High risk Down syndrome and feeling helpless

[DreamyRoseBeaker]

I’ve just had my 12 week scan and everything from a physical point of view came back fine and “normal”. But due to my age of 39 combined with a high hcg reading of just over 3, I’ve been categorised as high risk of 1:100. I’ve combed endlessly on here for similar experiences which I have found but can’t help the need to get real time feed back or reassurance from recent experiences. I feel very alone and scared.

I was advised immediately to have the invasive test with the needle all whilst we were stood up about to exit. This gave us confusing feedback because I know this is a serious test with risks so I was surprised for how it was the first line of suggested testing and right as we were leaving. It was matter of fact but also a bit non chalant so it was very odd. The blood tests came back just as we’d finished the scan so maybe this was why it was all a bit weird and felt rushed. I was then told about the Harmony test but whilst 99.9% accurate, it isn’t diagnostic. It was clear the person doing the scan favoured the needle option and said it was the better option.

I asked if my partner and I could take a second to discuss this. We decided to go for the noninvasive option which we were told takes two weeks to get results. The person doing the scan said try not to worry, but I was thinking you just told me I’m high risk for Down’s syndrome and you wanted me to go straight for the amnio!?

This baby is surprise number 3 and we’ve only just got our heads around having them in our lives only to have this spin us around. I know it’s still good odds in a lot of ways but I can’t stop crying and worrying.

I guess I’d just like to hear from anyone with similar experiences and to know if it took a long time to get the results from the harmony test. Anyone who can give any pearls of wisdom I’d appreciate it.

Thanks so much that is very kind. And yes I think all these numbers are irrelevant in some ways because you can always be that 1 in whatever number follows.

Thanks for your reply. I definitely will be doing the CVS if the results show a high risk on the NIPT. I’m sorry you had to go through that .

Thank you for your message. I’m sorry you too were also in a position of waiting and anxiety. I really hope your results were good news for you. Sending you lots of well wishes

Reading your updates, you do maybe need to be prepared for your neurodivergence to be passed on. My husband is autistic (Aspergers type presentation) . I'm neurotypical. My older daughter is ADHD as is her daughter. My younger daughter is female presentation high functioning autistic and her son is classically autistic with very complex needs. Obviously that didn't show up on her Harmony test. The ND seems to have amplified through the generations. So I think you have a broader picture to consider than just Downs. The lottery of parenthood....

I had about 1:64 chance with my 1st baby (now 4yo). I was absolutely miserable with worry. I went for the NIPT which has a very, very high accuracy rate for DS and trusted it when it came back negative. ( I opted to get no other results for gender or other conditions). With my 2nd I didn't even do the screening tests, I just did the NIPT and again trusted it when it came back negative. I would've done the amniocentesis only as a last resort after the NIPT (but we thankfully could afford the NIPT).

I'm thinking of you, OP. I have a 1 in 2 chance for DS, I had the amino on Thursday and am waiting for the results. It's very nerve-racking and anxiety inducing, but like others have said, the odds are in your favour.

This is my 3rd pregnancy, a suprise like you like yours. I think regardless of the outcome, this will be the last time we go through this.

With my 2nd pregnancy, I had odds of 1 in 30, had the amino, and thank goodness everything was fine.

I would recommend the diagnostic test. The risk of miscarriage is very low, and it's the only way to know for sure. I don't think I could spend the next 5 months in limbo.

Wishing you all the best.

I was given a 1 in 6 chance of my daughter having DS. I refused the amnio because of the risks, but I did opt for the harmony test so that I could prepare myself...I was planning to keep the baby either way.

Anyway, harmony came back lowest risk and my daughter was born a few years now and doesn't have DS. It turns out the high NT level was caused by a mild heart condition which wasn't discovered after birth and hasn't needed any treatment. It was a rollercoaster ride of emotions during that period though so I sympathise.

Going through the exact same thing at the moment! 1:100 chance and awaiting the NIPT results as we speak 🤞🏼
I'm surprised they were pushing you to have the more invasive option as they were the complete opposite with me... both the woman who called me about my results and the woman who did the NIPT and talked us through all the options, said both tests are 99% accurate but obviously there's the chance of miscarriage with the invasive one. She just explained that if you did choose to terminate, they would only do that once you had the result from the invasive one, not just from the NIPT.
So in my mind (especially as we're not 100% sure what we would do if it was positive), I wouldn't want to risk a miscarriage on a 1% chance, I would want it confirmed that it's most likely going to be DS from the NIPT first before deciding what we do from there.
She did also say that because my other results were all pretty normal she did expect me to be within that 99% bracket of results confirming everything's fine so hope that's the same case for you! 🙏🏻
Hoping everything works out for you! I've seen a lot of posts from people with far far higher odds than ours that have all been fine in the end so that's given me a lot of hope xxx

Oh wow it’s feels reassuring (although I wish we weren’t!) to have someone who understands this in real time! Everyone on here has also been so lovely. I’m so sorry you’re going through the anticipation and concern. It’s really hard.

What were the other factors impacting the 1:100 for you? Was it age/hormones/measurements? My situation was strange in the way that it was very serious and urgent initially and felt rushed so it was a whirlwind. But then they also started to take a step back slightly with then saying th NIPT would be adequate enough. I don’t know if it’s because I go to Kings College which is an amazing birth and fertility centre that do a lot of research/training and a lot of very complicated surgeries in utero etc. So maybe that’s why they were extra vigilant? But I also do wonder if the worry I’m experiencing, whilst valid, was amplified by the presentation and delivery of all this information. Because at the end of it all she was almost being a lot less intense, by saying it’s just borderline so try not to worry.

That’s great they were so reassuring at your appointment. I’m constantly on the research at the moment and my support system isn’t the best and that’s just not healthy. It’s steering me away from being positive too.

I read something interesting that high hcg equates to higher sickness levels and a female so I’m praying that’s all this is. I didn’t feel as continuously nauseous as I did with my last 2. (Both boys) so who knows. all I can do is wait. I really hope you get the all clear on the NIPT. Keeping everything crossed for you! I agree the odds are not the worst in our case. I just have to remember that positive side

Thanks for you message and support. I’m so happy everything went ok for you!

Thinking of you at this especially anxious time. You’re already so amazing for dealing with this whilst having two other children. It definitely diverts you away from just being able to feel and process I think. The responsibility is a helpful distraction though at times.

I feel the same about this being the last time no matter what. I wanted three but just did not plan for this at this time. But I don’t think I could experience this worry again. I think my age will always play into this now. But I really hope with everything I have we both have positive outcomes. Sending all the well wishes and hope your way

I have been doing the same, trying to research every little thing but struggling to find much information tbh!! This page has been a god send as it's actually relaxed me so much more x

During the scan the sonographer said everything she could check looked normal but then they called with the screening results. In the NIPT appointment she went through all the results from the combined screening and actually seemed a bit confused as to why my odds were that high, I'm 34 which she said "isn't a spring chicken but also not even classed as geriatric yet", and my weight again is not a perfect BMI but also not so much that she would expect that to be a factor. She didn't really talk me through the hormone results just said they looked normal, but when I poured over them when I got home, she'd put a tick next to most things on the sheet but not the hCGb which is 4.90 - and I can't seem to find anything online about what a normal range is!! A few other posts in here have suggested that's quite high (so not sure why she didn't pick that up in the appointment). What you've mentioned about higher HCG coming with more sickness would definitely check out as I've been extremely sick this time around so hopefully it's just that!

Just to counteract this, OP, don't immediately assume or worry you will have a ND child because a parent is. I prepared myself for this prospect, as my DH was diagnosed ASD at 4. My son is 3 and showing no signs at all of being ND.

I think the key question to ask yourself is:
Would I continue the pregnancy if it does turn out to have chromosome abnormality like Downs? If the answer is yes, then you don't need to have an invasive test that will give you a definite answer. If the answer is no then you need a test that will give you a definite answer, even if it is an invasive test, with associated small risks.

Thank you so much. I think there’s a possibility my child has adhd but I’m not even focused on anything like that right now. This is taking all my energy! i do understand what they’re saying in a way…my dad and brother seem to have undiagnosed autism, my sister has adhd and my mum definitely has undiagnosed adhd. But In Our case it’s been lower down on the spectrum compared to our parents. So I don’t really see the increase in severity a pattern in our case. It is totally unknown and cannot be predicted so I do see a difference in worrying about what info you do have access to vs something you could never ever know until after birth.

I totally agree! this forum is all I’ve had in the way of good support! It’s making me question a lot lol But regardless I’m glad it’s here for me. So thank you and to all the other lovely women who have taken the time to help.

I also wondered about my own weight etc. I’ve always been a healthy weight and a bit of an obsession with being slim rightly or wrongly, but I actually really struggled after number two and went up a couple of dress sizes. My BMI was also considered slightly over weight. But when I checked out if HCG was linked to dietary choices or changes etc (as I do know carbs and starchy foods increase oestrogen), it had no connection. I think I need to just chill on the self diagnosing and just wait but it’s so hard for me.

I think normal range is 1 ish as it was explained to me. I did see something that said ds results can occur usually from 2.5 upwards so perhaps this is why they focused a lot on this vs my age. From what my dh understood, if the score was 1:101 then this isn’t even considered high risk. It’s because it was borderline with the parameters. But I’m not fully sure this is the case because I read 1:250 elsewhere. My initial risk before the bloods and measurements was 1:92 and then an adjusted level of 1:100 after they did my blood work. So in some ways got better. They said 1:92 was based on age alone. But I don’t understand that how it got better because the hormone is high. This is why I guess I just need to wait for the NIPT test. I did look at my last pregnancy which was when I was 37 and it was a lot lower at 0.8. Do you know when your results are due in?

I am exactly the same I'm a complete google dr!

I'm also heavier than my first DS, I think my attitude was if you can't enjoy "eating for two" and getting fat when you're pregnant, when can you.... not really factoring in that you of course don't then birth all this extra fat along with your baby 🤣 then I thought it's fine I'm planning to breastfeed so it'll just drop right off (so they all say... they lied 😅) so nearly two years later and I was only just starting to see progress when pregnancy number 2 happened!

Ahh that's probably why mine came in so high risk then as 4.90 sounds really high!! I wonder why she didn't talk to me about that and just said they all looked normal? My age related risk was 1:435 then bumped up to 1:100 individual risk. I think if yours was downgraded that's a real positive! It also says on my letter that high risk is >1:150 (but maybe it varies depending on location, there seems to be such wild variations in other medical areas depending on postcode).

I'm really praying it'll be today as she said hopefully 5 days 🤞🏼 How about you?

Really hoping you get your results today. They said up to two weeks for me and it’s only been three working days so far. Five days if you count the weekend. I’ve not got work until the 13th so really hoping I get the results before I have to go back. Maybe if it’s five days I’ll hear by Thursday. Fingers crossed 🤞🏽

I think we're on the same timescale! She said 5-10 days to me but because we're through Christmas now she'd expect it to be the lower end, I've seen some people post on here that they had them back in 3, so I was hoping it was actual days not working days but no call yet. I usually WFH but I'm in the office tomorrow and Friday so dreading getting the call then, as I know I'll cry whatever the outcome is.

Keep me posted! xx

I absolutely do not expect you to share your results, but I do hope all is well. x

Unfortunately still nothing back yet. I’m assuming I’ll get the news next week but I will be at work which isn’t ideal as it’s a setting with people I do not know as I am a freelancer. I hope I don’t miss the call either. Keeping fingers crossed for all who are waiting

Thank you to everyone who offered support. the results came back low on the NIPT test as 1:10000 Unfortunately I realise now I’d fully convinced myself something was up and can’t quite believe it or feel at peace. Still a bit nervous, but am so happy to receive the letter. Thanks again everyone you were such a help

Hi OP. I'm sorry you're in this position - it's a really worrying time.

I was 37 when we conceived our one and only child in 2018, 38 when he was born. I had the NHS blood tests and was told he had a 1 in 96 chance of Downs. The algorithm/formula gives (overly) heavy weight to the mother's age.

The midwife who phoned to give me this result explained that if 96 women with the same odds were in a room, only 1 of them would end up having a baby with Downs.

The next day, we had the Harmony test and the results returned in under a week as 1 in 10,000 for Downs and other trisomies. There were also no physical markers on the accompanying scan. That gave us confidence to proceed without the Amnio. He was born completely healthy in August 2019.

It was a really worrying time so I feel for you but, as I've said, the NHS blood testing is crude and places undue weight on maternal age.

This is good advice imo

I remember that feeling like it was yesterday.

DS was 1:100 as well. the Harmony result was 1:10000. We also had extra 3D scans to find his nose bone. (They were also worried about pataus!)

I too was high risk for Trisomy 21. So I wonder if there’s more of a genetic link than previously realised?

Anyway, best wishes OP x