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.

Hi lovely, I'm sorry you're in such a turmoil, I can hear your worry and unease from your post. I've been in your position and I know how scary and lonely it can be.

First off though, one in 10 is still fairly high odds that your child won't have a chromosomal difference, so there is still plenty of chance that this is just precautionary.

I had the harmony test as I wasn't happy with the risk of the invasive tests, but in my experience the medical community prefer the invasive tests because it gives a conclusive diagnosis. Plus the NIPT/harmony is more costly I believe.

My test was 5 years ago but it took only 5 days to return a result. Still the longest 5days of my life though!! Happy to chat further, any info you want please don't hesitate to ask, you're welcome to message me directly if you'd prefer.

Sending love, it's a rough time, I hope you are well suppprted xx

Sorry I meant 1 in 100, typo! X

To come at this another way - do you see 1 in a 100 as high risk? Medical odds are rather different from day to day risk assessment and this is 99% that the baby isn't Downs. The other issue is how you would feel about a test being positive for Downs. If you wouldn't want to continue the pregnancy the invasive test gives the absolute answer, but if you think you would go ahead regardless the Harmony test is good enough in my view. Also, every pregnancy is a lottery. You can have all the tests going and still have a child with additional needs such as autism/epilepsy/learning difficulties etc etc that can't be tested in pregnancy. Hope that helps a bit, sorry you're going through this anxiety.

Hi OP, my DS is 26 years old now so medical procedures might have changed, I was also scored really high risk, (sorry, I can’t remember the exact score now), the only option then was the amniocentesis.

At the amniocenteses appointment they first did another scan and looked for other signs of Down’s Syndrome such as heart defects, the angle of the hands and feet etc and confidently told us that my baby had no other signs of Downs and gave us the choice of carrying on with the amnio, we did have the test and waited around 2 weeks for the results which were actually posted in a letter so hopefully that would be communicated electronically now to speed things up.

Our results were negative, for me it would have been too stressful to go through the whole pregnancy wondering if my baby would have a disability and I am glad I had the test, if the result have been positive for Down’s it would have given us time to process the information and find out more to make the best choice around continuing the pregnancy or terminating.

My thoughts are with you DreamyRoseBeaker

Not to minimise it at all but flip the odds around. There’s a 99% chance your baby will not have DS. There are also so many other things that they don’t test for that you’d have no idea about.
Take a moment to think and then looking into testing and what you feel comfortable doing.

I think you need to ignore the high risk bit and think about the percentage. 1 in a 100 sounds high but it's 1%. There are loads of things you probably do with a 1% risk without even thinking about.

Also I have been there coming out of a routine scan with a photo and a scary diagnosis. It's terrifying at this stage because you don't know the little person they will become yet. I have a son who has a condition very similar to downs syndrome. He's 11 now and an absolute joy. He has a best friend who has similar abilities and it's such a privilege to have them both in my life. My son does all kinds of sports and won a medal for his trampolining last year. There have been some hard times and he was in and out of hospital a lot in the first 4 years but he is doing so well and he is actually in the middle set for maths which is a huge achievement for him.

I’m sorry you are in this position.
I also got the call last week but mine was 1 in 2 for Edwards/pataus. We had the nipt test on Friday and they said 7-14 days due to delays with new year. Yet we got the results today. So 6 days in total but 3 working days as they said they were closed on New Year’s Day.

My baby was 1in24 for DS. Nipt test was said to be 7 days but came back in 3 days. Was was the NT measurement?

A very similar experience here too with a similar aged DD (also the third child), so only the amnio option. The odds were slightly worse than yours OP. About three weeks later we were given the results which ruled out Downs. Incredibly stressful time - my thoughts are also with you.

I was given 1:75 with my first (11 years ago). The nurse told me she had heard of a test you could have done privately which was more accurate. Within 30 mins of googling, I’d booked an appointment at the Fetal Medicine Centre on Harley Street and paid £400 for a Harmony test. Best money I could have spent. I went 2 days later and 7 days later I received a 1:1000+ chance. With my second, 2 years later, I didn’t even wait for NHS scan and went at 12 weeks back to Harley Street. Got the same results. The money was really worth the peace of mind, although I think the prices have gone down as it is more widely available. Wishing you all the very best. Xxx

Thank you so much for your message and support. I’m sorry you also had to go through this.

I think before they did any bloods the age was immediately 1 in 92 but then the adjust risk came up to 1 in 100 so in some ways that’s an even better result. I could be totally wrong but my husband explained that if the test had been a different figure such as 101 that we may not even have been asked to test. Ive statistically fallen into a category purely because 1:100 is the cut off. The person doing the scan said that where she’s from that in Italy they don’t even do amnio for these numbers and try not to worry because they’re border line. But I really felt she initially had a slight sense of urgency and suddenly had a different tune after she spoke to someone outside who reassured the harmony test would be sufficient. I didn’t even know she had sought a second opinion as my husband and I were chatting about what to do and felt so shocked.

I know all of this worrying won’t change the outcome so I have to try not to get too worked up. But I thank you for sharing your experience

Thank you so much for your reply. Yes I do see the logic in the numbers. I think it’s the opposite of how my brain works so I instantly go to the emotional side of things. It’s so true though because the unseen things were always things I’d worry about and DS too because of my age. But for some reason just didn’t really think about it effecting me as the last two were just fine. I realise that was such a privilege. I think because this is something you can know prior to birth it’s something you focus on above the other potential needs.

I think knowing how I’d feel with a positive result is what makes me worry. I see both sides of the coin and i don’t want to be at that cross roads because I know it would be the most difficult decision life

What might be more reassuring was the Nuchal Translucency measurement in the 12 week scan? Was this below 3.5mm? It will probably say in your scan results.

If you look up the harmony test the statistics are misleading around it and this explains it better. https://www.nhsinform.scot/healthy-living/screening/pregnancy/non-invasive-prenatal-testing-nipt/#how-nipt-works

they were probably pushing for amniocentesis as the risk of anything happening to the baby is still low even if the needle aspect sounds scary. However believe it should only be done from 15 weeks so in meantime Harmony would be the way to go and take it from there.

Good luck!

thanks so much for your post. My husbands mum actually told me today that he was also high risk but refused the amnio for the associated risks. I think that perhaps the risk was higher 36 years ago? But I didn’t really know how they came to that concern as I don’t think they took bloods back then for that based on what some other people have said but I could be wrong.

I think despite the outcome I too would want to know to also make the best informed decision for everyone in our family unit. Of the test shows concerns I’ll have the amnio.

Thank you for sharing your experience. I’m glad you got the outcome you wishes for and got through that anxious time

Thanks so much for your post. Maybe it wasn’t the amnio but the other one that people mentioned here CVS? Either way it definitely involved a needle being placed into the placenta.

it’s hard because I almost worry that the NIPT could say low risk and I’ll still be worried knowing it’s not certain. Someone on here posted that they received a false negative.

the NT was definitely less than 3.5. I think from my memory it’s 1.25. They commented that it was thin which is what they want to see.

Thank you for sharing your experience and perspective. You must be tremendously proud. I’m sorry if posts like this are really hard to read knowing how amazing your life is now with your son. I think like you said it’s the unknowing and also worry about my own capabilities as a parent. I would hate to do a bad job at raising an additional needs child. I have diagnosed adhd and potentially autism. I’m waiting to be assessed so I get concerned that I’m not emotionally strong enough or I’m ill equipped to be the best parent i can be in day to day things let alone something with this gravity. Seeing your post warmed my heart though. I’m so pleased it all came ok for you both.

Thank you for your post. I did the harmony test with the NHS so thankfully didn’t have to pay. The result take longer to come back though I think

Thank you, was this with the NHS? I believe it was 1.25 or 1.5z definitely in the ones

Not quite the same as your situation but when I went for 10 week bloods (I was actually 11w) when pregnant with my first at age 36 I was ticking all the boxes for consent to check iron, HIV, etc etc. I got to the bottom of the list and said where's the hcg? Midwife said we don't do that routinely , you have to request it and get counselling first and book in again for it. I suspect not done routinely as back then (not very long ago at all) it was still illegal to do anything about the result here in Northern Ireland.

I thought bugger that and hastily arranged a scan and Harmony at a private clinic. Ultrasonographer was absolutely brilliant, did nuchal measurements and all the rest at an incredible of detail and I got bloods for Harmony at same appointment. Results were 10 days I think.

With baby #2 I booked Harmony testing for 10 weeks or whatever it was as soon as I knew I was pregnant. They can do foetal sexing off the same sample if you want as they're looking at chromosomes anyway.

Some of the best money I ever spent.

1:100 is equal to 1 in 101, so less than 1%.

I'd be more concerned about passing on autism. I'm autistic and it's pretty hellish and likely to become more unbearable as the population grows.

"My husbands mum actually told me today that he was also high risk but refused the amnio for the associated risks. I think that perhaps the risk was higher 36 years ago?"

Bear in mind ultrasound scanners were not great back then. The difference between them and the modern ones is night and day. So ultrasound guided procedures can be done with waaaay more accuracy now, because the machines are much better and also the depth and breadth of knowledge and experience of ultrasound techniques is better.

I was 39 when I had DC2. My combined test results were in the 80s from memory. We opted for the Harmony test and it took about 10 days, but the first set of results were inconclusive. We did it again (another 10 days) and it came back low risk. We didn’t pursue it further and DC2 does not have DS. I think age weighs very heavily on how they calculate the combined test. The doctors assured me there were no physical markers during scans either. Best of luck

We were 1:5 and did the NIPT (5 days to come back) then CVS. If I could go back I wish I’d just done the CVS as it would have meant TFMR at 13 weeks instead of almost 16. I think those three weeks make a huge difference. It was totally painless

I cannot comment on your situation but the nhs combined screening is a chance and doesn’t really tell you much, I was 29 and had a 1:8600 and my daughter turned out to be the one. Obviously I consider her to be a blessing but was a shock! If you do get results back and you are the one and want to chat judgement free with someone who has been there I’m always happy to talk to people :)