Harmony test V Amnio

[bilbob23]

I am due an amnio on Tuesday, I will be 17 weeks gone by then, I had a high risk of 1:94 for DS. I have waited weeks for the amnio and the nearer the date is the more terrified I get. This wasn't helped when I was on the phone with the genetic counsellor and I asked how often the person that will be doing the amnio to me on Tuesday performs amnios-she said 30 a year, this to me doesn't sound very promising!? Or does it?! When I was given the high risk i was adamant that if there was a problem then I would terminate, but with the support of my husband I am not too sure now if I would terminate, unless the diagnosis would be incompatible with life. I can't live with not knowing though and not being able to enjoy the pregnancy. The question is whether I should go for the amnio or opt for the harmony test, I would gladly pay the £500 for the test in our region. Can I go to the appointment on Tuesday and get the scan and then decide not to have the amnio? Can someone please give me their stories and experiences either way please? Thanks.

Right up until the point the needle goes in, you have the right to refuse the amnio. I don't suppose it would be the first time it would have happened to a doctor either. Don't feel bad about it if that's what you do, and don't feel pressured into it once you're there either if you're not totally certain now. Of course chances are things would be fine, but if there was a complication that's one heck of a thing to live with if you weren't certain it was the right choice. Bad enough for those who were certain.

Not sure I'd be happy with 30 a year either - did you get any statistics on complications? I have no idea what a good rate is but if I was going to get a pre viability amnio I'd go for somebody who at least does them daily on average.

If it's only for Down Syndrome then absolutely go for the Harmony test. It will obviously take two weeks for results (some people get it a little sooner) but if you get a negative that really is a 1 in 10,000 risk and you can be pretty much reassured by that. I screened at 1 in 5 and a friend at 1 in 2 and we had negative Harmony tests at the Fetal Medicine Centre in London. The doctors were that confident in the result they strongly recommended no amnio and neither of our babies has Down Syndrome.

Positive results are less reliable but hopefully that wouldn't be an issue and you'd be back to your original amnio-or-not decision anyway.

Harmony is less reliable for T18 and even less reliable for T13 (think it is that way round) but those aren't an issue for you I am assuming as the bloodwork profile for those is contradictory to T21.

Another option is to have a late amnio. With DS (1 in 34) it was 2011 and Harmony etc was not available so at 32 weeks I had the amnio to know for sure. It's pretty much safe as the risk of loss becomes a risk of preterm birth. Although we weren't going to terminate I basically needed to know so it didn't overshadow the birth.

Good luck with your decisions!

It also kind of depends on how long are you prepared to wait for results. You probably would get amnio results in ~3 days, Harmony takes 2 weeks. As your overall risk for Down syndrome is not that high, Harmony could be a good choice.
If you are sure you'd continue pregnancy regardless, then it is definitely better to avoid miscarriage risk with amnio (however small).
I had CVS with during first pregnancy, but the risk was much higher (1:7, all was fine), and the procedure was not too bad, but the wait was terrible, even though I only had to wait 24 hours. Harmony was not available then. Now I had Harmony, even though I knew I would not terminate for Down syndrome, but in the end it turned out I was also low risk this time.
Also, Harmony fails in ~5% of tests as sometimes there is not enough fetal DNA in blood.

Thanks for your replies. I think I will decide tomorrow, but by now I just want it over with. I just feel so selfish, taking a test that could harm the baby just because I can't wait until the birth, but what if there is a life threatening condition.
Thanks once again.

Thought I'd update you on what I did in the end. I did go through with the amnio on Tuesday, it was quite painless physically, the mental torture is much worse. I got the rapid result this afternoon, 48 hours later, a lot faster than I thought. The result didn't show any problems, just have to wait for the full result now in 2 weeks time. I just have to hope now that nothing will go wrong after the amnio, that the result of the full test will be ok and that the 20 week scan won't show anything too. The worry that come with pregnancy is unbeliveable, it must just prepare you for motherhood!
If I will be lucky enough to fall pregnant again I will opt for the harmony test at 10 weeks. Thanks again for your replies, much appreciated.

Glad to hear all is fine! I completely understand why you did it - it is one thing to wait 2 weeks for Harmony when you are 10 weeks and have a baseline population risk, and completely different after you've been told the high risk and are further in pregnancy.
When I had CVS, I was told that if everything is fine after 24 hours after procedure, the risk of miscarriage goes back to pre-procedure level. I think it is similar for amnio.
Yes, motherhood comes with its own worries, and my DH and I often say, that our main job now is trying to prevent our DS from killing himself 24/7, but the worries fade with time and there is so much joy the children bring everyday!