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Very high risk of Edwards and Patau

28 replies

Mar2014 · 29/04/2020 10:41

Hi. I had my 12 week scan on Monday and everything looked fine on the scan, NT was 1.8. Unfortunately yesterday evening I received a call to say that the risk of baby having Edwards or Patau syndrome is 1 in 5. Having spent most of the night looking through forums, the majority of people who have been told the same odds then went on to say that further tests showed up positive for one of the two. It makes me worry that “1 in5” actually means it’s more likely to be the case than what the odds suggest. Has anybody received the same odds and then gone on to have good news?
We were looking into a private NIPT. Money isn’t an issue, but the accuracy for Patau is only 94%, and I know that regardless of the result I will still be worrying about the accuracy so I’m now waiting for a referral for the needle test Sad

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TenThousandSpoons0 · 29/04/2020 12:43

Sorry you’ve had this happen - it’s very stressful. Unfortunately forums won’t tell you the answer, and although you’ll be able to see stories where everything turned out fine, I’m not sure you’ll find them reassuring until you’ve had your own test!
With a result of 1:5 typically the needle test would be recommended rather than the NIPT anyway - as the NIPT is also only a screening test and not diagnostic.

I’ve seen lots of info around that can be a bit misleading about the needle tests, so will just outline for you in case you haven’t come across this information already:
Your options for the needle test will be CVS which could be done from now until about 14 weeks, miscarriage risk 1:500 due to the test itself, slightly more uncomfortable but advantage of a quicker result. Very occasionally that test is not possible due to h the position of the placenta.
The other option will be amniocentesis, 1:1000 miscarriage risk, done from 15-16 weeks onward. Very slightly more straightforward and less uncomfortable. Both tests the needle is in only a minute or two so don’t be too apprehensive about the test itself.

Of course you can also choose not to have the testing but it doesn’t sound like that option would be for you.

Good luck - it’s a very difficult time to get through and I know how it feels to just want answers as quick as possible.

Mar2014 · 29/04/2020 13:37

Hi. Thanks for getting back to me. We are definitely getting the test, and hoping to be booked in for the CVS as I just want to know as soon as possible, but I’m 13 weeks tomorrow and our local hospital doesn’t perform them so I’ve been referred and have to wait for them to get in touch.
In the meantime I’m just wanting to know if anybody has had good news after being given these odds, as I only really seen to come across those who had it confirmed after given 1 in 5

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CarterBeatsTheDevil · 29/04/2020 13:45

Hi, OP, that sounds really stressful. I just wanted to say that it's worth looking into the success rates of amniocentesis at your local hospital, because they can go up and down. So in hospitals where they're good at it the risks are a lot lower than 1:1000

CandyMan10 · 29/04/2020 13:56

There is an 80% chance baby is fine. markers can give you high risk like older parents or weight and then all turns out ok.

Workingmama1 · 29/04/2020 14:03

Sorry you are having to go through this, it much be so stressful. It's not quite the same but my friend was given a 1 in 3 chance of downs with her little boy. They did NIPT and it was fine, he's a healthy cheeky little boy now. 1 in 5 although "high" still means an 80% chance of being ok. Try to stay positive but mentally prepare for news either way. There are also organisations who can help talk things through. Tommy's helpline is closed but they are offering email support and I think there are a few that deal specifically with issues with babies that may still have open phonelines. If you need someone to just talk about emotions then the miscarriage association phoneline is still open. I wish you the very best and hoping for a good outcome for you

FizzingWhizzbee123 · 29/04/2020 18:02

Sorry but I need to point out that the CVS and amnio odds quoted above are incorrect. Having gone through similar recently myself, I have researched these odds in detail.

CVS is around 2% - therefore 1/50 (not 1/500)
Amnio is around 1% - therefore 1/100 (not 1/1000)

I’m not trying to scare anyone but obviously there’s a significant difference and people need to know the correct stats to reach an informed decision.

OP, I’m sorry you’re going through this, it’s very stressful. It’s a hard decision, but I’m afraid it’s only one you can make.

Mar2014 · 29/04/2020 19:27

Hi all,

Thank you for your comments. I hadn’t been getting notifications of replies. We have discussed the risks, but given the worrying odds we are going ahead with the CVS tomorrow morning.
Thanks Candyman10. I’m trying to focus on the 80%, but I’m not particularly old and a healthy weight. And with the good NT reading I feel that the bloods must have been seriously and majorly bad to come back with these odds

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Mar2014 · 29/04/2020 19:29

Workingmama1, it’s reassuring to hear of somebody receiving good news from “one in three”, thank you
FizzingWhizzBee123, I’m sorry to hear that you have been through similar. I hope that all is ok

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Elouera · 29/04/2020 20:05

I understand the stress this can all cause. The NT is good and as someone else said, if you are older, this will automatically put the risk number up. Were there any physical issues seen on the scan?

Our 1st pregnancy had patau syndrome. I was 38 at the time and paid for the NIPT at 10weeks- before we'd had the combined test. The NT was 6.5mm and there were multiple, obvious issues on the ultrasound. if you have any questions, feel free to ask or private message me.

Remember its 80% chance of things being fine. You aren't alone and the only person to be in this situation x Flowers

Mar2014 · 29/04/2020 20:29

Hi. Thank you for sharing your experience. I’m 32, so I’m not sure that would hugely contribute. The sonographer said everything looked fine on the scan and my weight is healthy, which makes me think my bloods must have been really bad. I do feel a little better knowing that I’m booked in and don’t have long to wait x

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NelliePig · 29/04/2020 20:43

Just to add I had a CVS and it was honestly fine, I had zero spotting or zero cramping beforehand. I took 2 paracetamol half an hour before the procedure which helped as can be a little crampy when they are actually taking the peices of placenta out. I would take a sanitary pad with you so that you can pop it in your knickers after just in case you get any spotting, I didnt but felt reassured I would have some protection if I did.
They scanned me before and after too so I saw baby was okay and I got a couple of pictures for free.
It's not painful, just a little uncomfortable, but it's all very quick!
I hope it all goes well for you! X

NelliePig · 29/04/2020 20:44

Sorry should be no spotting or cramping after!!

Mar2014 · 29/04/2020 20:55

Hi NelliePig. That’s very reassuring and good tips, thank you I really appreciate it x

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TenThousandSpoons0 · 29/04/2020 21:49

@FizzingWhizzbee123 that’s misleading re procedure risk. you have to be careful as a lot of studies don’t take into account the background risk of miscarriage. Here’s a link with good information showing 1/1000 and 1/500 risks. Newer studies show even lower than this esp in units that do a lot of these procedures.

OP I know I’ve gone off on a tangent from what you wanted to know originally, sorry! just didn’t want you worrying more than you have to about the procedure! Best of luck.

SerendipitySunshine · 29/04/2020 21:53

We had very similar odds but had a healthy baby with no issues. It took longer to get results so I had an amniocentesis and the results were clear. It was a horrible wait for test results though, so I know how you must be feeling. Fingers crossed.

Mar2014 · 29/04/2020 22:07

TenThousandSpoons0, no need to apologise. But I know that both of you are only trying your best to give me information you think relevant. I figured that the odds might not be as bad as they seem, given that those having the tests are people with higher risks of these conditions, and therefore have a higher risk of miscarriage at that time anyway. I suspect a lot included in the figures could have unfortunately miscarried when they did regardless of the procedure, it’s not going to be based on many healthy screened pregnancies.
SerendipitySunshine thank you for sharing this, I’m not going to let myself get carried around but it helps to stop me from purely focussing on the negative outcome x

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1moresurvey · 29/04/2020 22:40

My daughter went through a cvs test 5 weeks ago, she was given the same odds of 1 in 5 chance of the baby having pataus, Edwards syndrome or severe downs syndrome. It was the most stressful week we could have ever imagined. Receiving the first round of test results 4 days later (you get 2 lots of results, second lot test for other potential problems) was the most unexpected news that the baby was fine, especially when the doctor had been so convinced of a bad outcome. Not everyone is so lucky I know. Fingers crossed for you tomorrow and to have equally good results x

Mar2014 · 29/04/2020 23:01

That’s fantastic news for you and your family. Thank you for sharing x

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CrimsonCattery · 30/04/2020 09:52

Good luck today OP.

sunnie1992 · 30/04/2020 10:01

We were 1 in 9 risk for both Edwards and patau (spelling?).

He's now a robust and healthy 6 year old.

Good luck today. X

SerendipitySunshine · 30/04/2020 10:27

I was shocked by how negative doctors and midwives were once we became high risk. Our baby was fine, but until we got the results back they were pushing us towards TFMR quite strongly.

Mar2014 · 30/04/2020 11:54

Thanks all. Unfortunately the placenta wasn’t in the right position so the CVS wasn’t carried out. The consultant was amazing and spent ages looking at baby. She said it can be too early to spots lot of issues, but couldn’t see anything that concerned her. I’m booked in for another try next week, but I luckily was able to get straight in for an NIPT just up the road minutes later. I had avoided this due to low accuracy percentage for Patau (94%), but he explained why this was so low. Basically a negative result is a confident result, a positive result is where accuracy can be questioned as it could actually be an issue with placenta instead of baby, which he suspects could be the case for me if any given the encouraging scan results.

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TenThousandSpoons0 · 30/04/2020 11:57

That sounds promising so far - shame they couldn’t do CVS but great re NIPT straight away so you’ll have some results pretty soon anyway. Fingers tightly crossed for you!

Booni · 25/10/2020 16:56

@Mar2014 Hello OP, was just reading your posts. I am sorry you were going through this. I am in a similar situation atm. I hope you received some good news? X

Mar2014 · 25/10/2020 17:14

I’m really sorry to hear that you are going through similar. Unfortunately we didn’t receive good news and were the unlucky 20%, but please don’t let that increase any worry that you may have, as I did hear of so many who didn’t receive the bad news so a high risk screening doesn’t necessarily mean that’s something is wrong.
We are pregnant again now with a little boy and a CVS has given us the all clear, so for whatever reason it wasn’t meant to be for the first pregnancy.
If you have any questions or need any support please let me know. Be kind to yourself x

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