Hi all,
Firstly I wanted to say thanks to everyone on this forum - you are an amazing group of people. I've never been on Mumsnet but when the story below happened a few weeks ago I spent a lot of time here reading. :)
I wanted to share my story as I found stories of hope really helpful when I was here. If you are reading this and have questions please post here or send me a PM. Sorry if it is a bit long, but I wanted people who were in my position to have as much info as possible!
So...
We found out we were expected our second child (daughter is just over 2), and didn't expect any problems as we are both still 'young' (I'm 32, gf is 32) and first pregnancy was fine.
We had our NHS Nuchal scan and the measurement was just over 2.3 mm or so. However, then our blood results came back and we got categorised as 1:35 high risk. I was quite shaken but not freaking out; we wanted to avoid amniocentesis if possible and learnt about the Harmony, which lead us to the FMC and the fact they could do a more detailed scan which normally gave you a more accurate (and lower) risk assessment.
So we went to the FMC and had the Nuchal test again, but in far more detail. They process the bloods right away (less than an hour), and had amazing equipment and great Drs. Unfortunately, the NT was 3.6-3.8mm (baby not co-operating) and combined with the blood results (1:34, the PAPP-A was 3.8MoM and hGC was 0.68MoM). Furthermore, whilst the nasal bone was present, there was tricuspid regurgitation (and a possibly hole in the heart, but it was made clear to us that was inconclusive). The heart was a soft marker for DS also, and they assessed our combined risk as 1:2. However, I believe that is the highest they go with non-invasive tests, and to me it seemed quite certain.
They offered to do CVS immediately and we agreed. The procedure was done smoothly a few minutes later. My gf felt unwell and we were given a room for her to rest in which we spent an hour in with Dr coming to check on us regularly.
The CVS was on a Friday and we got the initial results on the following Tuesday (after lots of tears and spending time on Mumsnet!). We had decided, depending on severity of heart problems, we wanted to keep the baby. The poem about going to Holland was really helpful to me - it wasn't the life we'd imagined but I wanted to be positive. However, this is a very personal and difficult decision and I can absolutely understand both sides of this coin.
So the results came back clear for Downs, Edwards, Pataus and Cystic Fibrosis. In the interim my gf began to leak some fluid and off to the hospital for that - it stopped after a few days without intervention and we were told it can happen following CVS.
We now had to wait for the further karyotyping results for rarer conditions, and have our cardio scan. We went back to the FMC for the cardio scan. The specialist there spent an hour or so measuring and checking the heart and valves, keeping us informed as she went and stopping to show us our baby and print photos. She patiently asked lots of questions I had.
There was no hole evident, and she explained that heart problems can caused an increased NT (but not explain the blood results) and she'd assess our risk of a hidden major complication at 5%.
The tricuspid regurgitation was still present but she felt the valves are fine and said TR is not uncommon and she believes it will go away. We are currently at 16 weeks and have another heart scan (this time at UCLH) booked in 4 weeks time to check in. Fingers crossed.
The karyotyping came back all clear - they emailed us the results before posting so we didn't have to wait any more time! We also found out we are having a little girl.
So - we went from 1:2 high risk, with soft markers, to cautiously optimistic that we are just an outlier. I'm not sure I will truly believe it until after the birth, but considering where we were at one point.
I hope this helps someone, and if you are reading this and have questions please do ask and I'll do my best!