second pregnancies...adopting the method what will be will be...

Minstrel and Leo

Sending all my best thoughts and love out to you both. You for tomorrow, minstrel, and to you, Leo, for your big decision. You echo'd something i said when i was deciding on CVS - technology is a wonderful window into the unknown sometimes - but they still havnt invented a magic wand to deal with the fall out. Difficult to turn your back on it - but leaves us having to make impossibly hard decisions - Good Luck to you both lovies xx

Thanks misty .. i will let you know what i decide and what the outcomes are xx

O btw if anyone wants to know my situation on full.. i have posted a thread..... www.mumsnet.com/Talk/antenatal_tests_choices/1210251-Amnio-or-no-Amnio

Thanks Misty for the good wishes. Feeling a bit better following chat with ARC but then I worry that its better to be pessimistic so the fall isn't quite so great!

Will post with any more news/decisions.
xx