Hello,
I was just wondering, on a long shot, if anybody had any experience of both of these defects found together? and if so, were there any chromosome disorders then also found, notably edwards sydrome?
I went to my 12 week scan extremely excited to see my baby actually looking like a baby as at the 6 week scan it was just a blob! Laid down and watched the screen, started crying the second I saw my baby wriggling about and was so happy nothing bad had happened since the last time I saw him/her. After a while of not speaking the sonographer put on a serious face and told us some issues had been found, exomphalos and arthrogyposis of the left forearm... felt like my world had been shattered.. definitely not how I was expecting the scan to go :( Since then I have been to a fetal medicine unit, and been told even with just the exomphalos, there is a 30% chance of a chromosome disorder, and also an 80% (!!!!!) chance of heart defects. They have made it very clear to me with the addition of the arthrohyposis it's a big indication the baby has edwards sydrome.. The affected left hand also has a much shorter forearm bone.
I had an amino test done earlier (ouch) and I'm very anxious for the results so I thought I'd try find any other instances of both of these defects found together and if anyone has any reassurance as I'm very nervous right now while waiting :(
Also, if in the instance it was found to be edwards sydrome, has anyone had a reoccurrence of this in another pregnancy? I will obviously be asking the doctors these questions but I am just looking for any real experiences of these.
Thankyou in advance.. and sorry for rambling/asking lots of questions.