Down syndrome screening results

[itsamumlife]

Hi all, I have just joined and if I’m honest, just struggling to know where I can turn. So I’m from England, I had my bloods taken for screening of down/Edwards/platau syndrome and ultrasound two days ago. The whole experience was shambles. There were 3 people in the room, two trainee and apparently the other was quite new too. The scan took ages, they weren’t saying a thing and I didn’t get to see the screen. Anyway, I was told everything looked good, healthy heart etc. The male sonographer then said to me, I just have to make you aware that the transnuchal fluid behind the neck was measuring 2.8mm which is just under cause for concern (3mm) but said to be aware. Of course I was scared at this point but I was sent away.

They then phoned me after about 10 minutes of me leaving, to ask me to go back as someone needed to go over the results with me. I was called into a little room and told there was concern and the man that advised me was incorrect. Anyway, they spoke about the risks and then said as I’d waited around they should be able to check my screening results. The midwife walked out, eventually came back in and said she’s really sorry but my results have come back very high. Infact a 1 in 8 chance of Down syndrome. I can’t even explain the way my heart sunk in that moment. I’m 27, two healthy happy no concerns children at home, how could this happen 😔

I then returned the next day to give blood for further testing, which I now have to wait a week for the results. I have never felt so lost, so sad and so beyond myself. How could my result be this high? It seems like it’s an impossible number to come back from. I have seen people say they had 1 in 50+ but no stories of people with as high a chance as mine. I’m terrified. I have two children to think about, my other half, myself, our family our lives. Never in my worst nightmares did I think this could ever happen 💔

Have you considered a harmony test? Some might say costly, but definitely worth the reassurance - either way. I am 49, i was 46 when I had my son - the NHS were almost resigned to the fact that i was high risk, however because I had the harmony test they refused me their screening. 1 harmony test later, and even though the blood test was inconclusive, not enough of baby present in my blood, they gave me a risk % of things not being straight forward that was really low and i just went with that. My son is 2.5 years now, and no complications at all. No haters please about my age x

I'm assuming the further bloods were for a Harmony test. OP the same thing happened to me with my second son and thankfully the harmony came back after 10 days with a negative result for Downs Syndrome and I went on to have a totally healthy baby boy. Yes, 1 in 8 is high, but the nuchal fluid is absolutely not an accurate measure of whether your baby has Downs or not. It does take other factors into account such as your age and your blood test results, but these separate bloods you've had are presumably for the harmony test which is far more accurate. Try to stay positive until you hear back from them. If it comes back high risk again you'll be offered an amniocentesis or cvs which take a sample of cells directly from the amniotic fluid or the placenta and that will give you a very very accurate idea of what the results are, however there is a very small risk of miscarriage with these tests. If you really can't wait a week, you can ask for an amnio or a cvs now and you'll get the results almost Instantly. It is a risk though, it's not completely without complication like the harmony test is.

Until then, just try your best to think positively and hope for the best. There's very little else you can do.

I believe it’s the harmony test/cvs if same thing, that they have just taken blood for. Apparently it is 99% accurate, I just struggle to see how it can come back otherwise, when my results are 1 in 8 😐

No so I wasn’t entirely concerned about the fluid as that could have changed, it’s the actual screening result. So my hormone levels and hpa or something I believe it’s called, that’s what brings the results and mine was 1 in 8 chance. Just seems crazy 😞 can’t believe it! I chose the cvs because there’s no risk, but it doesn’t take away the fact it’s a horrible wait, and then what then happens afterwards. I feel like I’m waiting to hear it again, which feels unbearable already. But thank you X

You do have a 7/8 chance that your baby is unaffected, or a 87% chance of baby being unaffected if you like percentages!
Remember this is a face value result. It truly means there is a 1:8 chance of your baby having DS. It doesn’t mean “this risk of your baby having DS is 1/8 which is so high that actually your baby must have DS” which is what a lot of women do think. You have a 90% chance of walking away from this with an unaffected baby and everything continuing as you anticipated.
best of luck x

So true, thank you so much. It’s the way the midwife was speaking to me about terminating and kept telling me she’s so sorry and she doesn’t think the result will likely be different etc. So I’ve had nothing but negativity to go off. X

Try to stay positive and good luck with your results.
I know this result is scary. I have a child with Down syndrome and we all cried bucket loads when we received her post natal diagnosis. As I was under 35 they wouldn't test for it. All my scans were perfect and was told everything was fine. All I can say is if your child does have Down syndrome try not to worry too much.
My child is doing really well and I now look back and wonder what all the tears were about. She is a cutie pie and is more independent and determined than her big sister who would happily be lifted and laid lol! There is so much support and community spirit with families living with ds and a fantastic social life too. If the result isn't what you hoped for, go on to Facebook, there are lots of support groups there which are a great help.

The NIPT/harmony is extremely accurate for downs - fingers crossed for you! My risk was just over the 150/1 so I wasn’t offered the NIPT - at least you’ll know 99.9% either way when it comes back x

Different situation to you in that my baby had markers which put our DS risk of 1/4. In my experience midwifes don't handle these situations well at all, as you say talking to you about termination etc.

My baby is healthy, try to stay positive. I also did my own independent research into Down syndrome and decided we wouldn't terminate.

My result was 1/9 and I thought exactly the same as you - had to be positive. It wasn't.

Thinking of you

Do you mean your results didn’t come back good? 😞 so scary isn’t it!x

Report the midwife. They need training.
It's inappropriate and insulting to say sorry about a risk of Down's syndrome or a diagnosis. It's not a tragedy.

This is awful the way it's been handled. Are you saying that they took your bloods, and did your 12 week scan for your transnuchal measurement and gave you the 1 in 8 result in a conversation just 10 minutes or so after the appointment where they took the bloods? Sorry if I misinterpreted that but if that is the case then they could not give an actual number as they cannot calculate this risk alone from the transnuchal measurement and there is no way the blood results would have been back. I would definitely write to the hospital once you've got your head round what is happening as this is not an experience you should have had to endure.
I really hope you get the more extensive blood results back soon and the outcome is what you hope, 1 in 8 is a high statistic but like many PP have said, still nearly a 90% chance that your baby will be unaffected.

I went through the same thing in May 2021 with my daughter, I had second trimester screening which came back as 1 in 14. I cried non stop and barely ate or slept for 2 weeks until my NIPT came back low risk for everything. I subsequently had my daughter at 28+6 due to severe pre eclampsia and I was so upset at myself for spending those two weeks crying when I should have tried to enjoy my pregnancy.
I know how scary it is, but you have an almost 90% chance everything is perfect with your baby, try and focus on that, and look after yourself. It’s really hard, but these tests are very unreliable and tbh e likelihood is baby is fine. It wasn’t until I was out the other side I looked into the test and realised how unreliable it is. I’m currently pregnant with my third and opted for the NIPT test privately to save myself going through the NHS testing again and causing myself unnecessary upset x

Your experience sounds so unprofessional and unfair to you. I'd definitely be raising a concern about your experience. Hope you can get through this week OP without too much worry.

It doesn’t sound like you’ve been encouraged to make an informed decision. It seems they haven’t explained anything at all

@itsamumlife Did you get your results back? Honestly it sounds like an awful experience. Just been through the wait of my NIPT results. Was given a greater than 1 in 5 chance and they were specific about that possibly being as high as 1 in 2. My blood results were off the scale and I’ve just turned 38 so a lot older than you too. I got the call yesterday and with utter disbelief it’s came back low risk. My head is still spinning. Just wanted to give you some hope in case you’re still waiting x

Midwives and trainees really require more training around this so as not to terrify and upset mums and dads. The brief should be, "our risk estimate is x, this estimate is based on x,y,z, that means we would want to do further testing to get a more accurate picture of whether or not they are likely to have a chromosomal condition, when these results come back we can talk about what they mean and what steps you would like to take based on that".

A jump from 1 in 8 (as another poster said, 87% likely to NOT have DS) on a fairly unreliable test to immediately talking about termination is in my opinion unnecessarily terrifying and also really insulting to the lives of people with downs syndrome and those that love them.

As @KellyMarie84 has pointed out, the change from one set of test results to the more accurate test results can be huge!

Hi @itsamumlife, just checking in to see how you're doing. Did you get the results back in the end?

I’m currently on my sixth pregnancy after the birth of my now healthy 4.5 year old. I wanted to write my story to help myself through this difficult time.
In July 2020, during COVID I had my first MMC at 12 weeks, I was devastated after having had such an easy pregnancy with my first.
We got pregnant again, I was 36, and our NHS screening came back with a 1 in 14 chance of Downs. NT 3.3. HCG raised, PappA low. I had an anomaly scan at 16 weeks and all looked normal, the consultant was convinced the baby would not have Downs. We had an amnio. Sadly, we were the 1/1 and had a termination, induction and NVB. Very hard decision but was right for us.
The following year we got pregnant again. I had a CVS at 12 weeks all results clear. We were ecstatic. We had a 16 week scan for reassurance which revealed the baby had a severe congenital heart defect. The nightmare came true that while nobody should ever see a bereavement suite once, we were there for the second time, terminating a much wanted baby.
Two miscarriages later and we are pregnant again. I am 39 just. Our NHS screening has come back high chance for Downs, 1 in 39. There is a 1% chance we would have a second baby with Downs but I can’t help thinking we are always on the wrong side of the statistics. Our NT is 3.1, HCG very mildly raised, PappA normal. I am simply beside myself waiting for NIPT results. Will I feel safe with a 1% risk, with a low chance result? Will I miscarriage if I have an amnio? Will I see that bereavement suite a third time? Life has been so cruel. While I appreciate how lucky I am to have my darling daughter, I’m so sad I seem unable to give her the sibling she so desperately wants. She has even asked Grandma if she will have a baby for us. Life truly is sh*t sometimes! I worry I will always feel incomplete. Thanks for listening if you got this far. xx 😢

It doesnt sound like you have had the harmony test as you get a result.

It is standard to have a blood test and scan and you get a result based on that. Mine was 1:4 risk of DS and had a CVS and he was fine.

You need to ask for the harmony test...or get a CVS for a definitive result

Yes awaiting the NIPT (Harmony) results. Will have amnio if high chance on that. Can’t have CVS as posterior placenta. We are well rehearsed with the routine. 🤦‍♀️

Hi, just thought I would share my experience. I have 4 children already, my eldest being 20! I am having a surprise pregnancy at 42 years old. We were given the NHS screening test which came back at 1:18 and NF was 2.99 mm.

I refused amnio due to risk of miscarriage and opted for NIPT instead Came back as high risk. I have researched and researched and researched and accepted baby will have DS. We are under care of fetal medicine and baby is doing fabulous. Currently 30 weeks. I experienced fear, anxiety, cried lots etc at first but have now accepted it and am actually excited. She is just a baby at the end of the day and will just be a different journey with this one. I am determined to make it work and for her to have a full and happy life xxx

@hamjul

Why hate? It's great. 🙂

@ringsaglitter

thats very kind, i said this at the time as a lot of negative comments were on here about older mums and choices etc. My boy is 3+yrs old now, and healthy and happy and i just wanted, at the time this post was up, to give advice on the tests and results that i had xx