High risk group for Edwards and Pataus

MrsA38 · 2021-04-01T12:27:58+00:00

Hi everyone, Following our 12 week scan we have received a phone call from the screening nurse to say that our baby has a 1 in 13 chance of having either Edwards or Pataus syndrome. Obviously this has hit is like a tun of bricks. While we wait for our next scan has anyone else experiencing this? My hcgb and pap is really low but everything on the babys measurements and fluid transparency was fine. I'm just trying to prepare myself for what might happen at the next scan. The consultant I've spoken to has said that everything could be fine on the scan and my low levels could indicate that baby may have difficulty growing later in pregnancy so we will be monitored closely. Anyone else currently or has experienced this in the past? I'd love to hear your outcomes please. Thank you X

Sleeplessemma · 01/04/2021 20:30

I’ve not 100% been in that situation but at my dating scan the sonographer said my LG might have Down syndrome but the bloods were never taken, this was based just on the images. Turns out he was wrong and the scan was done too early. We did a NIPT test to get a more accurate reading for all the trisomies, came back low risk. Could that be an option for you? Paying private we got our results In 3/4 days xx

Original poster

MrsA38 · 01/04/2021 21:48

Thank you for replying! I've looked into the private test and although they cost about £400 they're not 100% accurate. We've not ruled it out but we're going to see what the outcome of the next scan is. After also suffering 2 miscarriages I'm reluctant to consider the more invasive tests as they also carry a risk so it seems like it's just a bit of a waiting game at the moment. Xx

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notinthestarsigns · 01/04/2021 22:06

Sorry to hear you are going through this, such a worrying time. Have you been referred to fetal medicine? In my last pregnancy our baby had a NT measurement of 4.6 at the 12 week scan which is high risk but we were referred to fetal medicine and had a further scan and appointment with a consultant 3 days later.

Captaincavegirl · 01/04/2021 22:21

The NIPT tests can’t claim to be 100% accurate but they are extremely accurate and not at all invasive as it is just a quick blood sample from you. All the best with the next scan.

Original poster

MrsA38 · 01/04/2021 22:45

We have been referred to a consultant but nothing is happening for another week and a half which is very worrying but it doesn't sound like they can rescan yet as nothing new would be visible. Our next scan is booked in just after 16 weeks, then another at 18-20 then even more after that. So I will be getting regular scans.

We may need to also reconsider the NIPT test. We haven't ruled it out it's just the cost. Would like to see how the next scan goes and make a more informed decision from there.

Thank you both for your replies! 💕

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Cafeaulait27 · 02/04/2021 05:55

@MrsA38 does your hospital do the NIPT test for free if your results come back as a high chance?

Ours do but I know it varies from trust to trust. It is available at quite a few trusts now though, I had my combined screening yesterday and the midwife said many women go for NIPT over the invasive tests now. Good luck xxx

GrumpyHoonMain · 02/04/2021 05:59

@MrsA38

Thank you for replying! I've looked into the private test and although they cost about £400 they're not 100% accurate. We've not ruled it out but we're going to see what the outcome of the next scan is. After also suffering 2 miscarriages I'm reluctant to consider the more invasive tests as they also carry a risk so it seems like it's just a bit of a waiting game at the moment. Xx

If you don’t want invasive tests then nipt is the best bet. It’s accuracy for edwards / patau is much better than downs & a test is almost always done in conjunction with a scan if you go somewhere reputable.

notinthestarsigns · 02/04/2021 07:44

@MrsA38 I would discuss with the consultant or specialist midwife about the NIPT if you can. I was due to have it but the consultant advised against it in my case and informed me that it is not as accurate for Edwards and Patau as it is for downs. I had an amnio in the end as the stress of it all was too much and I needed some definite answers as to what was going on but it’s a very personal decision and hard to know what you would do until you are faced with it.

Original poster

MrsA38 · 02/04/2021 07:57

Thank you all for you advice. We are now considering the NIPT test. Our hospital does not offer it so we would have to go private. I've looked at dates to get booked in and we wouldn't have the test and get the results before the scan we have booked so we will have that first and see what the outcome is before booking anything. We can also discuss it further with the consultant then. When I spoke to the screening consultant on the phone earlier in the week she didn't seem to rate the test at all but to be fair she had just given me a load of information at the time so I didn't ask too many questions about it.

Could you please let me know how all your tests go? Sending huge good luck hugs to all going through something similar at the moment xxx

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Cafeaulait27 · 04/04/2021 11:20

Hi @MrsA38 just wanted to let you know I have read recently that NIPT is not as good at detecting edwards and pataus as downs. So it may not be worth it and you may be better off going for cvs/amnio to get a definite answer.

I know cvs/amnio has a small risk of mc but from what I’ve seen this comes about more if the baby has a problem anyway (such as downs).

I’m no expert and have no experience of this but the above is what I’ve read a lot on mumsnet and from my own research.

My husband and I thought we would definitely have the NIPT but now we’re thinking we may not bother. Xxx

MilkshakeandChips5 · 04/04/2021 12:37

@MrsA38 Hi! We had odds of 1:5 for Edward's/Patau due to a high NT. We were referred to Consultant care and opted for the CVS - depending who performs the test, the risk of miscarriage is much lower and I wanted certainty that NIPT couldn't offer. We also had multiple additional scans. Our results came back clear and as it stands we're still pregnant and assuming baby is okay (fingers crossed!)

MilkshakeandChips5 · 04/04/2021 12:39

I'd also echo @Cafeaulait27. We were told that NIPT is not accurate for Edward's/Pataus and that miscarriage following CVS / Amino is often the result of an underlying issue vs. the procedure itself.

Original poster

MrsA38 · 04/04/2021 18:35

@MilkshakeandChips5 I'm so pleased your scans and results have come back clear - it's a terrifying time. :) We haven't ruled the cvc/amnio out completely. We've got a scan booked in a week and we'll see the outcome from that, if there are any doubts then I think we'll go for the amnio to get some certain answers. I've spoken to lots of consultants and a private clinic that does NIPT test since writing my first post so we're clear on our plan now. Thank you for all your help and your experiences everyone who has commented. This is my first post and I'm pleased to have some replies. X

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SAJ70 · 11/11/2022 20:54

MrsA38 · 04/04/2021 18:35

@MilkshakeandChips5 I'm so pleased your scans and results have come back clear - it's a terrifying time. :) We haven't ruled the cvc/amnio out completely. We've got a scan booked in a week and we'll see the outcome from that, if there are any doubts then I think we'll go for the amnio to get some certain answers. I've spoken to lots of consultants and a private clinic that does NIPT test since writing my first post so we're clear on our plan now. Thank you for all your help and your experiences everyone who has commented. This is my first post and I'm pleased to have some replies. X

Hi I know this post is an old one but I am currently going through the same thing and was wondering what your outcome was, hope you don't mind me asking x