May be exomphalos, may be not? Anyone experienced anything similar?

[cowbag1]

Currently pregnant with DC2. I had my NT scan yesterday, put me at 13w 2d and everything seemed to be fine, heartbeat, brain, limbs etc but they saw what they thought was a small exomphalos (not a gastroschisis apparently as it had a membrane around it). They squeezed me in for a consultant scan today and he confirmed that everthing else looked ok and he wasn't convinced that it was an exomphalus. He thought it could be a "gelatinous mass" in the umbilical cord (which he sounded more positive about but sounds equally terrifying to me!) I have to be rescanned in 3 weeks and at that point may have to have amnio as if it is exomphalus, it may be related to a chromosonal abnormality.

DH and I felt awful last night, I was expecting to be told today that the baby couldn't survive so I feel a tiny bit more positive now but it was pretty difficult talking to the MW today about trisomy issues and the things we might have to consider.

I feel in shock. My last pregnancy was completly trouble free and I fell pg first time again this time. Does anyone have any experience of exomphalus? I can't find any reliable stats on how likely it is that the baby has a chromosonal disorder. I don't know how I'm going to get through the next 3 weeks, cope at work etc.

Anyone?

No sorry, but didn't want to read and run. hope someone else comes along soon!

No personal experience, but it sounds as if you are in good hands and that everything possible is being done to ensure a positive outcome.

Thanks for replying. It's this 3 week wait that's driving me mad. I can't really understand why the consultant didn't recommend amnio straight away. He said it wasn't classic exomphalos but he couldn't really say what it was. But surely doing an amnio now would at least put our minds at rest a little?

I can't find any examples when googling of people with a query exomphalos who are then left 3 weeks before anything further is done?

It seems fairly clear that the consultant thought there could be an 'innocent' explanation and wants to wait and rescan. In three weeks time, baby will have grown and it will be easier to tell what is going on. If everything looks OK then, you will be spared the discomfort and risk of an amnio. I think it's worth the wait, however difficult that may be for you. Hope it all turns out OK.

Sorry I don't have direct experience of this condition but have you been told about arc? it's an Antenatal results charity. They give impartial advice following Situations like you have. They may be able to explain why the wait, or give you advice if they think you should be reviewed earlier. Good luck.

Could you look at getting a Harmony test privately maybe? You'd at least get the genetic results back quicker. Good luck, I know the wait for things like this is awful.

Yes I was considering harmony, it's just the cost that's putting me off. How quickly could I get in to have it done?

Just a small update in case this is of use to anyone, I've just had my screening results back and they've come back as low risk (1 in 100,000 for Edward's and Patau's and 1 in 6500 for Down's).

This has given me a small ray of hope even though I know that there are other conditions that can cause exomphalos besides those 3 so I still may need amnio in 2 weeks.

I'm trying to take comfort from the fact the consultant wanted to wait for 3 weeks as in all the examples I've read on the internet, amnio/CVS is suggested as soon as the exomphalos is spotted so maybe he thinks it might resolve itself?

Good news re your screening results. Hang on in there!

Just a quick update ................... had my scan today and the consultant couldn't find any evidence of the exomphalos now (or whatever it was, as he wasn't convinced of the diagnosis). He seemed pretty surprised actually! I won't feel completely comfortable until the 20 week scan but the small amount of relief I feel already is amazing!

Great news Cowbag

Excellent, what a relief!