Anyone want to join in the long wait for results of Harmony/ Amino/CVS?

[EverthingcrossedforApril14]

I have two lovely healthy babies and this is my third pregnancy. I had the Quadruple test (It is all they offer in our area), two weeks after having the test the hospital contacted me to day I had a 1:5 risk of DS, I was devastated and could not stop crying. I am 33 and my age related risk is 1:540 They booked me in for an Amino on the Wednesday (2 days later).

I was so distressed we paid for a private scan I needed to know if they saw anything on the scan. The Consultant an expert in Foetal abnormalities said scan was good and baby looked healthy. However, she did say a 1/3 of babies with DS have a normal profile. On Wednesday we attended our NHS appointment again was scanned by another Consultant and she said scan was good, she advised us to not have the Amino and to go the Harmony route. We paid privately for this and had yet another scan, everything good again. We had the Harmony on Wednesday past so now I am in the longest wait and hoping some other ladies might be going through the same thing?

I was finding the results difficult to cope with so obsessively researched everything I could, to my horror on Thursday night I discovered that the hospital had entered the wrong gestational age for the baby, I was 15 weeks and 6 days when the sample was taken and they said I was 19 weeks and 6 days. I contacted the hospital on Friday and they have admitted they made a huge mistake, they have re-calculated my risk and it has come back as 1:1400. I was really relieved but I am still anxious about the result of the Harmony. The hospital has raised the idea of risk and I am just so anxious. Family are so excited it as if they think I have got told that my baby does not have DS but it is still a possibility. Just hoping there might be other ladies waiting on results so could chat to someone in the same position.

Also playing the waiting game. I'm 12 weeks pregnant and had the test a week and a half ago but got the call this morning to say the test hadn't worked and that I have to repeat it on Wednesday so I will have another 2 weeks to wait and I'm not certain it will work then. I have a high BMI so I think this may be effecting the outcome.

That is awful delphi13, no-one told me there was a chance it did not work, what constitutes a high BMI? I could maybe in that category as well. What was the reason you had the test? this the worst time of my life, waiting is the worst thing. Glad to have some company x o

Well I'm over 30, not quite sure of exact number. Basically it means that the ration of maternal DNA in the sample they get is a lot higher because of my extra bulk. They will try again but if that was the reason it failed then it's not likely to work. The woman on the phone did say that she had had to call another 3 women today to tell them the same thing. I think the failure rate is supposed to be 5% but that might just be something I've read on a forum that may be complete rubbish, can't remember where I saw it.

I tested because both my sister and sister in law had to terminate their pregnancies due to chromosonal problems that weren't consistent with life. My sister was 24 week when she lost her baby and it was such a difficult thing to go through for her that I really wanted to find out as much as I could as early on as possible. Both sis and SIL have other healthy children and I think it was just one of those things but as I'm 36 I don't want to take chances.

That said something tells me everything will be ok for this pregnancy. I had an ectopic last year on the same day my mum was diagnosed with cancer and mum died shortly before I found out I was pregnant with this baby, even though I don't really believe in this kind of thing I still sort of feel this was my mums last present and therefore there can't really be anything wrong. I hope I'm not disabused of this notion.

Have read on the internet that weighing more than 70kgs can put you at risk of the failed result and over 90 kgs is definitely in the failed range, I am sure I am as near to that as be damned, am 5 months pregnant. I did wonder that they would have a fail rate of only 5 % if the weight is such an issue, I do not think that 90 kgs is particularly large for a pregnant woman.

Sorry to hear about your SIL and sister, I can understand why your worried but it is great that you have a feeling that everything is ok, I hope this is the case for you. Most of the issues incompatible with life tend to be genetic but not inherited (I think) and if you have no other risk factors maybe your gut instinct is right. I am sorry that you lost your mum as well, but that would be a lovely story if you get the all clear and something to tell him or her when they are older.

I am not sure how I feel, I am just so anxious. I am not sure how I would feel if I got my correct risk rating of 1:1400 first. I do not think I would have gone for the Harmony but now the hospital has raised the whole idea of risk and I find it hard to put it to bed. I feel that things are very much in my favour in relation to re-calculated risk rating and good scans but that nearly makes it worse if the outcome is not positive.

My sister had a low risk the second time round but couldn't rest because of what had happened before so had the Harmony test for reassurance and because she didn't want another Amnio after the first pregnancy.

She was able to relax a lot more after the result so I think it's well worth doing.

The chances are very small that you will have a bad outcome but I know nothing can be said to make it better until you get the answers.

Interesting to hear about the kilograms vs failure. I'm definitely in the 90kg category so I really don't hold out any hope for getting the results. Shame but hopefully the NT scan will hold some light for me.

I have emailed the American company and asked for clarification on the weight issue and what constitutes a high weight so will let you know what they say. I asked ARC about it and they seemed to think it was unless BMI was very very high. Hopefully, the NT will give you a good result but all these tests (apart from the Amino/CVS and Harmony) seem to be very unreliable and can indicate problems were none exist, lots of good examples on this site of that. Fingers crossed for us both.

The American company emailed back but they avoided discussing actual weights or to give a figure or a value that would invalidate the test. It makes sense, I suppose they do not wish to discourage people from availing of the test. The said it is due to the fraction of foetal DNA in the sample and that in some cases but not all for ladies who are heavier the fraction is smaller but they were adamant that it is not always the case. So not really any further forward with that. This waiting is awful. I will be waiting a week tomorrow but it seems much longer than that!

Apparently there is a 50% failure rate on the repeat test so I'm pretty sure I won't get my results. I guess it would depend on a lot of things, not just weight so they won't have the figures for when it won't work.

My NT scan went very well so I'm less concerned with getting the results now. I feel confident that all will be well on the chromosonal front. Now to get on with getting anxious about the 20 week scan!

That is great news delphi13 you always had a feeling that things would work out and I hope this is the way it works out, it certainly seems very positive to me. I get the results of the Harmony next Wednesday the same day as my 20 week scan so that will be a big day for us. Hope the Harmony works second time around for you

Good luck for today! Hope it goes well.

The Consultant emailed me to say it has come back as low risk for all three Trisomy's. Really relieved but also shocked that this nightmare is final over. They also confirmed that it is a boy. Keeping everything crossed for you and keep me posted! x o

Hurray! Congrats on your little boy. Hope your scan goes well today. Should be some great pictures from it at 20 weeks.

Thanks delphi13 hoping you get the same result very soon. Scan went well I just could not have taken any more drama, but all was fine. I am so exhausted now, I just want to sleep, which has surprised me. I think it is just the come down from all the strain over past two and a half weeks but you know what that is like! x o

Hurray!! I'm so sorry you went through that stress, caused by people not doing their job properly

Congratulations on your baby boy!!

Wonderful news, so pleased for you!

Now, if you have it in you, could you perhaps write a super shitty letter to the hospital?

If you hadn't been so proactive and on the ball, you could've risked a healthy pregnancy with an unnecessary invasive procedure. It's outrageous

Agree with lostlove - thank goodness for the Harmony option. A year ago it might have been a different story. And you're out of pocket - would you have had the test at 1 in 1400?

Thanks ladies, the hospital have had to complete a Serious Incident Report and complete an investigation, I am very keen that no one else unnecessarily goes through what I have went through and I would be concerned that they may not have the option of paying for the Harmony and be forced to make a different choice. Planning to write a letter to the hospital when the dust settles for me to explain what happened and how I feel.

Part of the problem is that the hospital I am due to deliver in is very busy so they sent me to a Clinic in another hospital for my antenatal appointments, it is suppose to be attended by staff at the hospital I am going to deliver in (satellite clinic) but this has not always been the case. I would never have chosen to go to this other hospital even though it is closer.

At my 20 week scan the person was from the other hospital and had not read my notes and asked if I had signed the consent form for the scan and read the information leaflet. I informed her I was never given the information leaflet and I had never before (2 previous pregnancies) been asked to sign a consent form, she turned round and said " so you did not bother to read your notes then" I nearly jumped down her throat, given the hospital messed up by not reading my notes.

The Consultant at the hospital were I am going to deliver saw me when I got the original result and in the scan she found that I had only a two vessel cord and said I would require additional scans in late pregnancy but when I saw the mid wife yesterday after the scan she also had not read my notes and said you see your mid wife at 28 weeks then that is you until 36 weeks. I was horrified and explained to her what the Consultant said and she said that is up to the MW at your GP practise at your 28 week appointment to decide if you require any additional scans. I enquired as to how she would make this decision as she would not be scanning me and she said by measuring your bump. I am so annoyed that I have rang the hospital I am due to deliver in and have explained they were equally horrified and said I need to be under Consultant lead care with regular scans. Sorry for the long post but I just want to let people know they have to question everything they are told. Only you will make sure everything is done correctly for your baby.

CrispyFB I would never have had the Harmony done if I had had my correct risk rating at the start I had similar risk with my son and never worried about it.
Thanks again for all the posts it really helped me through a very difficult time x o

Ha, don't get me started on questioning everything you're told - I honestly would not have DD2 or DS right now if I'd blindly listened to my doctors and not done some research myself - long story!! As a result I've long since lost trust.

I could not agree with you more about questioning anything you think doesn't feel quite right. Doctors are human beings and not infallible, and they make mistakes. And some don't have the most up to date information either, or they have misremembered and pass that bad information on. It is so important for patients to be their own advocates and to educate themselves on their health-related issues but so many people don't for many (often perfectly valid) reasons. Which is why it annoys me so much when doctors screw up - we should be able to rely on them but we just can't.

There's not many doctors I trust (the Fetal Medicine Centre is one of the few, given their pedigree with research) and even then you can still get human error with simple mistakes made. If a result is worrying, always question it - like you did! I even question good results just in case they've screwed up these days

Good for you (and baby) for being proactive.

Delphi13 how are things with yourself any news or update? hoping all is well.

CrispyFB sounds like you have been through the mill with medical professionals. It is crazy to think that there is so much room for error but I suppose that is life.

Hope you are all well x o

Hi Everything

Yes, an update, the test worked second time round and I got the 1 in 10,000 so pleased about that. Also found out I'm having a boy.

That is fantastic news delphi13 many congratulations and a little boy as well. I hope you have a healthy rest of pregnancy and keep us posted x o

Congratulations, delphi!

About how long did everyone have to wait for results? I know they told me 7-10 days but it is such agony! It has been a week so far- 5 business days and the waiting it the worst! I am 40 so I suppose that there is more reason to be concerned than when I was in my 20's.

Just wanted to offer a hand hold, hopefully you won't have to wait too long now.

40andprego it depends on what test you went for, the Harmony takes 14 days, I had it on the Wednesday and the results came back two Wednesday's later. If it is the Amino you had the fast results are back within a few days but the full results take two weeks as well, I am sure a CVS is the same. what test did you have? wishing you lots of luck. Someone I know her Harmony came back in a week but she is the only one I heard of that had a quicker result than two weeks x