Help! Edwards & Patau Syndromes 😔😭 - Fertility Network UK

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Help! Edwards & Patau Syndromes 😔😭

Wishfully profile image
Wishfully

We’ve bumped back down to earth after a perfect dating scan, and seeing our wriggly 13 week old baby again... But here we are, in a slightly darker reality - where our screening tests have come back as high risk for both Edwards and Patau syndromes.

I’d really appreciate any input & advice from anyone who has been through this already. I’m trying to stay calm (but mostly failing at that). From what I can see, both of these conditions are severely debilitating and quality of life is in no way guaranteed.

We speak to the hospital again tomorrow morning...

Options they gave us were:

1. Do nothing (we live with the worry & gamble on the basis it may be ok)

2. Go for invasive testing at 15 weeks, but this in itself carries a miscarriage risk. Here they extract fluid and placental tissue for testing via needle to stomach.

3. Wait until 20 week scan to check for physical abnormalities (liver, heart, kidneys etc). There is no option to terminate at 20 weeks, so this would be for mental preparation only.

4. Pay for non invasive testing (blood test which extracts baby’s DNA from my blood - will cost around £500). If it comes up positive, they may also suggest we go for invasive testing to be sure, but avoids the risk if it comes back negative.

I’ve cried my eyes out but it’s really not helping. I really need to properly think this through! Any advice, guidance, experience would be gratefully received.

Help xxx

40 Replies

I'm really sorry to hear this! I haven't had the test, I decided I didn't want to know! I don't know what you should do either.. You must be so worried!! If it was me, I would probably pay for the blood test. Oh hun, hoping all will be well! And it's just a probability that is wrong xxx

elle80 profile image
elle80 in reply to elle80

I didn't realise the cost of the blood test!

😔 Xxx

Wishfully profile image
Wishfully in reply to elle80

Just been sat running through the options with hubby - we think she must have said about 4 to 500, not about 4500! Phew! 😂 I’ve corrected in my note above. Thanks so much for your reply, think we’ll go for the non invasive testing x

No experience, but I just wanted to say how sorry I am that you have had worrying news. I hope with all of my heart that everything is ok with your baby.

I’ve thought a lot in the past about what I think I would do, and I think I may opt for the further testing at 15 weeks, depending on the actual risk figures I was given. But you never can say unless you are in the situation so opinions are of no use from people like me.

Lots of love xxx

Wishfully profile image
Wishfully in reply to Orla9298

Thank you Orla, I think that’s what we’re going to do x

Oh god hun I am so so sorry to hear this. Like Orla, I too have thought about these things and think that I would opt for the 15 week tests. It's totally your personal preference though. I think I would just want to have a clearer understanding to mentally prepare myself for what is to come. I really hope that whatever option you choose to go for, that everything works out for you. I know how long this has been for you and I will be thinking of you xxx ❤

Wishfully profile image
Wishfully in reply to Ekjones86

Thank you lovely xx

Wishfully profile image
Wishfully in reply to Ekjones86

Oh and good luck at your appointment tomorrow, will they do your dating scan at the same time? xx

Ekjones86 profile image
Ekjones86 in reply to Wishfully

How are you feeling today? Hope you managed to sleep alright last night. As others have said, the stats are ALL on your side. Keep us informed with how you get on.

It was just my initial notes this morning so all quite boring! Have our dating scan on Thursday. They rushed it through so that we could have the chromosomal testing.

Honestly though, I hope you're ok today and feeling a bit better about things xxx

Wishfully profile image
Wishfully in reply to Ekjones86

Thank you & I hope your scan goes well on Thursday x

Our results are due back Wed or possibly Thurs next week. Time will move desperately slowly until then.

Hardest wait yet.

The midwife asked us if we wanted to know the sex of our baby as part of the results. I was so desperate to know that, but now it has paled into insignificance. I just want a happy, healthy baby. Absolutely nothing else matters...

Ekjones86 profile image
Ekjones86 in reply to Wishfully

Sorry for the delay. I can't imagine how on edge you are feeling. I really hope the results are on your side. From what I have read Edwards and patau syndromes are super rare so like I said the odds are all in your favour. Just be amazing to get that confirmation!

Have been thinking about you. Not long to go now for the results 😊

We had our scan yesterday and all was fine. Measuring a day out at 14 weeks 1 yesterday and baby was too big for testing!! So I have to have downs screening at 16 weeks and wait for 20 week anomaly scan for Edwards and patau. 0.4mm too big 🙈 how unlucky is that!! Xxx

Wishfully profile image
Wishfully in reply to Ekjones86

Oh that is a pain, but sounds your little peach is growing at quite a rate, which is no bad thing 😊

I think (if you wanted to) that you could have an NIPT to check bloods for all three conditions, rather than wait, but up to you xx

Hidden profile image
Hidden

No experience but I just wanted to say that if you have had the ultrasound recently- the non-invasive prenatal testing (NIPT) eg Harmony can be less pricey as normally the package includes an ultrasound as well as a blood test but they may say you don’t need it if you have had one within a few weeks. I am 9 weeks at the moment and am planning to go for NIPT testing after ten weeks anyway but I appreciate not everyone can afford it.

Thinking of you xxx

Wishfully profile image
Wishfully in reply to Hidden

Thanks Zoe x

Sorry to hear you’re having to go through this added worry. I think the answer depends on how you are as a person and your appetite for risk. Some people will say that what will be will be and wouldn’t change anything, others would want to know and either do the testing. The non invasive testing is probably safer, but obviously costs and not everyone can afford it. If you do decide to go down the non-invasive route then I would recommend shopping around your local area to see who offers what. E.g. there is a private provider in my local area who says that NIPT testing is from £350 but also offers different types of testing from about £200. Not sure whether any of the cheaper options would give you exactly what you’re looking for but worth looking into to see. I hope it all works out ok for you x

Wishfully profile image
Wishfully in reply to Lynnr54

Thank you Lynn xx How did you get on this round in the end? Did you test positive? Hope you’re ok x

Lynnr54 profile image
Lynnr54 in reply to Wishfully

Yes, I got a BFP thanks. Now just the horrendous wait for the viability scan. It’s even worse than the 2ww! x

Wishfully profile image
Wishfully in reply to Lynnr54

Oh that’s fantastic news!! Congratulations 🤗x

What an awful situation to be in. While I have not been there myself, I do know that even if through basic tests you flag as high risk, most people find there is no issue at the end of the day. I know I would be thinking the worst in your shoes, but try as best you can to hold onto this.

In terms of testing, I would get the DNA blood test (your option 4) - I cannot recall the accuracy of it, but pretty high. It’s sometimes called the Harmony test, but this is just one brand (blood sample gets sent to USA and get it back in a week).

Google for prices though. When I went privately in London I got a 10, then 12 week scan plus DNA Harmony blood test for £400 in total. As such, I suspect you should be able to get the blood test for £100 tops as a stand alone.

Some NHS Trusts do now offer this to their patients for free if they come back high risk, but it sounds like yours doesn’t which is pretty crappy and yet again highlights the postcode lottery of the NHS.

Good luck - I can only imagine how stressful this must be for you. X

Wishfully profile image
Wishfully in reply to Mogwai_2

Thank you, yes I’m holding on to the stats!! I’m not a gambling person though, and when we’ve tried, hoped and waited so long for our baby, any risk feels massively inflated and so cruel when we’ve got this far. I desperately hope that it’s a false scare, anything else will completely break me, I’m more than a little bit emotionally committed now... Thanks so much for your reply & I hope all is well with your pregnancy x

I am so sorry to read this. I can’t imagine how stressful it must be. I personally would recommend the non invasive testing. I had mine done in London and was really pleased I had. It is much more thorough than the nhs screen (which goes a lot on things like age). It cost us £400 and included an amniocentesis or chorionic villus sampling had we needed it. The clinic also had a very good reputation for conducting these invasive tests. I know people who have had worrying results from nhs tests and then the non invasive testing has come back very low risk. I sincerely hope this is the case for you. I wish you luck with whatever you decide and will be thinking about you xxx

Wishfully profile image
Wishfully in reply to Flimzee

Me too! I hope we get the all clear and I can get back in my bubble again. 🤞

We’re going to ask for the non invasive test, as soon as they’ll have us in. I really appreciate you taking the time to reply, thank you xx

What a bloody awful situation to be in....lm so sorry you are going through this.

Hugs n Blessings.

Wishfully profile image
Wishfully in reply to Elynn

💛 thank you x

I am so so sorry what devastating news..we opted not to have tests however it is very personal..all I would say is that a friend of mine went for tests and her daughter was high risk and had no issues in the end..fromyou understanding all they can do is say risk not confirm unless you have other tests xxx

Wishfully profile image
Wishfully in reply to vic77

Thank you Xx

We are reminding ourselves that we asked for these tests, it’s what we wanted, so we could make informed choices. I hope you are well Vic and that you are healing, thanks so much for taking the time to reply xx

I'm really sorry to hear this, it's indeed an unsettling news. I have no idea of the situation as most people have said, but will advise based on your options to do the blood test. I will also pray for you, miracles happen, I believe God can turn the situation around for your good. Let's keep praying.

Wishfully profile image
Wishfully in reply to kumkums

Thank you xx

Oh sweet, how awful that you have to go through it at what should be one of the happiest times of your lives! This happened to a friend of ours, was told the odds were 1 in 5. She had invasive testing at 15 weeks (apparently an incredibly low chance of miscarriage) and all came back absolutely fine. She now has a beautiful baby boy. Only you know what the right decision is for you. Sending lots of love xx

Wishfully profile image
Wishfully in reply to Sunshine92

Thank you! This is so encouraging... I think when faced with a risk it’s natural to assume the worst, especially when it matters this much xx

So sorry to hear this. I have been in your situation except that the 12 week scan showed that were issues with the baby rather than the blood test. This was rare i believe as Edwards in particular is often not spotted until the 20 week scan and sometimes never. We opted for the CVS straight away as it was very high odds of something bad. Edwards was confirmed. We are pregnant again now and decided straight away to go for the non-invasive testing due ro our history. We went for NIFTY at a recommended clinic outside Cardiff @£395 for the basic test. We live in Bristol and the costs here were significantly higher, so worth shopping around. For me if the scan was ok I would go for the non-invasive test if you can afford it before doing the invasive test. The miscarriage rate for CVS and amniocentesis is 1%. I really hope all works out for you and the baby has neither.xx

Wishfully profile image
Wishfully in reply to precioce

Thank you so much for sharing your experience and I am so, so sorry that you had to go through that. I hope you have a wonderful & uneventful pregnancy, it sounds like you derserve it xx

precioce profile image
precioce in reply to Wishfully

Thank you. Glad to see that you went for the non-invasive test. Hope the results come back bed low risk. They are so much more accurate than the standard NHS test.xx

I’m sorry that you had all of the stress of being tagged as high risk, but congratulations on your new and farty baby 😊😊 This really made me smile, thank you xx

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I'm sorry to read that you're faced with this horrendous situation. I can't advise you on what to do as I wouldn't have a clue what to do in your situation either! I hope you get the advice you need to make an informed decision. Whatever you decide I wish you all the luck in the world and hope further tests show nothing sinister. Take care xx

Wishfully profile image
Wishfully in reply to Hidden

Thank you JoJo x

My first course of action would be an NIPT test. It will be worth the money. Mine cost £400- I will pm you the name of the company. If they come back low risk they are very unlikely to be wrong - an NIPT is much much more accurate than the standard tests- my midwife told me that from October the NHS will be offering this to people in your position as the first “next step”. Downside is that it can take up to two weeks to come back with the results.

Thank you Lizzie 😊 How are you? Did your dating scan go ok? Xx

We managed to find somewhere who fitted us in yesterday & will get results back for next Wednesday. It’s going to be the hardest wait yet...

Orla9298 profile image
Orla9298 in reply to Wishfully

Good luck, I’m sure the results will come back just fine, will be thinking of you xxx

So glad you’ve got that test done. The wait will be hard. I had my NIPT done at ten weeks as my dating scan wasn’t until 13 weeks and I wasn’t keen to wait. Mine came back low risk so I declined the NT test and blood tests at my dating scans. I’m mainly low risk for everything but they’ve said I have risk factors for a small baby (ivf, over 35, first baby) so have prescribed baby aspirin but I haven’t got my prescription yet. Seeing consultant on 2nd July for general check and I’ll also be offered extra scans later on.

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