Talipes with choroid plexus cyst! is it the end?

[AnnamariaHun]

so following my recent thread under "positional talipes" just wanted to update those who are interested
quick background
on our 20wk scan we were told our ds2 (after a healthy ds1) has positional talipes and so we were offered amnio howevere we were told there is a very small risk for any chromosomal defect as they usualy look for more than one soft markers before they start to worry.
we declined the amnio.
on friday we had a 24 wk follow up scan now in our local hospital as the birmingham woman hospital referred us back as they said talipes doesn't need to be monitored.
The scan only took 5 min and she only had a very brief look at the foot and said it's still turned in and also checked heart and maybe some other organs and said baby was growing ok and everything else seemed fine.
This was then followed by an appointmem with the consultant who couldn't answer any of our question about talipes and down syndrome or any other chromosomal issue and just said that we are still pretty low risk as talipes is not a big deal. initialy at 14 wks we were told low risk for down was 1:9900 ( im 29 )
we came on holiday abroad and decided to have a 4D scan which revealed a choroid plexus cyst which is a water filled cyst 15mmx7mm on the left side of the head.
we were told that this usualy disappears and it doesn't cause any issue.
She also confirmed that talipes doesn't look positional as the whole heel bone seems to be turned in so it looks like a proper bone structure issue which is a bit more serious but still treatable.
we weren't too worried until we looked on the internet which said that talipes and choroid plexus cyst are both soft markers for edwards syndrome (which in most case is fatal for the baby and hardly ever survives)
i called my mw back home who half an hr later called us back with another referral to the birmingham woman hospital for tuesday morning.
We are in pieces and thinking the worst and both of us have already had a little cry.
im now 26wks so i know that termination is not an option but thinking about getting the amnio done as i feel that the worry will cause me and my baby health issues and also feel that we need to be able prepare ourselves if it really is edwards.
i know that nothing is certain yet but i can't help thinking that our ended!

Sorry about going on so much just wanted to know if anybody has been in the same position or any advice

Thank you

I am so sorry you're going through this anna have you tried posting on the antenatal tests board to see if anyone there has a similar experience?

Here:

www.mumsnet.com/Talk/antenatal_tests_choices

Hi - I was in a similar situation (two soft markers for a chromosonal issue, in our case it was talipes and hydronephrosis), and went ahead and had the amnio. For me, I just wanted to know. The hospital had an extremely low miscarriage rate after amnio and I wanted to know what we were dealing with. We would've kept a DS baby but I didn't want to be worrying throughout the pregnancy.

FWIW you can terminate at any point in the pregnancy - I can't remember the exact wording - okay here we go

there is no upper limit on gestational time if there is risk to the mother's life, risk of grave, permanent injury to the mother's physical/mental health (allowing for reasonably foreseeable circumstances), or substantial risk that, if the child were born, it would suffer such physical or mental abnormalities as to be seriously handicapped. Such TOPs must be conducted in an NHS hospital

The amnio came back clear for chromosonal issues, which meant I could spend the pregnancy researching talipes and finding the best consultant.

anna to try and gove you some reassurance, Edwards is usually a very 'obvious' condition to spot and can even be detected earlier on a scan than 20 weeks. The usual markers are overlapping fingers, serious heart defects, small-for dates, to name only a few. I know this because I had a similar 'panic' after my dd1 had talipes, one cpc, and bilateral hydrophrenosis detected on a follow-up 26 weeks scan, cue the consultant telling me that edwards was usually very obvious by 20 weeks. I did have an amnio, that actually didn't reassure as there was a culture failure, but can remember how worrying that time was (dd1 was born perfectly healthy).

Anna I had just read your previous thread and was planning to post saying that ds had positional talipes at birth and was fine within a few weeks when I saw you'd moved on.

I'm so sorry you're going through this stress. I think you need to take the advice of those with experience here and get more info from your consultant.

I really hope that you get good news and you can enjoy the rest of your pg.

Oh, poor you, I know exactly how you are feeling - our 20 week scan revealed 2 soft markers for a range of trisomies including Edward's, and the wait while the amnio results came through was just....well, you know, because we were in the fug of worry that you are in.

But I wish I had found out more about 'soft markers' - which seems to mean a completely unproven, potential slight link under investigation, and which seem to cause untold anguish. Soft markers are mainly extremely common and harmless factors in and of themselves.

Our amnio was clear. DS did indeed have talipes, and in fact additional orthopaedic complications, but is the happiest, most active, full of joy child you could hope for. It was very useful for us to have known about that in advance - I was able to research approaches to treatment, the options for Ponsetti treatment, was reassured that nothing about our newborn would be compromised byhaving talipes, and to find support sites (STEPS). It was also good not to be dealing with that information for the first time at birth.

What Diege says makes sense - my fingers are very much crossed that there are no serious complications for your baby. Thinking of you.

Anna, I'm sorry you are having this terrible worry - I read your original thread because my dd2 was born with position talipes due to being breech.

Obviously no-one can give you any real answers over the internet but I just wanted to reiterate what Diege said. It would be extremely unusual for Edwards syndrome only to become apparent so late in pregnancy & for the only signs of it to be soft markers. I had a baby who very likely had T18 (unfortunately we didn't get confirmation due to a lab error) - it was apparent by 8-9 weeks that she was unwell & by 12 weeks was severely growth restricted and had cardiac issues, we lost her at 14+ weeks.

Anna, really sorry that you are going through this horrible worry. I know exactly how you must be feeling as a few weeks ago I was going through the same thing. Our 20 wk scan showed up bilateral CPCs and also a sandal gap between the big and second toes on both feet. This was a bit of an odd combination as the first is a marker for Edwards and the second for downs. My age (42) and previous history (prior termination for T21) meant that I was convinced that something was wrong and the consultants told me that although my odds were still good my risks of a problem had increased and advised an amnio at 32wks. We went ahead and had the amnio straight away as I wouldn't have been able to last another 10 weeks of worry and stress without knowing and thankfully got the all clear.

Having read and heard more stories similar to mine, I agree with Blu that identification of soft markers cause such a lot of unnecessary worry when the link between them and chromosomal issues is still unproven. I would recommend calling Antenatal Results and Choices (you can find their no online) as I spoke to a lovely, knowledgeable lady there who made me feel a bit better when I was worried out of my mind.

Good luck with whatever you decide to do next and hope you get more positive news soon.

Thank you for all your kind words and helpful advice, it made us both feel a lot better but of course it's a vicous circle as every time i feel better about our baby's future, the thought of amnio seems selfish and pointless.
Only when im really down , it seems amnio is the only solution to make us feel a bit more in control again.
Anyway, does anyone know if there is any way of searching or comparing hospitals with better rates of miscarriage after amnio.
we were told that birmingham is quite good and certainly is better than our local one but of course we all want to know if there is any better out there or if it would be worth looking at going to a private clinic?

It sounds as if you might live near Birmingham? If you are in London the Harris Birthright unit at Kings is very good, as it is led by Prof Nicolaides - leader in the field - who also runs a private Harley St clinic.

But any teaching hospital should be good.

Hi there,
No experience of talipes, but at our 21 week scan DD had very large bilateral choroid plexus cysts.
We were obviously very worried, but were told to return after two weeks for another scan. We did the worst thing, and looked it up on the internet, and were very concerned.
However, at the next scan the cysts had completely disappeared. The sonographer said that as scanning technology develops, more and more is seen, but that is not always a good thing, as in most cases thinds just resolve themselves.
DD is now a strong healthy ten year old.
I hope everything is ok.

hi everyone
today we've been to the Birmingham woman hospital where they scanned us again and found that THERE IS NO CYST in little one's head and that woman abroad has made several errors in her comments and that we should not be worrying about Edward's at all as by now there are usually more markers found.
i asked about amnio and basically she said , she really doesn't recommend i get it done as what's the point in risking baby's life with premature labour when there is no reason to do it.(as she referred to our previous comments at 20wks that we were not getting it done then as we wouldn't not have had termination even if he has down syndrome)
i agree with her , there is no point in getting it done now.
We are sooooo relieved that after all he "only" has talipes and that our life can be normal after all and he seems to be healthy and to be honest the prospect of having down syndrome doesn't seem all that bad any more either (even though there is a very small chance of that).
So thanks everyone again and I'll try and enjoy the rest of my pregnancy (as much as possible with such a worrying head)

Good luck to you all

AAAARGH to scans and soft markers, and hooray to the end of your worries.

Many many MN-ers have had children with talipes, you'll get loads of support over that and it is completely correctable with ever improving methods.

Glad things are calmer.

I'm glad you've had some reassuring news!

I am also expecting a baby with talipes, but our sonographer couldn't stress enough that talipes alone is not a marker for any other conditions.

Enjoy the rest of your pregnancy.

re the talipes - nothing definite can be decided before your baby is born, but it's worth doing a little research about the range of options that may be appropriate, find out which consultants at which hospitals close to you are qualified to use the Ponseti technique, and join the STEPS talkboard.

If your baby's talipes is a suitable case for Ponseti treatment I think it usually needs to start asap after birth so it's as well to be prepared and know where you can go. We spoke to our orthopaedic consultant before DS was born, but she basically said 'can't know for sure what will be needed untilhe is born'.

Thanks Blu for all your advice, i've just sent my registration to the Step charity and will look who might deal with us in the hospital

Thanks again

Hi ladies, I know this thread is really old but I wanted to post a comment here as it helped me so much while I was waiting for my amnio results.
My baby girl also has one cpc and unilateral talipes so Dr suggested the amnio. I barely slept for the past few days but consultant just called me with the amnio results and she’s fine!
You can’t imagine how much this post helped me as it was the only place where I found somebody with the same findings as me

Hi how big was the very large cyst, iv had a scan with a large cyst and I’m beyond with worry