Worried about blood test for Down syndrome

[Scotinportugal]

Hi all! I'm just looking for some reassurance I guess. I'm 30 years old and 16 weeks pregnant with my first baby. I live on the Algarve in Portugal. I've had my first trimester scan at 14 weeks, and based on my age the doctor wanted me to come back for a genetics blood test as I was considered intermediate risk of having a baby with Down's syndrome.
Between the language barrier (the doctors are really reluctant to explain anything in English) and the fact that because of Covid I can't take my husband in (who is Portuguese) I'm really stressing about these tests. It was a simple blood test and I should have the results next week - but I've read that they should be doing scans and other tests to determine the risk. Has anyone else had a simple blood test for this? Or know how accurate or otherwise it is?
Sorry for the rambling

Hi OP, you mentioned your husband is Portuguese, perhaps you could ring the hospital and say who you then put your husband on the phone to speak to them. He could get a bit more clarity on what exactly is going on with your bloods and possibly also arrange for special permission to come with you for future appointments because of the language barrier.

I'm not sure how feasible that is as I don't know what the rules are there but worth a try maybe?

Hi op the thing about dates doesn’t make much sense. My understanding is that you can have amnio up to 20 weeks and it isn’t done BEFORE 16 weeks

Is it worth considering flying home to get this sorted? You could fly back now and even after 2 weeks quarantine would still have time to get amnio

If you can afford it there is amazing private care at the fetal medicine centre on Harley street - run by the top nhs scanning expert. All profits go to his nhs centre

@Onceuponatimethen

Hi op the thing about dates doesn’t make much sense. My understanding is that you can have amnio up to 20 weeks and it isn’t done BEFORE 16 weeks

I don't either 😑 they told me they won't do it past 18 weeks. I just feel so anxious about all of it, there seems to be so many mistakes and each doctor contradicts the last and won't explain the whys etc. I think at this point we have to consider going back to the UK as I just don't have any faith in them whatsoever

Oh @Scotinportugal I’m so sorry you’ve had another crappy experience. I really don’t understand what they could have found in early blood tests which would increase your risk of Down’s syndrome - really bizarre. Do you remember what those initial blood tests were checking for? The NHS ones are just to rule out anaemia and screen for certain antibodies and things of which I’m pretty sure none relate to chromosomal issues (please someone correct me if I’m wrong!)

I’d ask your husband to call tomorrow for clarification. This isn’t fair at all.

I think that sounds like a very good plan @Scotinportugal. Probably worth checking what the wait is in the uk at the moment before you fly back and seeing what the options are

So sorry you’re having all this stress OP. If you can’t fly home, can you record the appointments on your phone (voice memos works a treat) and play them to your husband afterwards for him to translate?

Thanks ladies ❤️ I'm going to get DH to call tomorrow and demand some sort of explanation, then we'll go from there.
I've checked my list of initial tests and right enough I don't see any that could could be indicators for chromosomal abnormalities!

Good luck x

How frustrating for you.,Any private hospitals in your part of Portugal where you could access care in English?

I’ve been thinking @Scotinportugal and might be worth seeing if you can access the NIPT test privately over there. Most results come in a week (over here anyway) although who knows if that’s what your doctors have already done? Good luck for phoning today.

Yes NIPT is offered by lots of private clinics. If its easiest to get a flight to London then Fetal Medicine Centre did mine and were amazing

I would call them and explain the position you are in

Op, also maybe call these people

www.grupohpa.com/en/facilities/genetics/

No clue if they are any good but they are private, in Algarve and offer Downs testing.

Maybe worth calling and seeing what they can offer you and how you then get amnio and what is the latest date if that were needed.

Plus if you have to go private for the amnio too and if so how much that would be

Xx

This is the leaflet for their test:

www.grupohpa.com/uploads/files/flyer-pre-natal.pdf

Maybe get your OH to translate this?

They do phone
/video consultations at the moment:

www.grupohpa.com/en/contacts/

Hello all!
Thank you so much for the advice and numbers!
After a long morning of being cut off on the phone and not being able to get through to the maternity department we finally have an explanation 🙌
The reason I've been tested which is just a simple screening, is because of a couple of factors, my age being 30, and also that my HcG levels, and PAPP-A caused them concern.

HcG MoM 2.712
PAPP-A MoM 0.495
NT measurement 1.10mm

These factors gave back a risk of 1/407, which falls into intermediate which is why I've been screened. Had they just explained or given me my notes it would have saved a lot of heartache, although not sure from these how worried or otherwise we should be. We still have to wait up to another 2 weeks for the results of the screening, but in the meantime we're going to book both a harmony test and amniocentesis privately, so depending on the results we can choose either or cancel.

Feel hugely relieved to at least understand why, and doctor was very apologetic to angry DH and couldn't understand why no one had given me my notes or explained it. Don't hold out to much hope for future appointments in all honesty given that it's a different doctor/nurse every time.

Again thank you all for thinking of these things, and giving me options to try! Would be lost without this support xxx

@Onceuponatimethen

This is the leaflet for their test:

www.grupohpa.com/uploads/files/flyer-pre-natal.pdf

Maybe get your OH to translate this?

We are going to book through this company, read some reviews after you posted and they look good! Thank you ❤️

@Scotinportugal I would go for the harmony first. I had mine on the monday and results were back on Friday, with a less than 1/10000th chance. Its very accurate at more than 99%, and rarely gives a false positive. If you got a high risk on this you could then go for the amnio. Good luck!

I’m really pleased you finally got help op and please keep posting here through testing! We are all here to support you.

I’m so pleased you got some answers. I’m no expert but your NT is lovely and low so I imagine everything is fine. I’d do the NIPT for peace of mind and only go for amino if it’s comes back high risk. Your current result would be considered low risk over here so that’s reassuring too. Keep us posted!

There are really good video explainers on the fetal medicine centre site which explain exactly why age (under 40s) is less of a risk factor than we might all have thought xx

@Scotinportugal
So glad you finally got answers! Such a shame it wasn't easy but hopefully the rest of your pregnancy is stress free and you have a healthy, beautiful baby at the end of it ❤️ xx

the harmony test? I had it at 9 weeks. It’s just a blood sample. I was 28, it will tell u the gender too!!!

Hi ladies! How is everyone? Hope everyone is good and healthy

After another loooooong week of waiting for a phone call DH decided to chase them today, I think he got a bit sick of me stressing. After over an hour on hold and 5 wrong departments he finally got through to the maternity ward. They claim to have tried to call me (impossible I obsessively check my phone day and night) but the results of my screening are in, as it was the receptionist on the phone she wouldn't go into details but said it has come back 'good and clear' - hoping she means low risk, and they are sending me the results in the post. Booked my 20 week scan privately so a bit of relief as my friend has been there and said they're great and take their time explaining everything. Xx

That is brilliant news op - is that for the harmony/nipt or the original tests?