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

I wonder if you had the quadruple test? That’s what the NHS offers at 16 weeks if they aren’t able to get the info the need at the 12 weeks scan (at 12 weeks they measure the nuchal fold by ultrasound and then take bloods and a risk ratio is calculated from the combination of both). The 16 wk quadruple test is just a simple blood tests and not based on ultrasound measurements.

In my first pregnancy they couldn’t measure the nuchal fold so I had the 16 weeks blood test. It’s a bit less accurate but still gives an insight into any issues. Try not to worry, am sure yours will come back fine. At age 30 your baseline risk really isn’t that high. Bit higher than a 20 year old but that’s to be expected. You could always phone them and ask for a bit more clarity if needed?

Could it be NIPT? If it’s the NIPT it’s very accurate for Downs, slightly less accurate for the other main trisomies. Overall still more accurate than nuchal screening or the quadruple test as NIPT looks at the baby’s DNA.

Thanks both of you - I'm honestly not sure, I would have been just over 14 weeks when they did the blood test, he said there is 95% accuracy for DS.
In between posting and your replies, the hospital has just called and asked me to go in on Monday morning (I'm sure she said for the results, she wouldn't talk in English) so I'm worrying even more now. Is it procedure to go in for them or would they usually tell you over the phone?
Why is the world of pregnancy full of worries, it never stops 😐

I’m sorry it’s all such a worry. Agree that pregnancy seems to be an endless stream of concerns. In the UK we get a letter with a risk ratio (eg 1:500 chance of Down’s syndrome etc) but it might be standard practice in Portugal to get your results as part of a planned antenatal appointment so I wouldn’t worry too much. Even if your results are statistically high risk then it’s still much more likely that your baby doesn't have Down’s syndrome. The NIPT is a bit different and more accurate than the NHS screening we have however.

Good luck. Maybe call the clinic back tomorrow and see if you can get a bit more info about what the appointment on Monday is about?

Thanks foreverbaffled. I think depending on what they say on Monday I'll go private for further tests if it's recommended. They seem to explain more in depth, funnily enough none of these tests or risks even passed my mind before they exclaimed how old I was at my first scan 😂

I had a my results back from the test for Down syndrome and was told I had a higher risk at 1/150 chance (99.3%).

I was then offered a choice between two further tests but both came with a 1-3% chance of miscarriage. It could be these tests that they're looking to do. Don't let the language barrier force you into something you haven't thought out properly. Have them explain it as many times to you as possible so you understand and can think it through properly!

I'm not going to lie it scared the life out of me. But after talking with my husband we thought the risk of miscarriage is higher than our baby having DS and we would love them no matter what. So we decided to not have the further tests.

Please keep us updated. Xx

Also if you need, I can email you the booklet my midwife sent to me to explain the additional tests which might help give some clarity

Firstmumdec2020 that would be wonderful if you could! Do you mind me asking why you came back at a higher risk? Was it based on age or just random? I'm going to call my husband and put him on loudspeaker at my appointment on Monday, that way he can translate for me if there something I don't understand. I think it's the language and their lack of explanation thats giving me so much anxiety, as like you I don't think the risk is worth chancing miscarriage with the further tests if that's what it is. Thank you!

Also I think we're due around the same time firsttimemumdec2020, my due date is 4th December :)

@Scotinportugal

Firstmumdec2020 that would be wonderful if you could! Do you mind me asking why you came back at a higher risk? Was it based on age or just random? I'm going to call my husband and put him on loudspeaker at my appointment on Monday, that way he can translate for me if there something I don't understand. I think it's the language and their lack of explanation thats giving me so much anxiety, as like you I don't think the risk is worth chancing miscarriage with the further tests if that's what it is. Thank you!

No problem! Mine was due to the measurement of fluid which was 2.5ml. The midwife said I'm just on the cusp of it. But when you hear higher risk your mind goes into overdrive!

What is your email and I'll send it across x

@Scotinportugal

Also I think we're due around the same time firsttimemumdec2020, my due date is 4th December :)

Ahh amazing. I'm due a few weeks later on 27th Dec xx

Christmas baby :) amazing! My email is [redacted]
Thank you so much xx

• Note from MNHQ - we've edited this post to remove the email address. It's much safer to share emails via our PM system.

Sounds like you definitely need your husband there by phone to help with the language barrier, as these things are complicated enough in your first language. I had a genetics blood test done privately early on with my third dc as I was 40 and wanted to identify any issues early on. It is called the Harmony test or the NIPT test and may be what your ‘genetics test’ is. It came back high risk for downs, as did the standard NHS measurement of the nuchal fold some weeks later. So I also had the test where they sample fluid from the placenta (amniocentesis). As others have mentioned, it comes with a small risk of miscarriage. It came back clear. The thing I found useful to understand is that the blood test can only ever be an assessment of risk, it doesn’t give a definitive answer. The amniocentesis year, if it comes to that for you, does. It’s likely mine came back as high risk due to my age with my third dc, as I was 40. But they may have different protocols for that in Portugal. Good luck with your pregnancy either way. Definitely get your husband on the phone, these tests can be stressful and and can also be quite nuanced in terms of the risks they are presenting you with. So you need to understand them properly. I had mine on my own on in unexpected rush so I feel for you also being on your own with hearing the info.

You’re welcome OP! Good luck for Monday, using loud speaker sounds really sensible. I looked up the baseline risk for your age and it’s around 1:900 so it’s so unlikely anything will come up.

My baby is due December 3rd so close to yours :)

Amazing, we're all December due dates! How are you all feeling at this point?
Thank you for all your advice, I definitely feel much more informed now and ready to ask the right questions no matter the outcome! Will keep you all updated xx

Op great to see the support you are getting on here. Please don’t hesitate to consult uk charity ARC as well - antenatal results and choices. They have a helpline you can call

My pregnancy is going pretty well apart from losing my appetite. My jeans are starting to feel uncomfortable too but I don't seem to have a bump yet. How have you been feeling?

I've gone the complete opposite way, I literally haven't stopped eating since my sickness stopped. Was pretty rough until 12 weeks. Other than that i feel relatively human apart from super swollen feet, but it's also shot up in temperature over here to about 30 degrees every day so could be that! A little bump has definitely appeared over the last couple weeks :)

Are you going to find out what you're having? They tell us really early here, we already know it's a boy :)

@Scotinportugal

That is soon! Aww a boy how amazing!

Yeah I'm going to find out. My mums wants to throw me a gender reveal party so will find out on 15th August. I think it'll be a boy though. X

@FirstTimeMumDec2020

I think when you have a feeling it's always right, I had such a strong feeling it was a boy too. Let me know when you have had your gender reveal! X

@Scotinportugal

I will do ☺️

@Onceuponatimethen

Op great to see the support you are getting on here. Please don’t hesitate to consult uk charity ARC as well - antenatal results and choices. They have a helpline you can call

Thank you! I didn't even know such a thing existed. Definitely feel like I have the right support now, this forum is amazing!

I know! Have had so much help here over the years

Hi ladies-just wanted to update you/rant. I went to the hospital early this morning and god only knows how but they had called and scheduled me in by accident, doctor agreed to take me in and check if my results were back but they weren't 🙄 up to another 2 weeks wait...
I saw a different doctor and nurse today, and it turns out the reason they're screening me isn't based just on age which is what the last doctor told me, but because of some results in my first set of blood tests before my 12 week scan. (He wouldn't tell me what/why, and was being rude because I had asked to speak in English so I understood)
Feeling upset and anxious again, partly because of another wait, and partly because if it does come back as high risk doctor said I'll be too far on for an amnio. The care here seems to lack from the NHS in the UK and the experiences my friends and family have had :(