Cystic Hygroma, Turners Syndrome, Down's Syndrome, Noonans, percentages!

[loving_life]

Hi all,

I am 14 weeks and 1 day pregnant. On Sunday just gone, I had an emergency scan due to some bleeding. At this point I hadn't had any scans except for one at 6 weeks and one at 7+4 due to bleeding again.
Well, during this scan on Sunday, I was told baby has a lot of fluid around its neck. A cystic hygroma. I wasn't told an awful lot about it as it was a Sunday so the specialist wasn't in and I tried to stay away from google as much as possible.
I had a call yesterday to ask if I could go in to see the specialist that same day. So we went in. The Dr was lovely, he scanned me and explained everything. Gave me all the options etc.
Basically, in a lot of cases, a cystic hygroma is linked to a chromosomal disorder. I have a 60% chance that this baby has Turners Syndrome, a 20% chance this baby has down's or Noonans and a 20% chance baby will be born healthy. There is also a 50% chance that baby will have a heart defect.
I was offered a CVS test yesterday to determine whether baby has a chromosomal disorder but I declined.
Next hurdle is a heart scan in 2-3 weeks time. I never got to have the 1st set of blood test for the downs screening (the one that gives you a 1 in something chance of baby having downs) because my nuchal/dating scan was so late!! NHS for you! SO they are gonna see if I can still have the blood test or not.
I will be offered an amniocenteses when I go for the heart scan. I don't want the tests because it doesn't matter to me if the baby has any kind of disorder but my OH would like me to have the test. We would never terminate the pregnancy but he would just like to know if baby has Turners or Down's etc. But he would never try and force me because he knows it is ultimately MY decision because it is me that would be poked and prodded.

So now it is just a waiting game.
But I have loads of lovely scan photos (the CH is very visible), here are some of the best ones

Anyone else going through the cystic hygroma nightmare??

 

[loving_life]

Bumping.... just in case :/

 

[kit10grl]

Hi, my LO doesn't have any of the conditions you described but we were told she could have Turners or Downs as they found she did have a heart defect at our anomaly scan. I'm sorry your going through this as its such a scary time.

I just wanted to say that if you really feel you want to be prepared before birth with the facts you can still have a late term amnio. We had one at 33 weeks. We had a lot of soft markers for Downs and wanted to know but hadn't wanted to have the amnio earlier due to the miscarriage risk. We were told an amnio can be done any time up till the birth. And obviously at a later date any rupture of the membrane wouldn't be a miscarriage at that stage it would be an early labour and chances are the baby would survive being born early.

Also its worth remembering that they cant test for every disorder on an amnio. So even if the amnio comes back clear it doesn't rule out every possible genetic condtion.