Active discussions

Please or to access all these features

Talk
Antenatal tests

Get updates on how your baby develops, your body changes, and what you can expect during each week of your pregnancy by signing up to the Mumsnet Pregnancy Newsletters.

Original poster

1 in 2 chance of Edwards or Patau

40 replies

Alwaysanna · 27/12/2024 23:34

Hello I’m looking for anyone in the same position really as it feels quite a lonely place to be right now.
we had our 12 week scan and combined test last week. This is our first baby that’s made it to this point (we have had 2 previous back to back chemical pregnancies this year)
This morning we had a phone call to say I had low Papp-a and 1 in 2 chance of Edwards or pataus. DS was 1 in 540.
The NT test was normal … I think this was 1.2.

we had the NIPT test and now have an agonising 7-14 day wait. I’ve since read online that given our high result that many suggest going straight to cvs/amnio and there is a chance of a false negative on the NIPT.

would there have been any markers on the 12 week scan that could indicate Edwards/pataus?

anyone had the same high result and then NIPT was fine?

thanks for any info/support ☺️

OP posts:
elliejjtiny · 27/12/2024 23:40

This was 17 years ago when testing was not as accurate but one of my preschool mum friends was told that her baby had Edwards syndrome when she was pregnant. When the baby was born he was a healthy baby who had downs syndrome.

anonny55 · 27/12/2024 23:46

No experience of this personally but just wanted to say , good luck and I hope you get the answer your looking for🤞🏽💫

JC03745 · 27/12/2024 23:55

I'm sorry you are going through the stress of this OP . I sympathise and can relate. You are older than whenever you had your DS, so your numbers will generally also be higher risk.

DH and I TTC 4yrs and finally got pregnant, with no medical issues at all. I'd paid for the NIPT before the 12 week scan, and it showed T13, patau syndrome. The clinic then did a more detailed scan. NT was 6.5mm. Your 1.2mm is absolutely normal in comparison. They could also see very obvious issues on the ultrasound- even at 11 weeks. Cleft face, not just a lip, a large hernia around the umbilical cord, shadowing in the brain and multiple other things.

If your ultrasound didn't pick up any, abnormal problems and the NT was normal, I'd feel reassured. Obviously, go for further testing if it provides more reassurance. Tommys are a good source for testing etc. I'm happy to answer any questions you have, and you are never alone xxx

Original poster
Alwaysanna · 28/12/2024 00:00

anonny55 · 27/12/2024 23:46

No experience of this personally but just wanted to say , good luck and I hope you get the answer your looking for🤞🏽💫

Thank you for this 🙏

OP posts:
Original poster
Alwaysanna · 28/12/2024 00:01

JC03745 · 27/12/2024 23:55

I'm sorry you are going through the stress of this OP . I sympathise and can relate. You are older than whenever you had your DS, so your numbers will generally also be higher risk.

DH and I TTC 4yrs and finally got pregnant, with no medical issues at all. I'd paid for the NIPT before the 12 week scan, and it showed T13, patau syndrome. The clinic then did a more detailed scan. NT was 6.5mm. Your 1.2mm is absolutely normal in comparison. They could also see very obvious issues on the ultrasound- even at 11 weeks. Cleft face, not just a lip, a large hernia around the umbilical cord, shadowing in the brain and multiple other things.

If your ultrasound didn't pick up any, abnormal problems and the NT was normal, I'd feel reassured. Obviously, go for further testing if it provides more reassurance. Tommys are a good source for testing etc. I'm happy to answer any questions you have, and you are never alone xxx

Thank you. I did wonder if any markers would show on the 12 week scan and nothing was mentioned. That is reassuring.
thanks for your reply 🙏

OP posts:
PartySuziPlease · 28/12/2024 00:06

I had a 1 in 7 chance of all three and had CVS, healthy baby who is now nearly 7! Sending you lots of hugs, the wait is horrific, such an anxious time x

orion678 · 28/12/2024 01:06

Just to note NIPT is not diagnostic, while CVS and amniocentesis are. So while NIPT is usually more accurate than the usual prenatal testing, it will still only give you a probability, not a definitive answer. Personally, I would do the CVS or amnio before making any decisions. I'm so sorry you're dealing with this in your pregnancy

Babyshambles90 · 28/12/2024 01:22

JC03745 · 27/12/2024 23:55

I'm sorry you are going through the stress of this OP . I sympathise and can relate. You are older than whenever you had your DS, so your numbers will generally also be higher risk.

DH and I TTC 4yrs and finally got pregnant, with no medical issues at all. I'd paid for the NIPT before the 12 week scan, and it showed T13, patau syndrome. The clinic then did a more detailed scan. NT was 6.5mm. Your 1.2mm is absolutely normal in comparison. They could also see very obvious issues on the ultrasound- even at 11 weeks. Cleft face, not just a lip, a large hernia around the umbilical cord, shadowing in the brain and multiple other things.

If your ultrasound didn't pick up any, abnormal problems and the NT was normal, I'd feel reassured. Obviously, go for further testing if it provides more reassurance. Tommys are a good source for testing etc. I'm happy to answer any questions you have, and you are never alone xxx

It is very kind of you to post about your experience. I don’t want to say anything clumsy or make any assumptions but I was really moved that you had reached out to reassure the OP and offer support.

OP, I can only imagine how hard the waiting is but a close friend had similar odds and opted for an amnio. Baby was healthy and the pregnancy was straightforward. I really hope the outcome is the same for you. There are good options for charities who will have a chat to you mentioned above so you feel less alone, or the Samaritans can provide a listening ear and help you to work through what may be complicated feelings without judgement. You don’t have to be suicidal to call.

Original poster
Alwaysanna · 28/12/2024 09:01

orion678 · 28/12/2024 01:06

Just to note NIPT is not diagnostic, while CVS and amniocentesis are. So while NIPT is usually more accurate than the usual prenatal testing, it will still only give you a probability, not a definitive answer. Personally, I would do the CVS or amnio before making any decisions. I'm so sorry you're dealing with this in your pregnancy

Thank you.
I think I’m going to contact my midwife today and discuss the options.
keeping everything crossed 🤞

OP posts:
Original poster
Alwaysanna · 28/12/2024 09:02

Babyshambles90 · 28/12/2024 01:22

It is very kind of you to post about your experience. I don’t want to say anything clumsy or make any assumptions but I was really moved that you had reached out to reassure the OP and offer support.

OP, I can only imagine how hard the waiting is but a close friend had similar odds and opted for an amnio. Baby was healthy and the pregnancy was straightforward. I really hope the outcome is the same for you. There are good options for charities who will have a chat to you mentioned above so you feel less alone, or the Samaritans can provide a listening ear and help you to work through what may be complicated feelings without judgement. You don’t have to be suicidal to call.

Show quote history

That’s also reassuring to here positive experiences with similar experiences.
I will speak to my midwife today about an amnio.

I have heard the arc charity is really good and I got given a number for them, so will definitely reach out 🙏

OP posts:
Original poster
Alwaysanna · 28/12/2024 09:03

PartySuziPlease · 28/12/2024 00:06

I had a 1 in 7 chance of all three and had CVS, healthy baby who is now nearly 7! Sending you lots of hugs, the wait is horrific, such an anxious time x

im so happy it all worked out well, its so nice to hear the positive experiences of others ☺️
thank you 🙏🤞

OP posts:
MrsScotland · 29/12/2024 09:37

Hi OP

You might have read my story on here when searching for info. We lost a baby to T18 (Edwards) last year. It was very obvious from our 12 week scan that baby was affected. The NT was 8-8.5mm. There was the appearance of a cystic hygroma. My combined test came back 1 in 8 for T21 and 1 in 5 for T13/18.

i had the NIPT and it came back high risk for T18. I’m not an expert but I think it’s pretty accurate.

I was booked in for CVS but the Fetal Med Consultant agreed that baby was very unwell and was willing to authorise the TFMR to begin then. I had been in limbo for two weeks by then and just couldn’t prolong the agony any longer when it was clear baby was affected. If I had been in any doubt, I would have had the diagnostic test. A limited post mortem confirmed T18 and also the baby had an exomphacele, basically organs and intestine on the outside of its stomach. This is often seen in conjunction with chromosome problems and can sometimes be picked up on a scan - mine wasn’t. Just thought I’d mention that.

I hope that as your NT is absolutely normal, this is just a false alarm for you.

I can add that we have gone on to have an unaffected baby, the NT was 1.6mm, NIPT low risk and my combined screening was 1 in 5000 for all. I couldn’t quite understand that as I was 39 by that point and thought my age related risk would make it higher.

any questions just ask. ARC are very good and have lots of case studies on their website which I poured over x

Original poster
Alwaysanna · 29/12/2024 11:16

MrsScotland · 29/12/2024 09:37

Hi OP

You might have read my story on here when searching for info. We lost a baby to T18 (Edwards) last year. It was very obvious from our 12 week scan that baby was affected. The NT was 8-8.5mm. There was the appearance of a cystic hygroma. My combined test came back 1 in 8 for T21 and 1 in 5 for T13/18.

i had the NIPT and it came back high risk for T18. I’m not an expert but I think it’s pretty accurate.

I was booked in for CVS but the Fetal Med Consultant agreed that baby was very unwell and was willing to authorise the TFMR to begin then. I had been in limbo for two weeks by then and just couldn’t prolong the agony any longer when it was clear baby was affected. If I had been in any doubt, I would have had the diagnostic test. A limited post mortem confirmed T18 and also the baby had an exomphacele, basically organs and intestine on the outside of its stomach. This is often seen in conjunction with chromosome problems and can sometimes be picked up on a scan - mine wasn’t. Just thought I’d mention that.

I hope that as your NT is absolutely normal, this is just a false alarm for you.

I can add that we have gone on to have an unaffected baby, the NT was 1.6mm, NIPT low risk and my combined screening was 1 in 5000 for all. I couldn’t quite understand that as I was 39 by that point and thought my age related risk would make it higher.

any questions just ask. ARC are very good and have lots of case studies on their website which I poured over x

Thank you for sharing your story. I’m also happy that you went on to have a healthy baby ☺️
nothing was picked up on the scan, so hoping that’s a good sign.
I’m keeping everything crossed, I’m trying to stay positive that there is still a 50% chance everything is ok.

OP posts:
CB1209 · 29/12/2024 11:35

@Alwaysanna im so sorry you’re going through this. I’ve posted on here a few times - I had greater than 1 in 2 although for t21. Scans and nt all normal. Then i had high chance nipt, abnormal cvs which was then contradicted by a normal amnio and my healthy little boy is 1 next week. It’s an awful wait for results, I really feel for you but just wanted to post my story in case it helps, especially as I too had normal scans and NT. btw mine was because of abnormalities in the placenta which corrected themselves as the fetus developed - it’s rare but can happen x

Original poster
Alwaysanna · 29/12/2024 14:05

CB1209 · 29/12/2024 11:35

@Alwaysanna im so sorry you’re going through this. I’ve posted on here a few times - I had greater than 1 in 2 although for t21. Scans and nt all normal. Then i had high chance nipt, abnormal cvs which was then contradicted by a normal amnio and my healthy little boy is 1 next week. It’s an awful wait for results, I really feel for you but just wanted to post my story in case it helps, especially as I too had normal scans and NT. btw mine was because of abnormalities in the placenta which corrected themselves as the fetus developed - it’s rare but can happen x

Thanks for sharing.
that’s interesting as I have low Papp-a which is to do with the placenta and I have been prescribed asprin for that. Hoping it is just this which has given the high result.
so happy there was a positive outcome for you 😊

OP posts:
Margaretschlege · 29/12/2024 14:09

I can't believe the nhs is still doing this stressful screening with 1 in 10, 1 in 30 odds that could go either way. The NIPT should be offered to everyone as an initial step. My fingers are crossed for you, OP.

kaos2 · 29/12/2024 14:12

Usually results are off for a reason . This was me 14 years ago and the CVs came back clear and we were told my son was fine .. he appeared fine at birth but does have fairly severe learning difficulties. There are 100' s of unknown genetic issues that don't have names that cause issues .. I'd have the micro array and amnio if you want a clearer answer . Life with SN is hard !

Original poster
Alwaysanna · 29/12/2024 15:09

Margaretschlege · 29/12/2024 14:09

I can't believe the nhs is still doing this stressful screening with 1 in 10, 1 in 30 odds that could go either way. The NIPT should be offered to everyone as an initial step. My fingers are crossed for you, OP.

I completely agree with this

OP posts:
Pinkywoo · 29/12/2024 15:34

My dates were slightly out with DS2 so it was too late to get a NT measurement, but the blood test came back as 1 in 4 chance of down syndrome. I had an amnio as it was the only way to get a definite answer, and it came back negative for all abnormalities, and DS2 is now nearly 3 and very healthy.

If you do decide to go for the amnio, please don't be scared, the staff were wonderful and it wasn't painful, just some pressure. Fingers crossed for you Flowers

Original poster
Alwaysanna · 29/12/2024 16:15

Pinkywoo · 29/12/2024 15:34

My dates were slightly out with DS2 so it was too late to get a NT measurement, but the blood test came back as 1 in 4 chance of down syndrome. I had an amnio as it was the only way to get a definite answer, and it came back negative for all abnormalities, and DS2 is now nearly 3 and very healthy.

If you do decide to go for the amnio, please don't be scared, the staff were wonderful and it wasn't painful, just some pressure. Fingers crossed for you Flowers

Thank you. I have heard mixed reviews about it, but ultimately a bit of discomfort for clear answers will be worth it.
glad it was a positive outcome for you in the end 😊

OP posts:
Original poster
Alwaysanna · 02/01/2025 14:09

After being told we needed to wait 7-14 days for the nipt results, we got the phone call 6 days later.
sadly it has come back as a high risk for Edwards syndrome. We now need to get an amino for official confirmation and diagnosis.

OP posts:
Wallacewhite · 02/01/2025 14:23

I'm sorry to hear that OP, I hope the amnio goes your way x

purplespink · 02/01/2025 17:36

@Alwaysanna I'm praying that the amnio goes your way, I'm so sorry you're in this position.

Lulumamabear · 02/01/2025 18:13

@Alwaysanna so sorry you're having such a stressful time, sending hugs and positive vibes your way. There's a charity called SOFT UK which provides support and information around Edward's and Patau if you need it xx

Original poster
Alwaysanna · 02/01/2025 20:39

Lulumamabear · 02/01/2025 18:13

@Alwaysanna so sorry you're having such a stressful time, sending hugs and positive vibes your way. There's a charity called SOFT UK which provides support and information around Edward's and Patau if you need it xx

Thank you. I will check it out tomorrow xx

OP posts: