Positive harmony

[Blackcherrysundae]

Last night the private consultant phoned me to report my 10 wk harmony test was 95% +ve for T21. This was an unplanned pregnancy child no 3. We have 2 healthy boys age 5 and 2. I am 39 1/2 years old.
This situation really sucks! We can't take any action/ make appts as its the weekend. We need to access copy of results from private secretary on Monday then convey a copy to our NHS provider to facilitate a consultation and further tests - nuchal and poss CVS. We don't have a named consultant on NHS only number for midwife clinic so not sure how this will all run?
We are certain wedon't want to parent a child with T21. There are many reasons why and I'm not looking for advice or support to influence that decision.
I'm just wondering if anyone has experienced this situation? What other tests were you offered/ did you have?
Did you have a termination? Was it surgical? Or medical?
I'm sorry if I sound blunt and overly pragmatic! I don't wish to offend any readers who themselves have a child with DS or know someone with DS who they are close to. I just want to survive this ordeal for sake of my husband and children.
This has been a difficult pregnancy to date. Intense nausea and fatigue. The worst thing is I still feel so sick and my bump is steadily growing!
If this doesn't work out we won't be having any more children. I so want to move forward and celebrate what we have already been blessed with as we are really so fortunate.

[KittyandTeal]

I'm sorry you've had bad news.

I won't get into the continuing a pregnancy stuff as, like you say, you've made up your mind.

I think your next move is probably a cvs for a diagnostic result. It is unlikely the harmony is wrong and obviously you are entitled to a termination even if this baby doesn't have T21, however, personally I think a proper diagnosis is better. It will more than likely be positive but there is a tiny change the harmony is a false positive.

I have had a tfmr. Our dd2 had T18. However, my termination was at 22 weeks so a bit more involved in that it is a longer process and you are induced for labour and labour naturally. The labour part involves a tablet taken to suppress your hormones and then back 48 hours later for induction drugs.

My labour with dd2 took around 7 hours from the first pessary to her birth. I had gas and air and morphine for around 3 hours. However, like I say, she was that bit bigger.

I have just been through the same (ish) process at 14 weeks (although it was a late miscarriage of what we thought was a healthy baby rather than a termination, the process is still the same before 20 weeks though) I had medical management, same medication except I only needed one dose of induction drugs and ds arrived within 4 hours. I had gas and air for half an hour or so at the end. I probably could have dealt with the pain but I figure why the hell should I.

Both our babies have memory boxes and photos taken. We opted to see both of them afterwards and spend so,e time with them. This is offered wether you have had a termination or a mc. The choice is up to you. We also had a memorial service and a plaque in the children part of the crematorium. We will be doing the same for ds too.

I absolutely understand the the whole 'seeing and remembering' the baby might not be helpful for you but what I'm trying to say is that having a termination doesn't mean you don't have those options if you would think they will help you.

I am more than happy to answer any questions you have. I know in my trust the cut off for survival management is 13 weeks (I missed it by a day as ds died at 13+1. However, I would have opted for medical anyway as I wanted to see him)

Again 💐 I am sorry it's such a shit time for you.

[Blackcherrysundae]

Thank you K&T for taking the time to share your story. I'm so touched by this. I'm sorry you have had to go through such pain and trauma on 2 occasions!
I have accepted the likelihood that my baby has T21. I have started to get a little too immersed in threads suggesting harmony may not be quite as accurate as company states but I'm still taking a realistic position. The worst part is not being able to access support on a weekend! Then fears about gaps between appointments and the termination being delayed longer then I am able to bear!
Things will be clearer on Monday (I hope!!) so I'll update.
Thanks again for sharing and your kind wishes xx

[lcoc2015]

I am so sorry you are going through this. Please ensure you get a diagnostic test to confirm the t21 as the harmony test is only about 95% accurate. We had a false positive for one of the sex trisomies.

[Blackcherrysundae]

Trisomy is usually 99% accurate so consultant was not sure why they reported 95%. He wondered if they had only identified placental cells rather than foetal cells.
I am hoping a professional will present clearer stats and options to me on Monday. However awful this sounds if this is going to result in termination I want to proceed ASAP. I don't wish to be pregnant with abnormal foetus for any longer than necessary as of course this prolongs torment for me and even worse the pain to foetus if termination is later. I will update. Thank you to those who have taken time to respond xx

[KittyandTeal]

I understand your feelings.

However, either way, your foetus won't be feeling pain (I did a lot of research into this after a 22 week termination, it was the thing that haunted me)

I do understand the feeling of not wanting to prolong things though. You are obviously entitled to a termination up to 24 weeks for any reason, however if you are past 24 weeks you will need a full diagnosis to be able to terminate. Personally 95% is not certain enough for me. You can usually get a cvs/amnio processed within 24-48 hours in these cases.

If the 95% refers to placental DNA it could be that you have a slightly rarer mosaic form where the placenta is affected but the foetus is fine. It's unlikely but also quite possible if it had not come back 99% accurate

[Diggum]

In so sorry you're going through this.

I had a TFMR at 12 weeks (T13).

For me it was a little simpler in that I got the Harnony result and the consulant arranged CVS for me the following week so at least I didn't have to sort that.

I did book a termination based on the Harmony result though as i live in Ireland so I had to arrange flights and accommodation too and wanted to make sure I could get it all sorted asap (it was like organising a horrendous holiday and I was so angry about having to do that, but that's an aside).

Had CVS and that confirmed things and then travelled for surgical termination under GA. Clinuc were so so lovely. Procedure very quick and physically I was fine after apart from a few days of bleeding.

Like Kitty I did a lot of research on fetal perception of pain and it was a massive relief and comfort to me to know that DS would not have felt any pain, or even been aware of anything stressful happening. He was in a dream-like state in utero and that lovely dreaminess was all he ever knew.

That's just my experience. Thinking of you now .

[Diggum]

Sorry for typos.

[Blackcherrysundae]

Thank you both. I must say I am much reassured by Kitty's research re foetus not feeling pain of termination! Thank you for that. I agree 95% is not certain enough. My husband is starting to worry about me prolonging the inevitable by seeking false hope but understands my fear re aborting healthy foetus. It seems less painful but more confusing for us as it pregnancy was unplanned and we already have 2 healthy boys so in many ways we had ambivalent feelings about having 3rd even before we received this news. So I fear these feelings may be clouding our judgement.
Diggum I wish I wasn't in position to have to chase the NHs about a plan. I'm not convinced I'll be able to get even a date for an appt tomorrow - I am anticipating having to battle with Nhs admin staff to even get a letter sent!
Fortunately I have annual leave booked so I'll be able to devote all my time and energy to this tomorrow. Xx

[Blackcherrysundae]

Diggum I just reread your message and wanted to acknowledge your research re foetal pain too. I am reassured also by your experience of your termination for DS in that it ran smoothly and you felt looked after and supported.

[KittyandTeal]

I have to say I have experienced a tfmr post 20 weeks and a late MC at 14 weeks (the medical management of MC is the same as for a termination before 20 weeks)

They have been, physically, very different. Our recent MC was physically pretty easy in terms of pain management, labour and time in hospital.

I have no experience of a surgical management to help with though.

[Blackcherrysundae]

Thanks kitty. I think I'd manage better with surgical procedure ideally without GA. I really just want out. I don't think I'll overly grieve but of course one can't be sure about how one will react emotionally..

I was just in shower thinking also about Diggum having to travel to UK to get her termination. How awful! I hope she's been back to have a more pleasant stay here. Xx

[KittyandTeal]

Yes lots of people prefer the surgical option. It sounds pretty quick and easy (as easy as these things can be)

I am first generation English, my df family are all Irish. I think it is utterly shameful that Irish women have to travel here so they can choose an option that is right for them and their baby. Terrible.

[lcoc2015]

kitty - this thread was useful to me in understanding the accuracy of the harmony tests.

www.downsyndromeprenataltesting.com/when-cell-free-fetal-dna-isnt/


I hope you guys get through this ok, my heart goes out to you in this difficult time.

[KittyandTeal]

Thank you icoc.

I have already been through the nipty testing process so I fully understand the accuracy of them.

[Blackcherrysundae]

Icoc thank you for the link (it is myself not Kitty who is the OP) thank you for your wishes.
I'm not sure what to make of the possibility of placental mosaicism bring responsible for my abnormal test. According to this paper one needs to be sceptical of the CVS test too and I fear many foetuses have been aborted following CVS results. It is very worrying if even a small prop of these were in fact normal foetuses.
I guess the safest thing to do is to wait till preg is advanced enough for an amnio test. Dare I suggest I don't think I could bear to wait that long?
I am also still feeling very sick and fatigued at 12 week mark. I have a 6th sense something is wrong with this baby. Although perhaps symptom severity reflect my age??
I have resigned self to poor results - perhaps this is a defense so I can cope!

[AveEldon]

The link above is not an unbiased site

[KittyandTeal]

Yes in terms of mosaicism an amnio is more accurate. It is a long wait. I had an amnio but then I didn't pick up a problem until past the cvs time anyway.

Anecdotally trisomy babies are pretty rough to carry. I also 'knew' something was wrong (and I don't do 'woo') I was also sick and fatigued and generally really ill with dd2.

It's a really tough decision but yes, you're right, if the 95% accuracy is due to a mosaicism a cvs is not really any use

[Blackcherrysundae]

Potap that is really helpful! I live in Herts so maybe there is somewhere nearer then South London. I'll research this option.
Kitty I think you're right re having that feeling something is not right. I am hoping a consultant will advise us sensibly re the CVS.

[KittyandTeal]

I really hope that you can get the nhs to react quickly.

Does the place you had the harmony do a cvs or amnio? I know we paid for a package that included a cvs or amnio with results in 24 hours in the case of a positive result so it might be worth checking with the place that did the harmony.

[lcoc2015]

I completely understand i wouldnt want to wait for the amnio either and would be doing the exact same in your position. I would make the decision based on the nuchal and cvs results with the harmony test. I hope you get the information you need asap.

[TheDisillusionedAnarchist]

Blackcherrysundae- I would ring your local hospital's fetal medicine unit tomorrow morning around 8.30am, the number should be on the website and ask to speak to the screening midwife. They should be able to coordinate everything for you, quicker than anyone else. This would hopefully mean you'd have the CVS initial results by the end of the week.

I think the chance of both a CVS and Harmony giving an inaccurate result would be very low indeed. I would feel confident decision making on the basis of CVS and Harmony.

[Blackcherrysundae]

Unfortunately the private consultant who did my test told me he only does the cvs on the NHS at his base in Luton. He offered to see me there so I am going to try and see a Gp tomorrow to request my care is transferred.

It's reassuring to hear all your views re likely reliability of combined harmony/nuchal/cvs testing. I'm not going pay too much attention to minuscule likelihood of placental mosaicism

I will also chase my local screening midwife as last poster helpfully suggested!

.

[KittyandTeal]

Thinking about it disillusioned is right; your screening midwife will be your best bet.

I agree, a cvs and a positive harmony are unlikely to both be wrong.

Tbh I think there is something to be said for gut instinct too. I knew one thing was wrong and as soon as the doc mentioned trisomies I just need it was T18. I don't know how or why.

[Diggum]

Just catching up on the recent posts. I agree with Kitty about gut feeling. The trisomy pregnancy felt different to me too. I just felt crap even before knowing and my skin was terrible. It sounds such a trivial reason but I really felt like my body wasn't responding well to the pregnancy.

Also my consultant explained about the limitations of CVS to me too but was blunt about the chances of BOTH Harmony and CVS being wrong (effectively, no chance), so I felt completely confident going ahead with termination based on the two.

I haven't been back to the UK since but I have to say that, weirdly perhaps, I would go back to Liverpool as a tourist in a heartbeat, purely because every person we encountered on our sad journey was so incredibly decent. Even the cab driver, when I gave him the address, "Just here for the day then? Don't worry, we'll get you there in plenty of time, best of luck now love etc etc." I was really touched by the kindness and compassion we were shown.

I hope you get sorted with CVS soon. It's so sad and stressful waiting when you feel time is against you.