Hi,
Well, we've been thrown onto a bit of a rollercoaster. We had our 12 week scan yesterday and had expected it all to be a bit of a formality but things took an unexpected turn. We had declined the combined test but the sonographer saw the level of nuchal fluid was significantly higher than it should be and had to let us know - it was 6.7 so not even borderline high. The normal range is up to 3.5. She was very kind to us and we have no issue with being told given the measurement. We were offered the blood test straight away and decided we had to have this to give us as much info as possible.
We were also offered a pretty much instant appointment with a consultant at our area's main maternity hospital (scan was at a smaller one). The consultant agreed with the nuchal measurement and spent time explaining everything to us. Basically, it could still be nothing, could be a chromosome or genetic problem (such as Downs), could indictate a heart problem or other systemic issue. She did say she has one lady who is now 20 weeks pregnant and had a nuchal reading of more than 5 for which they have so far found no reason (she had CVS and has had heart scans and all look normal) so we are still optimistic that things could be ok, although obviously there have been a lot of tears over the last 24 hours and both of us barely slept last night. On the positive side, she could see and measure the nasal bone - with Downs Syndrome this would be absent in 3 out of 4 babies.
Blood tests were sent through quickly and back before lunch today. These were less worrying than we'd feared. By blood I am low risk for the two more serious chromosome issues (18 and 13) where the prospects are pretty dire. On the Downs Syndrome front the blood was a bit raised on HCG (2.19) which can be a marker but on the second measurement (PPAP-A) we were actually slightly higher whereas you would expect it to be lower for Downs. Sorry if this is all a bit scientific but still trying to make sense of it all.
Anyway, overall we have now been given a 1 in 6 chance of Downs Syndrome, based mainly on the nuchal - I was told my bloods are "not that bad". I'm 31 years old.
Next step, we have an appointment at St George's Fetal Medicine Unit in London first thing on Monday. We'll see another consultant and have another scan and after that, unless anything changes dramatically, we're looking at CVS. If you'd asked me 48 hours ago about having this procedure I would have said almost certainly not but now with so many question marks hanging over us we're both starting to feel that we just need more information. It's been suggested that St George's has a better than the national average rate in terms of miscarriage - 0.7% - which is a bit reassuring, however, it's not a decision we're taking lightly. This is the hardest thing either of us has ever been through so far in our lives. This is our first baby and very planned and wanted.
If the CVS finds nothing, we will still need to have a very detailed heart scan at 16 weeks as CVS can only rule out some things but we kind of feel that we have to start ruling things out now so both we and the doctors can plan ahead.
Trying to stay positive and hold onto the fact that it could still be nothing major. Plan to rest up this weekend to try and feel as strong as I can for Monday.
Please keep everything crossed for us.
X