hey got a call today to say the NP test at booking scan showed a high risk of Down syndrome (but low risk of the others)
I go for the NIPT on Monday to see what that says but does anyone have any experience of this that can reassure me as I’m of course freaking out!!
They said anything under 1 in 150 chance is considered high risk and my result was 135
I can see the babies Nuchal Translucency is 1.8mm from my scan records which I think is in normal range? I know my age 42 goes against me in the calculation but what could be showing in my bloods or other factors?
just when I was calming down a little as well 🤪
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Twiglet2
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Hi lovely, I’m so sorry to hear you are facing this stressful situation 🙁
A friend of mine recently found out her baby had down syndrome . She told me there were lots of things on the scan which made them more certain that the baby had it. It was things like a chamber of the heart was missing, there was something unusual with the nose. I’m afraid I can’t remember exactly what it is but I wonder if they can do a scan and check anything like that? Have you had the private test done or just the nhs one? As I think the private one is more accurate.
Hi thanks lovely- I think they can’t do those types of visual ones until 20 week scan (I’m only 14 weeks). The nhs standard one is the NP and it’s the one that’s came back high risk today so their next step is the NIPT one that I have on Monday. That’s the same test as the private ones ‘harmony tests’ is there other name. but you are only offered it if you are high risk on the nhs if that makes sense so the one on Monday is like 96% accurate so about as close as it gets without being invasive and carrying any risk of misscariage. I hope your friend is okay xx
you must be very worried. I am sending you all the positivity I can. a friend of mine told me recently that when she was pregnant at 37-38 got a very high chance result, something like1 in 30 or there abouts . She went straight for cvs (I think that's what is called) one of the invasive tests and got back normal results. The baby now is a very happy 4 year old developing without issues.
hiya I may be wrong but I’m pretty sure age can automatically put you at higher risk on the tick box form. I’ve heard of quite a few people being put at high risk but the next test showed everything was fine xxx
Hey yes you are right my age factor would defo be a contributing factor to the score for sure! But I think that would also be true for the other 2 trisomy 13 and 18 but they came back 1 in 5000 chance so there must be something in my bloods too pointing to trisomy 21 as from what I can work out from the Nuchal translucent measurement of babies neck that looks okay 🤔 google is not my friend 😬🫣 but I did just read that some places also put IVF pregnancies as a risk factor in the calculation! xx
yes this exact situation happened to my friend but when she went for the further bloods, result was low risk. It was her age (43 years) skewing the first risk result. Good luck , hope Monday brings reassure 🍀🍀 xx
I had the same and am now 36 weeks pregnant. We did PGTA with our embryo so I knew chances of any major genetic issues were low.
Initial NHS test came back as 1:6 for DS. I'm 42 so this massively skewed the result. One of the blood markers (I can't remember the name) were high but I read that IVF can elevate this reading. All others markers were within normal ranges.
Did NIPT through NHS (a genetic counsellor should call you) and that came back as low risk. I tried explaining that we had PGTA but the nurses said it's just a case of putting the results into a computer and seeing what comes back.
I went into a Google spiral too but didn't need to worry xxx
Hi, I had a high risk result (1 in 150) but it was mainly based on my age (I was 40). They hadn’t taken in to account that my embryo had been PGTA tested but I still freaked out. My sister who conceived naturally also had a very high risk result (1 in 49) and was put on aspirin, she’s 38. Both of us had NIPT and our results were returned as low risk. I have everything crossed for you, I appreciate what a worry is it. Good luck for NIPT, will be thinking of you. X
thank you so much! The PAAP-A result appeared on my app this morning and is 2.89which is higher than average but I believe it is when it is lower than average that they link it to T21 or, if that’s all clear, on NIPT prescribe aspirin 🤔 I was also in clexane for the first 12 weeks so no idea if they would want me on aspirin now 🤪 I really just wish the results didn’t take so long! Xx
My PAPP-A result was much lower than normal and yet my screening result was 1 in 900 for T21 and one in 5000 for the other two. The donor is in her early 20s. I read online the same thing you did about low PAPP-A and T21 but the consultant on the phone said that it doesn't tell anything about the baby.
The midwife said basically the PAPP-A is something to do with the placenta and they prescribe aspirin which I was already on because of being over 40. The midwife also said it is only the last 2-3 years that PAPP-A has been given attention.
Thank you ☺️ I wasnt actually expecting it to be high given the result I thought it would be low! Now I’m in a whole new worry path of high PAPP-A in dictations around placenta!! 🤪 I think my age must be the biggest contributing factor here! Xx
My PAPP-A was 1.08. I was on blood thinning injections until 12 weeks but because of my age they said I need to take aspirin from 12 weeks. So I’m still taking 150mg every evening. Xx
Hi there, I had this too. I got the call to come in when I was pregnant in 2022 over the Christmas period!! On the call they said I was high risk and needed to come in to the hospital for a chat. Well, I think I cried the entire journey to the hospital. It turned out they wanted to discuss the way ahead with regards further tests and what we would do if our baby did have DS. We opted to have a NIPT, not because we wouldn’t have had the baby if it came back that she did have DS, but to prepare us. We had such a journey to get her, and she was precious no matter what. The tests did come back low risk though, and she was absolutely fine. But it’s very scary, and of course will give you so much anxiety when you have to have further tests, and whilst you wait for your results.
Thank you I’m having the NIPT on Monday and then the week or so wait for the results and I just feel so drained by it all already tbh I’ve no idea how I will get through it as the thought of something being wrong with the baby is heartbreaking xx
I’m so sorry you had to go through this. The same happened to me earlier this year at the age of 41 and I am currently sitting with a healthy and happy non downs little boy in my arms.
I had had PGTA testing carried out on my embryo but was still freaking out. The nurse that carried out my NIPT test explained to me that the original test was based on an algorithm rather than the blood that was taken from me and was heavily weighted by the fact that I was over 35.
To be honest when I heard that I was more angry that they caused me unnecessary worry than relieved.
I hope the weight goes swiftly for you and you get the result you desire. Xx
Thanks lovely I knew the algorithm thing as I’ve had the test before with my wee boy but I was 39 then, same BMI, same IVF risk and he was low risk so god knows what is going on this time 🤪 you are right I kinda wish I hadn’t had the test at all now with all this worry!! Xx
Thanks lovely the first thing I done as a mathematician is put it in a % 🤣🤣🤣 as that does usually help me! It helped my wife when I told her but I’m a riot when it comes to worry and this pregnancy that no amount of rationale sanity can help lol 💜🤗 the stories of others having clear NIPT is absolutely helping though!! Makes you feel less alone and out of the norm to hope for it to be okay xx
We had this and received a 1 in 2 probability. We then had NIPT which confirmed high risk.
We loved our baby and continued the pregnancy, but sadly he died (IUFD). A post mortem confirmed he did have Downs Syndrome.
Very personal decision of course, but I would have very much liked to bring my boy into the world. What really helped us was looking into Instagram accounts of families with children with Down's Syndrome. They're capable of so much more than anyone ever gives them credit for. Many people have outdated views or understanding of their abilities.
Always here if you want to talk, whichever way this goes. And no judgment if you wouldn't want to keep it. But just please know, Downs Syndrome is not something to be afraid of. No baby comes with a guarantee of no health problems etc. x
I’m so sorry that must have been heartbreaking 💔 😢 my wife supports people with special needs, including Down syndrome, and my mum teaches in that specialism too so they are both unfazed completely but I would be heartbroken 😢 I am not worried about a learning disability in any way (although you never want to see your child struggle with anything of course) but more the physical conditions that are associated too both before and after birth. I just think I would be so terrified! Thank yoj for sharing your perspective xx
They take into consideration a number of things when they come up with that percentage, so age would've factored into it.
I actually know 2 couples personally who tested low risk and ended up having a child with downs. And my gran also gave birth to a baby with downs when she was only 29 (this was before any testing was available). You really can't tell with absolute certainty whether the child has downs or not, even with all the testing. I will say that my gran, who is now in her 80s, and those couples I know wouldn't trade their children for anything now - but it was a surprise!
that is very worrying though for the 2 people you know that even a low odds result could be so wrong as everything I’ve read online from scientific research shows a fairly accurate prediction for low risk not having the disorders… now I’m worried my other 2 results for T18 and T13 mean nothing too! 😢 I wonder if they will also test for them in the NIPT Monday 🤔 xx
I don't think you need to be worried. There's always a risk with every pregnancy. None of the tests are 100% accurate. There's also stories of people who have been told that their baby has a medical issue and they've been born absolutely healthy. The tests give a good indication, but of course they can never be 100% accurate.
Like I said it was a surprise for my friends because they weren't told that anything was wrong, but they wouldn't be without them now. They are also younger so I'm sure their age, when it was put in the algorithm, influenced the results.
Hoping everything is fine and try not to worry (easier said than done, I know!) Xx
please stay away from google, at this point it will be your worst enemy ! I had a private NIPT following my NHS screening purely for piece of mind - I wasn’t classed as high risk but my numbers were closer to high risk (1 in 190) because of my age & also low papp-a - it’s a computer generated algorithm that when one factor is slightly off skus it all (age)
your NT is good at 1.8mm ! That’s really promising - 🙏🏼🤞🏼 all will be well, keep busy over the next week x sending lots of love x
I have gone through a similar situation…. actually twice! When I was pregnant with my nearly 2.5 year old son, I was told after the 12 week screening test that my risk for DS was so high they wouldn’t even recommend the NIPT but but amniocentesis… I had had a long journey with many miscarriages and I had lost my first son in the second trimester so I refused to have the amniocentesis and did the NIPT, which came back as low risk. My baby is a very happy healthy baby with no DS. For me personally, I didn’t want to take any risks with the amniocentesis as I was traumatised by the loss of my first boy. I had very low PAPP-A (which I later found out was related to the risk of pre-eclampsia!) and very high HCG. I also had other abnormal markers on my 12 week scan but baby was and is absolutely fine.
Now I am pregnant again with my very last embryo (a grade C embryo, by the way, and poor quality) and my 12 week screening test also came back as high for DS. Although I am 40, this time the risk was high but not as high as last time and they let me do the NIPT. I only found out yesterday that they came back as low risk.
Also, these last 2 embryos we’re PGT-A tested and I had told them so, but I was told there can be errors when you PGT-A your embryos, so they were treating the pregnancy as any other one!
The worry never ends, does it?! I did have a very thorough ultrasound scan done privately and checking for many different markers for possible chromosome abnormalities. Please feel free to PM me if you want to chat ☺️ Thinking of you xxx
Thank you so so much for sharing your story and I feel the same as you about the invasive tests. I was wondering if somewhere would do the scans privately for other markers and at what gestation they can do that actually so I will look into that. I’m so glad your little one didn’t have any issues and you have had a low risk again this time. Wishing you a happy healthy pregnancy I can’t imagine how much harder it must be after a 2nd trimester loss but also so so precious 💜 xx
Hi lovely ultra sound direct do the a NIPT scan and blood test for 400 don’t no if there’s one near you or if that’s the test your looking for . Hope everything works out ok for the little one lovely your so nice to everyone on here you your wife and little boy deserve your happy ending good luck with everything xxx
Thanks lovely I’m getting the NIPT blood test today on the nhs on monday so it’s just a scan I would need but will ask the hospital on Monday if they are planning on doing it given the high risk result and if not I will try and find an ultrasound direct that’s really helpful 🤗 xx
Thank you, my lovely, and I hope everything goes well for you. I truly believe all babies are special but some are a bit more special than others, especially after a long infertility journey and so much trauma and loss. I have seen your journey and truly admire you for how much you have persevered! Babies are precious and I do not take anything for granted now 🥰 Lots of love xxx
oh I’m so sorry to read this. I can totally relate as had the exact same stress with my wee girl. I had low PAAP-A & then I had the dreaded call I was high risk for Edwards & Patau’s syndromes.
My numbers were similar to yours so I tried not to worry too much. I went on holiday twice and had the NIPT in between. I really didn’t want to even go as was far too devastated and emotional.
When I had the phone call to say the results of the NIPT were low risk I burst into tears. What a worry!
My gorgeous wee girl is now a happy, healthy 8 month old. I worried about that so much and then low PAAP-A the rest of my pregnancy but she’s absolutely perfect.
It’s such a worry but think with our age that goes against us & I was slightly over weight. After reading a lot about it, those raised the numbers so try not to worry too much.
Thank you so so much!! Really what I needed to hear 🤗 your outcome and also that I’m not crazy for worrying either!! It is such a worry and nothing I can do but wait 🤪 the worst combo for me lol. So glad to hear your wee girl is doing well and 8 months already? xx
Quick update- went for the test today the midwife showed me my full results and before the blood test and baby NT result was put in my odds were 1 in 47 just solely based on age! so the bloods and screening actually improved the odds! My papp-a was fine and NT measurement bang on but my HCG was sky high (6.89 MoM) so it’s that and my age putting me at the high risk category of 1 in 135. The 7-10 day wait for the results begins ⏱️ 😬
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