This happened to me this pregnancy. I am also 34. My bloods were great but the NT measurement was 3.8 and that was what gave me a 1 in 60 chance of Downs. I think it was 1 in 258 for the other Trisomy conditions. A good sign was that the baby was growing well. Most Downs babies are on the small side, even at this stage.
Because the baby was already measuring at 13w 2d, I couldn't have a CVS (cut off is 13 weeks for CVS), I had to wait to have an amnio.
The worst bit I think is the waiting. You can't have the procedure until between 14 and 16 weeks and I found that I could not stop thinking, wondering, worrying the entire time. Cried quite a few times too.
The great news (if there is such a thing) about having an amnio is that the results are 100% so if they come back clear there is NO chance the baby has Downs.
The accepted risk for miscarriage with an amnio is 1 in 200 (CVS is 1 in 100, so higher risk than amnio). However, if you go to an experienced practitioner the odds are much better. My ob made sure I went to a very experienced doctor and they told me the odds at their practice were more like 1 in 700 or even lower. There is, however, no way of telling who might miscarry and who won't, it is very random and there is no indicator of what woman would be more likely to miscarry.
When you conceive the chromosome pairs in the egg and sperm divide and the baby gets one from each pair from Mum and one from each pair from Dad. As a woman gets older, the chromosome pairs in the egg get "stickier" and sometimes a chromosome won't separate so the baby winds up with 3 chromosomes (2 from Mum, 1 from Dad). The age of the father is not a factor because sperm regenerate constantly but women are born with all their eggs (so we are the problem!!)
Depending on which chromosome it is, that is what "syndrome" the baby has. Downs babies are generally the "best case scenario". There are 2 other syndromes called Edwards and Turners and these 3 syndromes are usually the ones that would be the case if a pregnancy has made it past 12 weeks. An abnormality on other chromosomes would probably cause the baby the miscarry very early on.
So when you have the amnio they first do a really thorough ultrasound and check out the baby and how it is growing. I told them flat out that I wanted to know what they were seeing, good or bad, and not have to sit there in silence. The woman doing the ultrasound fully agreed with me and said that was her approach anyway. She was great, the first thing she said was "well the first thing I see is that the baby has a nasal bone which most Downs babies don't have which is an excellent sign". She also went on to say that the baby was growing beautifully, not small for dates, and the limb length was exactly normal (Downs babies tend to have short limbs). The high nuchal measurement had resolved itself and was now thin, so much so she didn't even bother to measure it again. She could also tell even at this early stage that there was nothing major wrong with the heart - that was the other thing with a high nuchal measurement, there could be something wrong with the heart.
She said because they do these ultrasounds all the time they can nearly always give a pretty good guess from the ultrasound alone if the baby is okay although they do occasionally get a nasty surprise when the results come back. Interestingly they didn't think my odds of 1 in 60 were too bad (I suppose it is all relative when you see high risk cases every day), it's when a woman comes in with 1 in 10, 1 in 12 odds that they think that gee, there really might be something wrong here.
After she was done the doctor came in to do the amnio itself. They swab your tummy with antiseptic and I was SUPPOSED to get a local anaesthetic but he didn't give me one. I had been warned it wouldn't numb all the way down to the baby anyway. But anyway, the doctor has a good look on the ultrasound to determine the position of the baby so he knows where to insert the needle. (Needlestick injuries to the foetus are very rare).
So he just jabbed the needle straight in and I was squeezing DH's hand for dear life. It was extreme discomfort bordering on pain but I wouldn't say it was as painful as, say, labour. It was a bit confronting because I could see the needle on the screen and it is quite long, but not thick (a thick needle hurts more) and he jabbed with a bit of force. The needle was quite fine so it takes a couple of minutes to get the fluid out. He got 2 syringefuls (but only one jab, he just attached the new syringe to the needle while it was already in me so I didn't get jabbed twice). The fluid looks just like wee, to be honest.
Once the needle was out there was no more discomfort and they let me lie there for a few minutes before I got up. I felt a little bit crampy (like very very mild period pains) but other than that absolutely fine. I did feel a bit crampy for about 24 hours afterwards but also very mild, not even worth taking a Panadol for. If you haven't miscarried in 48 hours then you won't miscarry...or at least, if you do miscarry after that timeframe, it is nothing to do with the amnio and you probably would have anyway. The fluid they take will have regenerated within a day or so too.
They tell you to take it easy the next day and not do any heavy lifting (but bed rest not necessary). The day after you can go back to your normal life. Thank God we had SIL staying over so she helped out with the kids and also we didn't have to take them with us.
The lab do 2 tests on the fluid samples, a FISH test (which stands for fluorescent something or other) which tests for the 3 most common trisomies (Downs and the other two) and the sex chromosomes to make sure they are okay. The other test takes about 2 weeks and they test every single chromosome.
With the FISH test you get the result back in about 24 hours so try not to get an appointment for Friday or you will be sweating over the weekend. If that test comes back all clear it is HIGHLY unlikely anything will come back from the full chromosome test and we were specifically told to chill out and relax after our FISH results. This is of course how we knew the sex so early.
They do the tests by collecting skin cells the baby has shed into the amniotic fluid. Very occasionally they might not get a big enough sample so they would skip the FISH test and go straight to the full chromosome test but that is very rare.
If something is wrong they will sit you down and talk about the prognosis for the baby.
So really, once you get your test results back, if all is well you are back to having a normal pregnancy but with an extra clean bill of health. In my case I suppose I didn't really get the full all clear until the 20 week ultrasound because they had to give the heart an extra good check then because the high nuchal reading meant that maybe a major organ wasn't functioning properly. So if anything is wrong now, it's just a nasty surprise like it would be with any other pregnancy if you know what I mean.
So that's all the practical stuff. The emotional stuff isn't as easy. I didn't talk about it to anyone because I didn't want to articulate my worst fears. I also didn't want to put people in the position of hearing that and then not having anything to say. What can they say? They can't say "It'll be all right" because really, how the hell do they know? It would have just been hollow, empty words. And it was a pointless exercise to speculate on the worst possible outcome when there was still a good chance that it was all a false alarm. There wasn't really anything anyone could do or say.
Sorry, DD is screaming at me I have to go. Huge hugs to you.
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