What happens now?

[MelonB]

I've just had the results back from the harmony test which has given me high risk of having a child with Down syndrome (99%) Can anybody tell me what happens next. I have my anomaly scan on Friday, so I understand that will be able to highlight any physical defects.
Will I have to have a cvs test done? Is it compulsory?
Blimey, what a day!

Hi there, I hope you're doing ok. I'm sure you're feeling a great mix of emotions. Although I've not been in your exact situation, I didn't want to read and run.
My understanding is that they would want to confirm the Harmony with a cvs or an amnio. However, it is obviously your choice and if you are continuing with the pregnancy then you may not want to take the risk. In terms of the next scan I'm not sure whether you would wait till 20 weeks, I think from what I've read that you would do.
Wishing you all the best.
x

Thank you for your reply and your kind words.

None of the tests are compulsory.

Have a think, if the results of any further tests are irrelevant then you don't need to do it.

It's a tough time x

Oh Melon I'm so sorry 😞

I think we were both on the same TTC over 40 thread and I left as my pregnancy was found to be high risk for trisomy 18 and I subsequently had a termination at 17 weeks.

They do like to confirm the Harmony with a CVS unfortunately. I think you need to decide if you wish to continue the pregnancy regardless. If you do then I would forget the CVS and wait for the 20 week scan to see what challenges the baby has. However if you know you don't want to continue the pregnancy they probably will pressurise you into have the CVS before they let you opt for medical management or surgery.

I suspect if you're over 12 weeks they will tell you your only option is medical management but that isn't strictly true. BPAS or Marie Stopes will likely have a contract with your GP/ hospital but they will need to refer you on to them. You have to push a bit and fill in forms but for me it turned out to be the best option as I've bounced back really well and physically I'm really well three weeks on.

Massive hugs 💐💐

Thank you. That's kind of where I'm at at the moment Cup....I have my 20 week scan on Friday, so I don't think having the cvs is going to add anything other than unnecessary stress to the mix.
I'm sorry to hear you've had a tough time of things Sleep, but am glad you're bouncing back (at least physically) well.
Hugs back

At 20weeks it would be an amnio not CVS (sampling amniotic fluid not placenta) but I think the procedures and risks are very similar. As PP say you don't have to do anything. If you are sure you want to go ahead with the pregnancy either way they may suggest they do an amnio at a later date in the pregnancy. The main risk for an amnio is that it will trigger premature labour which would be a miscarriage at 20weeks but at 32weeks+ would be a preterm birth. I know some people feel a late amnio is pointless and you might as well wait until after birth but a definite diagnosis prebirth would give you some time to process so you can focus on the baby post birth.

I had an amnio at 22wks. The thought of it was worse than the actual procedure ifyswim. The risk is thought to be much lower than the 1in100 quoted esp if you have an experienced doctor. However it is entirely up to you and I am sure you know that the NIPT is thought to be very accurate for T21. Have they said anything about you having a fetal cardiology scan? I suspect you might be sent for one after your anolomy scan either way just to rule things out. It is basically another ultrasound but a very detailed one looking at the heart.

Forgot to add .

The Harmony will say on the report the level of accuracy. Mine said 99-% certainty, there really was no need for additional testing.

*99%

The tests are very accurate...but generally its not the tests that are 1% inaccurate its certain conditions biologically that make them fail. Sorry - I got all geeky when I was researching mine. NIPT tests and Im pretty sure Harmony is the same as IONA which I got...measure placental DNA not the babies. Generally, the placenta has the same DNA as a baby but occasionally it can be different...and if the placenta is showing signs of a trisomy there are rare occasions when the baby's DNA is different and in fact not affected. OP I dont want to get your hopes up as this is rare but just saying that is why they suggest a diagnostic test afterwards cos that test will definitely look directly at the babies DNA.

My other concern is that you weren't offered any counselling with the result you got. I thought that was standard. Did they call you in to discuss it? There is a great website too called ARC www.arc-uk.org/ which is really helpful. You can call them to talk through where you are right now too. They will have loads of helpful links.

That's really interesting to know EEE (don't worry, I'm not going to pin my hopes on that being the case, but useful to know anyway).
I have my anomaly scan tomorrow and I'm booked in with the consultant afterwards, I presume to run through the options.
My husband took the original call and they did mention the arc website to him. I informed my midwife yesterday and she was great (and arranged the appointment with the consultant) so I don't feel I've been cast adrift in terms of counselling. I'm just desperate for tomorrow to happen so I can prepare from there.
Thank you all for your replies.