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High risk for Down syndrome and Edwards and Pataus

59 replies

SAJ70 · 02/11/2022 22:24

I am 14w 3d today and I received my blood results from my 12 week appointment, they have come back high risk of downs edwards' and Pataus' it also showed Low PAPP-A.
My scan seemed fine baby was measuring 12w5d NT 1.6mm
I am 27 years old and first baby.
3 previous MMC
.

Down syndrome 1 in 93

Edwards and Pataus 1 in 28

Papp-A 0.11

I am literally going out of my mind googling at reading different things and nothing seems positive.
I've got to go back this Friday for NIPT testing. Has anyone else gone through this ?

OP posts:
SAJ70 · 07/11/2022 12:06

firsttimemammy92 · 07/11/2022 12:02

I just want to say I had a phone call this morning and got the all clear for all chromosome abnormalities. Can’t believe it I feel so blessed. Husband and I can’t stop crying after the week from hell.

wishing health and happiness to all others going through this

That's amazing news, try and enjoy your pregnancy now, your little baby be here before you know it 🥰

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theremustonlybeone · 07/11/2022 13:43

firsttimemammy92 amazing news and a big congratulations from me

SAJ70 · 07/11/2022 19:28

Been an absolute mess tonight, this wait is really getting me down.
Been looking at my notes and it says Hcgb mom 0.70 is this considered low ?

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ncforyetanotherone · 08/11/2022 21:09

Just came on the thread to see how you are. The wait is awful! It may sound trite but anything that can help distract you?

I remember going over and over my notes and comparing it to a friend's whose combined tests were fine.. it was a horrible few days. On day 3 I called them as just couldn't stand waiting any more and they had the bloody results!! Not sure how long they'd had them but I found out when I chased that we were all clear.

Keeping my fingers crossed for you and your little 15 week old baby to have an equally happy result xx

SAJ70 · 08/11/2022 21:12

ncforyetanotherone · 08/11/2022 21:09

Just came on the thread to see how you are. The wait is awful! It may sound trite but anything that can help distract you?

I remember going over and over my notes and comparing it to a friend's whose combined tests were fine.. it was a horrible few days. On day 3 I called them as just couldn't stand waiting any more and they had the bloody results!! Not sure how long they'd had them but I found out when I chased that we were all clear.

Keeping my fingers crossed for you and your little 15 week old baby to have an equally happy result xx

Not gonna lie it all hit me pretty hard today I cried so much, hopefully I'll get some answers tomorrow.
If I'm honest I can't see it being a good outcome I'm pretty certain it's going to come back as edwards, my Papp A is low 0.11 mom and bHcg 0.70 mom and that's a major red flag for edwards.

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SAJ70 · 09/11/2022 12:28

Just had a phone call from the hospital, and apparently the robot in the lab has broke and is awaiting for a part, so my results are going to be delayed another week ! I'm so frigging frustrated!!!

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CristinaNov182 · 09/11/2022 14:16

@SAJ70 - ah, this is frustrating :(
and they only let you know now, when I think the results were due

PinkButtercups · 09/11/2022 14:29

Oh no. That's absolutely rubbish. Can they not send them off anywhere else?

CristinaNov182 · 09/11/2022 14:35

@PinkButtercups i think there would be too many too send, other labs might be busy too, plus there is the risk of more issues happening during the transport

AperolWhore · 09/11/2022 14:38

Can you afford to go get the Nipt test? It’s 99.9% accurate and will give you the reassurance you need.

SAJ70 · 09/11/2022 14:38

PinkButtercups · 09/11/2022 14:29

Oh no. That's absolutely rubbish. Can they not send them off anywhere else?

I'm not sure if I'm honest, I did t really think to ask they said they are awaiting on a part for the robot, and the results will be in as soon as Monday/Tuesday.
I just don't understand how this wasn't mentioned to me sooner, when I seen the no caller ID on my phone I prepared myself for the results not this, my stomach sank !

OP posts:
SAJ70 · 09/11/2022 14:38

AperolWhore · 09/11/2022 14:38

Can you afford to go get the Nipt test? It’s 99.9% accurate and will give you the reassurance you need.

That's what results I'm waiting on.

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SAJ70 · 09/11/2022 14:39

CristinaNov182 · 09/11/2022 14:16

@SAJ70 - ah, this is frustrating :(
and they only let you know now, when I think the results were due

I just don't understand how this wasn't mentioned to me sooner, when I seen the no caller ID on my phone I prepared myself for the results not this, my stomach sank !

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ncforyetanotherone · 09/11/2022 23:01

So frustrated for you!! Argh!

LifeIsBusy · 10/11/2022 10:55

I hope you're not worrying too much. Remember the odds are very much on your side as they've only suggested a 3.5% chance of Edwards.

Rise4 · 11/11/2022 20:21

Hello everyone I am in very much difficult position and I hope some of your experiences can help. I have had my 12 weeks scan and bloods. Bloods and scan was fine. They just said there is a little extra fluid around baby’s brain which isn’t worrying just to be cautious they wanted to do another scan. I couldn’t wait and went did a private NIPT testing and it came back as high risk for PATAU syndrome. I have amniocentesis now booked in 2 days. I am so nervous and scared!!!! Fact that NIPT came back as high risk really scares me.

anyone in same situation???

CristinaNov182 · 11/11/2022 21:42

@Rise4 while nipt is very accurate when it gives a low risk, it has a higher rate of false positives.

see here a woman who got high risk from nipt but baby was fine

www.mumsnet.com/talk/antenatal_tests_choices/4405691-NIPT-false-positive-for-T18

nipt is still just a risk assessment, amnio and cvs are the only proper diagnosis tests

good luck with yours x

Rise4 · 11/11/2022 21:55

Thanks it’s just really frustrating. I have had 3 miscarriages I am beyond anxious this time.

SAJ70 · 11/11/2022 22:00

Rise4 · 11/11/2022 21:55

Thanks it’s just really frustrating. I have had 3 miscarriages I am beyond anxious this time.

I know exactly how you feel, I had 3 previous MMC and never made it past 8 weeks, I am 16 weeks tomorrow I've never made it this far in a pregnancy before and I've never wanted something so much in my life, and now this has happened 1in28 just don't sound good to me and I've ready so many similar stories like mine and not many of them have been positive.

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Rise4 · 12/11/2022 11:01

I just hope we get good news. Good luck and please pray for me

SAJ70 · 14/11/2022 14:04

Update: NIPT came back clear !! I can't stop crying x

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Nongatron · 14/11/2022 14:07

That’s wonderful news hooray !!!! Now you can relax and enjoy the rest of your pregnancy. Really happy for you 💐

theremustonlybeone · 14/11/2022 14:08

Woohoo! Congratulations I know that feeling off absolute relief and excitement

bluebird3 · 14/11/2022 14:12

Just found your thread and I'm so happy to see your good news. Hope you have a smooth rest of your pregnancy!!

CristinaNov182 · 14/11/2022 14:17

Congrats, hope you get to enjoy he rest of your pregnancy now x