Amnio FISH culture unsuccessful - repeat the amnio?

[susannahscoffs]

I am 18 weeks pg and had the amniocentesis on Monday, was expecting the FISH (rapid results) by yesterday. I spoke to the geneticist and he said there were "no fetal cells" visible in the sample, and that it might not be possible to get any rapid results in which case we would have to wait for the full results which will take at least 2 weeks. But that might not work either.
He told me to phone back today as there might be some progress in the culture, but didn't seem too optimistic.

(Btw I am not in the UK so the usual NHS procedures don't apply, I am seeing an ob-gyn and she and another ob-gyn carried out the amniocentesis at hospital.)

It seems people sometimes have to repeat the whole procedure as 1/100 times the culture doesn't work - it seems, after a bit of googling (!) this can be due to contamination of the fluid with blood. Since they managed to scratch my tummy and draw a tiny bit of blood during the ultrasound (the needle must have been poking out slightly) I am now thinking maybe a bit of my blood got into the amniotic fluid and messed up the sample. The scratches were only noticed after the whole process was over.

I really don't want to go through the whole thing again because of the obvious risks and strain on the body but then again... want to know one way or another if the baby is healthy. We did the amnio on the basis of age (almost 40) and 2 previous mcs in the past year incl MMC. My doctor suggested I skip the screening tests (except for NT, which looked perfectly fine) and go straight to the amnio given that we wanted a definite result.

I guess I was just wondering if anyone had been in the same situation and what you decided to do as me and DH are feeling a bit confused and frustrated at the moment. TBH we weren't aware this "failure" could even happen! Thanks.

[susannahscoffs]

update - apparently we will have to wait for the full results in about 2 weeks as the doctor just confirmed there are no fetal cells in the sample they have for the rapid results test, but this is not due to contamination with my blood.

As to whether we would have to repeat the amnio, he said that will depend on the full, final results. So all we can do is wait the full 2 weeks :(

[Focusfocus]

I am confused as to why you have been advised to undergo such invasive testing, which not only strains the mothers body but carries a percentage of risk to the foetus - Without undergoing any basic.

Screening exists to give you a range of risk factors. You nay not be needing amnio at all. I would wish to know what the screening results are from bloods etc before making as serious a decision as to go for amnio or CVS.

This doesn't answer your question but I amsure someone will come by.

[KittyandTeal]

I know the process is different in different countries but it would be very unusual to be given an amino here just based on age and previous mcs (sorry to hear you've suffered such loss)

It must be very anxious time for you but I would wait for the full results and go from there. Is a harmony test an option? I presume you would have to pay extra and I don't know where it is available around the world.

I presume if age and previous loss is the concern then they are probably looking out for one of the three 'main' trisomies in which case the harmony would be perfect.

I am surprised they've given you an amino. Here in the UK I had to see a fetal medicine specialist and a geneticist who looked at my dodgy blood work and found 5 soft markers on a high resolution scan before the consultant would sign off on an amino.

[Susannahscoffs]

Thanks for your replies.

Well, it's a very different system here in Italy, a blend of public and private for most pregnant women, with a slightly more medicalised approach to pregnancy than in the UK in many respects. generally high standards of healthcare and ante natal care, lots of blood tests, good post-natal care etc. but little psychological/emotional support or counselling. Actually no official genetic counselling as far as I know!

however I was also a bit surprised at skipping the combined tests and going straight to amnio. I wish I'd had the screening now, it wouldn't have hurt to have that information.
I had the combined test with DD and got low risk. It was a different doctor incidentally (different city) and I was 34, so no need for amnio.

All women over 35 are offered it for free here. Lots seem to have it, or CVS, which my doctor said was riskier than amnio. There's less wariness about it than in the UK.
In this region, Harmony is only available privately (700 euros) at one or two clinics, which I could have gone to. I did ask my doctor's opinion of Harmony and she said she didn't think it was that reliable yet.
I think the reasoning was that given my history and the fact that we wanted to know one way or the other we might as well do it this way.

She's very surprised at the rapid results sample not working, I guess it's just bad luck!

[KittyandTeal]

I'm not sure if it depends on the company doing the harmony test and where the results are analysed but here it's around 97-99% accurate for the trisomies.

Obviously Italy has a different way of identifying possible high risk pregnancies.

I would still wait for the full karyotype to get back. If age is your only risk factor then you have a very high chance of it all being negative.

If they can't get any results I'd think carefully about having another. Maybe it's just a 'U.K.' Type attitude but it does seem unnecessary to have such invasive testing with no soft markers.

Do you get a 20week anomaly scan in Italy? You could wait for that to see if anything is picked up and if so opt for another amino. I'm not sure if the miscarriage risk goes up with the number of amnios you have (ie more than one carries a higher risk) but that might be a question to ask your doc.

[daluze]

I'm also surprised with the advice to go straight for amnio without a combined test. Age is only one of risk factors, and everything else being fine, you can still be high risk. I'm also surprised they suggested amnio because of prevous miscarriages. Sometimes repeated miscarriages are caused by balanced chromosomal translocation in one of tgd parents, i.e. when 2 chromosomes exchange parts in one parent. A parent still has a right number of of all chromosomal parts, but by chance a baby may get unbalanced set, with a part of chromosome missing or being extra. However, to check that the tests are first done in parents blood, and only if it is found that one of the parents has a balanced translocation, then the invasive testing might be recommended. It is quite a rare reason for miscarriages though, other reasons are much more common.
Anyway, if you can get a good 20 weeks anomaly scan, it may make sense to wait for that before deciding to repeat amniocentesis.
Good luck and I hope the full results work and give you reassurance!

[Firsttimemummy33]

I had a second amniocentesis as the first failed due to being contaminated with blood. Had the first as baby was very small and chromosomal problems were high risk. I had it after the two weeks of waiting for the results of which there were none and was aware of the risks but was 30 weeks pregnant at that point and needed to know. The doctor told me as I had been fine following the first amino it was likely I would be fine second time around. If I hadn't been so far along and if there wasn't a real risk of problems with the baby identified then I probably wouldn't have had another one.

[farfallarocks]

Hi Susannah, I would definitely go for the harmony in your position, its actually 99.9% effective and totally non invasive. The results take 2 weeks so you would be no worse off.
I know amnio is very popular in Italy based on age alone but I would not risk it again if I were you, 1% MC rate is actually quite high.
Good luck!

[susannahscoffs]

Thanks all. Just wishing we'd had the combined screening at least, quite annoyed with our doctor fast tracking us to the amnio.
I will be having the anomaly scan in a couple of weeks so will wait for that (in the absence of any conclusive amnio results next week) and take it from there. We don't intend to go through the amnio again.

[susannahscoffs]

Just an update, i got the preliminary full karyotype today and it looks like everything is fine, so far. They can see that there's the right number of chromosomes, but we'll get a more detailed report in another week.

So the FISH culture failure did not mean the whole amniocentesis failed, thank goodness!
Just thought I'd post in case it is useful information to anyone else in the same position.