This thread has given me a lot of support and hope over the past few weeks and I wanted to share our story just in case it can help someone else.
At our 12 week scan we were given the devastating news that our baby had a nuchal measurement of 6.4mm, a 50% chance of having a chromosomal abnormality and if all clear on the genes a 20% chance of a major structural problem with one of the major organs - most likely the heart. We were advised to have a CVS, which we were lucky enough to get the following day - a friday. The doctor who did the scan before the CVS, noticed a short nasal bone and told us that our baby had a reverse flow in the ductus venosus - both of which he told us were soft markers for down's. And my blood results I had given as part of the NT test the day before came back and combined with the measurement and my age (38) gave us a risk of 1 in 5 for down's syndrome, so we decided to go ahead with the CVS.
The procedure was ok, not painful, just uncomfortable and the doctor talked us through what he was doing every step of the way and afterwards checked back on our baby and we could see that the baba was happily waving away and not at all affected by it.
The next few days I can only describe as the longest and some of the darkest days I have known....because of the NT and the soft markers I was convinced that our baby was going to be diagnosed with a chromosomal problem. It took three working days (over a weekend) for the results for Down's, Edward's and Patau syndromes to come through, and we were absolutely delighted (and very surprised) when they came back clear. It was another week until the full karyotype results came through and again we were so surprised given the bleak odds we were given at the initial scan that these were normal too.
Because of the clear chromosomal analysis, we were booked in for an early heart scan at 17 weeks as high NT measurements can be an indicator of heart problems. I was so nervous before going in to see the consultant. But after a very thorough check of the heart, looking at structure and blood flow we were told that it all looked good - baby had a slightly leaky valve between one of the lower and upper chambers, but we were told this is unlikely to cause them any major problems and could well fix itself as baby grows. We've been booked in for a scan with a fetal cardiology specialist at 21 weeks, just to be sure everything is growing as it should be, but our chances of our baby being born alive and well are very good.
I know we have been very lucky, our care has been incredible and we feel as though we have beaten the odds - I just wanted to share our journey just in case anyone out there finds themselves in a similar situation. To be given scary odds is a totally terrifying thing - but they definitely don't mean that things can not turn out just fine.