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Original poster

I can't bear this uncertainty [sad]

117 replies

emkana · 10/03/2006 14:02

Some of you might have come across my previous threads.

Basically, they found at the 20 week scan that the ventricles of my baby's brain are enlarged, also that the femur was too short. Since then I've had repeat scans and an amnio (which was clear). After the last scan I was referred to the regional fetal medicine unit. The consultant there scanned me today. He found the size of the ventricles of the brain to be around 15 mm, which is borderline between mild and severe enlargement and the biggest measurement we've had so far. He also found the measurements for femur and humerus too short for dates, and too much amniotic liquid. As a result he feels "anxious" (his words) that there is a genetic problem. But he hasn't come across a case quite like ours before, so he has no idea what it could be. According to him we could be looking at anything from no to very mild problems to severe handicap. Sad
We are now going to have an MRI scan, but while that will show if the structures of the brain are okay, it will still not tell us if the brain is actually working properly. He will also do another scan in two weeks' time to review. But he said we might not know until some time after birth if there is a problem and how severe it is.

I feel totally crushed and the uncertainty is driving me insane. Our baby could be fine, or he might be so ill that he won't even survive. Sad
I didn't expect this at all today, I was so hopeful that he would reassure us because the consultant at out local hospital had said that the length of the femur had no further implications after the clear amnio, and when they scanned here they didn't say anything about the amniotic fluid.

Part of me wants to believe that the consultant today just got it wrong, but as dh said that's silly because he's an expert and experienced and knows what he's doing.

I'm having so many black thoughts, from wishing I had never got pregnant in the first place... I remember the night of conception, dh wasn't in the mood but I made him do "it" so we could get pregnant... maybe I shouldn't have.
Then fearing that my life will never be the same again, all our dreams and plans out of the window, the lives of my two dd's altered forever...
god I can't go on it's just so bad, I want to feel hope but then I felt hopeful this morning and it all went wrong, so maybe I should just assume the worst. Sad
I don't know anything anymore.

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Amanda1 · 10/03/2006 16:32

Emkana, I'm so sorry to hear what you and your family are going through. I don't know if my friend can be much help but they have a son with rare genetic condition that, unfortunately, wasn't picked up until after the birth. Not that it would have changed their decision to have him but, rather, given them time to prepare for it. She has been involved with a lot of medical genetic type people and might know of someone, somewhere who will review things for you. She has been very proactive in getting a diagnosis and it was only after a year of saying her son had CP that they found out what it was. If you want to cat me your details I can email her and ask her for details of her contacts in genetics. Again, it may not be any help but it might be.

Thinking of you.

Twiglett · 10/03/2006 16:34

I am so sorry emkana .. my thoughts are with you

kateandfelicity · 10/03/2006 16:41

Emkana,

sadly no helpful advice but i am thinking of you in this difficult time - i wish you and your family the best of luck! :)

Original poster
emkana · 10/03/2006 17:16

Thank you all again.

Amanda1, will probably cat you in the next couple of days.

What is CP?

OP posts:
Twiglett · 10/03/2006 17:17

I think CP is cerebral palsy emkana

expatinscotland · 10/03/2006 19:09

bump for evening crowd

getbakainyourjimjams · 10/03/2006 19:13

emkana- I know a little about genetics. It sounds from what the consultant has said that they just don't know. I'm not sure what they do with the sample from the amnio- if its kept presumably tests for known conditions could be run. Unfortunately if you don't know what you want to look for then it can be almost impossible. Even knowing that your baby had a certain genetic condition may not give you much practical info as in some conditions the severity between individuals can vary.

Is there a king of no 1 in the country (like a prof nicolaides type) you could be referred to? How did you find the consultant- was his manner good? H sounds pretty senior and experiencewd which is good.

getbakainyourjimjams · 10/03/2006 19:14

sorry kind of no 1- one handed typing...

getbakainyourjimjams · 10/03/2006 19:17

I've emailed tamum, she knows way more than me.

Original poster
emkana · 10/03/2006 19:18

The examination today was at the Fetal Medicine Centre in Bristol, which I am told is renowned for being very good. So I guess he is pretty experienced, unfortunately in a way...

I sat down earlier and looked at the reports from the two last scans - one was done Wednesday and one today, so only 48 hours apart.

Looking at seven different measurements there are none which are the same or even near enough the same between the two. In the case of the amniotic fluid there's a difference of 4 cm, which makes the difference between just above normal level and well within normal range.

Now dh keeps pointing out to me that the consultant today is probably more experienced etc. and therefore we should not be seduced into thinking he made a mistake. But if he was a little bit wrong, then that could throw a different light on things...

the whole nature of these scans just leaves so much uncertainty when there can be such differences in measurements!!!

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Original poster
emkana · 10/03/2006 19:19

Thanks for e/mailing tamum.

I don't know if there's anybody else I could be referred to. The report from today has been passed on to a geneticist apparently to see if he has any thoughts.

OP posts:
soapbox · 10/03/2006 19:19

Emkana - I'm so sorry you found this morning's scan so distressing!

I think your reactions are entirely understandable - and quite normal. That doesn't make you feel any better though does it!

You are having a terribly difficult pregnancy and I hope the outcome is better than the consultant fears it might be. Whatever happens though, like many of the posters on the SN threads who I have the utmost respect and admiration for, you will cope with it!

I desperately hope that your strength is not tested in that way though - I really do!

foxinsocks · 10/03/2006 19:20

were you scanned on a different machine?

I think some of them are higher quality than others.

My heart goes out to you - it's the uncertainty really isn't it - if you just knew what you were dealing with.

Do they think they may get closer to a diagnosis as time goes on or are they resigned to waiting for the birth?

getbakainyourjimjams · 10/03/2006 19:21

yes I agree emkana. Very frustrating. It is good that you have been seen at a top of the range place. Bristol is good. Are you local to Bristol? (I'm in the SW as well).

blueteddy · 10/03/2006 19:22

Don't have any experience of this, but wanted to post to say how sorry I am that you are going through this. It must be awful for you.Sad
Thinking of you & really hope you get some more positive news soon.xxx

Original poster
emkana · 10/03/2006 19:22

It was a different machine, dh reckons a better one today which is also why he says we should trust today's measurements not the ones done on Wednesday by the sonographer.

We will have the MRI scan and they will rescan at regular intervals to review the situation, see if anything changes that can throw more light on what we are dealing with.

OP posts:
soapbox · 10/03/2006 19:23

emkana - I suspect tht is whether he wants to do an MRI - I would have thought the measurements would be very much more accurate on an MRI scan!

Original poster
emkana · 10/03/2006 19:23

I live in Gloucester.

OP posts:
tamum · 10/03/2006 19:24

Thanks for the alert JJ (and thanks NdeP!). I am so sorry, but this really doesn't ring any bells, and as jimjams says, it sounds as though they are saying genetic in the sense that it must be inborn, rather than because they know what condition they are thinking of. What a shame, after all you've been through. I've just looked on Pubmed, and anything referring to fenur and ventricle size is about a trisomy, which they have already ruled out. Presumably they must have checked for translocation DS, not just trisomy? I so wish I could help :(

foxinsocks · 10/03/2006 19:24

I didn't even know they could do MRIs on unborn babies. I really hope it provides you with some reassurance.

fastasleep · 10/03/2006 19:25

Emkana, never had any of your problems exactly, but we were told with DS that he might not survive his birth.... thank god he was fine(ish), but I know a little of what you're feeling right now I'm thinking of you xxx you'll find that you're probably a lot stronger than you think you are, and soon you'll be looking back on this time and feeling proud of yourself for being so brave!

tamum · 10/03/2006 19:27

(I did spell femur properly when I did the search by the way). I just looked in another genetic database, and the words femur and ventricles have no hits. I'm not a clinician though, so that's what you really need.

getbakainyourjimjams · 10/03/2006 19:27

ah not too far- we're in Devon. (everone gets sent to bristol from here as well). They do have a very good peadiatric neurology team at bristol (who have been seeing a friend's dd in conjunction with geneticists etc), so you can be confident you are in a place with lots of experts.

Original poster
emkana · 10/03/2006 19:28

Thanks tamum! I don't know whether they checked for translocation DS - would they normally when doing an amnio?

The problem is that we won't get any real reassurance from the MRI, because as the consultant today said a scan that shows nothing abnormal doesn't tell you whether the brain actually works properly.

I guess it will give us a better measurement for the ventricles, because for them we have had all sorts of measurements since our first scan, between 11mm and 15 mm.

OP posts:
tamum · 10/03/2006 19:31

emkana, you need bluebear really, as she's a cytogeneticist, but I would have thought it would be essential to check for translocations if you're doing an amnio to look for Down's. Sorry to be passing the buck :(

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