High risk of Down's AND Edwards Syndromes

[lbsjob87]

I am 15+3 and, due to a backlog, had my dating scan last week. It was too late to be 100% accurate but had a phone call today calling me in urgently to the Foetal Medicine department.
My blood tests have come back as showing a 1 in 120 chance of the baby having Down's Syndrome AND a 1 in 80 chance of it having Edwards Syndrome.
Downs I could possibly cope with, but Edwards has a best-case life expectancy of 12 months, if the baby survives at all -that I couldn't deal with, knowingly seeing a pregnancy through to term that had no hope.
My initial thought was that essentially, there is no hope, to have both must be final.
But then the nurse said that she had never seen anyone showing a high risk of both, neither has my midwife, my mum (a former midwife) OR my dad's friend, a retired GP.
I have agreed to an amniocentesis test as it's the only we will know for sure if there's a problem, but I wondered if a) anyone else has had this happen, and what was the outcome and b) realistically, being positive, are those odds in our favour ( 1 in 120 and 1 in 80) or stacked against us?
It's at least ten days before I can have my amnio so I am in total limbo right now.
I KNOW amniocentesis carries its own risk but what choice do we have?
We have been told that due to the lateness of the tests all the numbers are inaccurate and could be totally wrong, but that's not my fault, it took my GP surgery five weeks to sort out my booking appointment then another three to get a scan so everything is late. So there is a chance it's something and nothing but am in serious need of reassurance right now.

1 in 80 is just over 1% chance of Edwards Syndrome, so 98.7% chance of everything being okay. The Down Syndrome risk is even less - over 99% chance of all being well. If you were a betting person, which way would you bet with those odds?

There is a choice over invasive testing nowadays. Unfortunately it does cost (although I believe UCLH are trialling it) but look into the Harmony test. There are others that do similar called NIFTY, Panorama and the US uses MaterniT21 a lot. They've been around for a few years now available privately. Although the result is technically a screen and not a diagnostic, most care providers treat it as diagnostic as the chances of a false negative are incredibly low, well under 99%. Instead of getting a "1 in X" result, you get told high risk (then an amnio is recommended as it's still not a certainty although it's extremely likely) or low risk (1 in 10,000) so no mucking about in the middle.

Put it this way - my baby has a 1 in 5 chance of Down Syndrome following my NT screening.. that's a 20% chance. I had Harmony at the Fetal Medicine Centre in London (one of the cheapest places to get it done, but also one of the leading fetal research centres in the world) and they were utterly convinced by the negative Harmony result and strongly advised me to accept it and not do an amnio. They do dozens of these tests a day and helped with the research into it. If they trust it, I trust it.

With Edwards in particular, they will also almost certainly spot issues on ultrasound at this point, and there's a very high chance they would with Down Syndrome also. So if your scans are clear then that's another great sign that all is well.

As a further aside - I had a 1 in 34 with DC3. I did not choose to do invasive testing (could not live with myself if we lost the baby as a result - everyone has different choices) and Harmony etc was not available then so I waited it out. I spent a lot of time lurking on message boards etc. I never saw anyone with odds better than 1 in 20 get a bad result. Nearly everyone with a bad result was 1 in 5 or worse. Bloodwork alone and especially the quad screen (which I assume you had) seems to result in a lot more screen positive than the full NT screening.

I hope some of that reassures you a little! Obviously there are no guarantees, and believe me I know all about limbo after waiting it out with DC3, but your chances are extremely good there are no issues whatsoever

I understand how you feel, I didn't have risk of Edwards but I had 1:120 for downs and was offered an amnio but weighed the risk as at it was higher at 1:100 to miscarry from an amnio, so went for a 2nd level detailed scan privately instead which reassured me all was well. DC is now 5 and healthy.

I remember my GP told me that it's just a number whether it's 1:20,000 or 1:120 there is still going to be that 1:

She told me of a 20 something patient who had great results but still had a downs baby. There will always be that 1.

I would have gone to Professor Kypros Nicolaides in London if an amnio was necessary he's pretty much top of his field.

Wishing you all the best.

I'm surprised they did the NT test that late. I did mine right at the end which was 13+3 and the cut off is 13+6. I was told that anything after that date would not be effective so they won't do it (I'm in the Netherlands).

You may want to consider doing the Harmony testing - there are a variety of clinics or one in Brussels which costs 500 euro if you fancy a holiday :) the results do take two weeks but my Dr said it was more effective the later you do the tests.

Hope it all goes well.

Hi guys.
Thank you so much for helping me feel better. I'm going to ring the midwife today and put the amnio off until I've had the Harmony test I think. There just seem to be so many anomalies with dates and odds and so on, and my mum agrees that the lateness could be another thing that's confusing the issue.
The £400+ won't be easy to find but as I said to my OH, if our four year old needed a £400 blood test urgently, we'd find a way.
Hope all is well with yours, Crispy.
Thanks again.

The only thing I'd say is that the blood element of the Harmony test is sent to the USA and takes 2 weeks. You would have the scan on day 1 which might well help reassure you but there is still going to be a long wait for results. It may be worth looking into whether any of the similar alternatives are quicker?
I hope you get good news.

The amino results could take a few days anyway and by the time you get your harmony appointment which I guess is pretty fast it would only be a matter of a few days difference with results from both if you get your harmony done this week. As baking says too the harmony scan will also help. From what I have read abnormalities for something like Edwards should show up by now so it will give you peace of mind too.

It's so bad they are doing NT tests beyond the window the results are invalid after 13+6 (it was the NT test you had done?).

Just wanted to say I had 1:40 of both and had the amino. The amino was fine and I got the all clear. My DD was born 19 months ago and is wonderful.
However, she was born with two small holes in her heart which devastated me and made me realise we can never know what will happen. She is fine now, they closed on their own without need for surgery, thank goodness.
Ironically I had been most worried she would have spina bifida (I have it mildly but more severe case in family), but she didn't.
I guess it all made me realise I have a lifetime of worry ahead now I have a child!
I hope all goes well OP, thinking of you and wishing you a happy outcome.

Yes, if your dates are off that really will skew the results quite a bit!

Thanks! I will find out for sure in just a few months but I'm pretty confident having looked into the reliability myself too

Hiya

Just wanted to check if you had come across the antenatal choices section here yet, has loads of threads on amnio, harmony, downs, edwards etc www.mumsnet.com/Talk/antenatal_tests_choices

I had a Harmony test and unfortunately the results were positive, and I was advised to have an amnio to double-check, and it was bad news, but my odds were worse than yours to start off with.

I read that there is a new express version of the NIFTY test coming out which gives results within a week, not sure if it's available anywhere yet.

Sorry to hear about your results but the odds are still pretty good, I hope you get a good result from the test, best wishes.

When I had my 12 week scan I had a 1 in 6 chance of either Edwards or patau syndrome both really incompatible with life and it was an awful day they did a cvs right then as I like you could probably have coped with downs but this wasn't an option. However what had happened which was explained at the time was that one measurement (the bladder) had totally unbalanced all the results it was a major marker for these 2 syndromes even with nothing else present. Our cvs results came back all clear and at the next scan a tube had developed that wasn't there before and the bladder had reduced to normal sized. My ds is 3 now and totally well. I'm pregnant again and terrified of the 12 week scan! I really hope everything works out for you.

I had high change of Edwards , downs an patau syndrome .. It's possible to have high odds for all three.

I had a 1:59 for downs and went to the Fetal Medicine Centre at Harley Street. I was 14+1. Detailed Scan that they did have me a 1:3400 on the day and then I had the Harmony and the results took 10 days to come back and were negative. Was a simple blood test and given that we have lost 3 babies I wasn't prepared to take the risk unless I had to. Prof Nicolades is the god of fetal medicine and looked at the scan and told me that there was nothing wrong with the baby but to have the Harmony anyway to put my kind at rest. he said that if he thought I needed an Amnio, if he had any doubt, he would have done one. NHS were arsy as I had 'gone against them' and still treating me as high risk of downs. Had my 20 week scan today at 21 weeks and all is well (which I knew) - so hopefully they'll calm down a bit now! Defo recommend the Harmony test if you can do it.

I second getting Harmony/Nifty test done first. The blood test you had done is obviously an important screening tool, but it is partially based on mathematical calculation and if there is a bit of confusion about dating etc it probably doesn't help.

Also kick up a stink with your GP surgery about messing this up. Everyone who consents to the combined screening ( nuchal translucency and blood test) should have the chance to get it. It is the best screening tool available on the NHS, and if your Harmony/Nifty results come back all clear (which is relatively likely) they have caused you anxiety, worry and financial strain which could possibly all have been avoided if they hadn't messed up. It is not acceptable and they should make sure it doesn't happen to someone else.

Emberlina - The professor said that to me about my DS with a 1 in 34 for T21 as well. He said "Your baby does not have Down Syndrome, I am 100% sure of it, there's no point in an amnio at all" and of course he was right. He may have arrogance but by heck he has earned it with his research history! Like you, the NHS were still a bit though!

(I should add this was following a scan, not him just making a wild guess!!)