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Original poster

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:
ncforyetanotherone · 02/11/2022 22:31

Yup I had a 1:19 for downs and have a 4yo who definitely doesn't have it. NIPT showed low risk and I had a cvs. My NT was also well within range but hormones were out of whack (and the combined tests are bs). Good luck x

Original poster
SAJ70 · 02/11/2022 22:36

ncforyetanotherone · 02/11/2022 22:31

Yup I had a 1:19 for downs and have a 4yo who definitely doesn't have it. NIPT showed low risk and I had a cvs. My NT was also well within range but hormones were out of whack (and the combined tests are bs). Good luck x

That's amazing!
It's worrying me as NT was within grange and my age is low.
Plus I'm high risk on all 3.

Honestly getting so worked up about it all I've just got a bad feeling.

OP posts:
PinkButtercups · 02/11/2022 22:50

Sorry to hear you're anxious.

One of the ladies I am on a group with was in a similar position to you and they've got the all clear.

Although you're at a higher risk doesn't necessarily mean your baby will definitely have these conditions.

Fingers crossed for you all xx

CristinaNov182 · 03/11/2022 12:41

First time I got 1:150, 2nd time 1:77. Nipt gave me low risk for both. I didn’t do any other tests after. My DD is 4 and fine.

I think it’s just the nipt that gave you the high risks for all

I also had low Papp-a. they have me daily aspirin with evening meal, 150mg starting at 12 weeks. Plus extra scans bc on its own, low Papp-a gives risks of preeclampsia, growth restriction and static growth (no growth) - I had these, plus preterm birth or still birth. apart from low nipt, everything else was fine for the first pregnancy, second pregnancy I also had raised hCG. My Papp a was 0.45 the first time and 0.67 the 2nd time around (which technically is ok as over 0.5)

if you’re already 12 weeks talk to them asap, as it’s best to start aspirin now, or might not help as much if you start later. And not at all if you start after 16 weeks.

good luck with your nipt result

CristinaNov182 · 03/11/2022 12:42

*just the low Papp-a that gave you the risk for all

CristinaNov182 · 03/11/2022 12:46

Also as you had previous mmc, after you have this one, if you decide to try for a second one ofc, it might be worth looking into and asking a dr if you could take nac and aspirin from the moment you try conceiving, or before. I know it’s given in many cases .

Original poster
SAJ70 · 03/11/2022 12:49

CristinaNov182 · 03/11/2022 12:46

Also as you had previous mmc, after you have this one, if you decide to try for a second one ofc, it might be worth looking into and asking a dr if you could take nac and aspirin from the moment you try conceiving, or before. I know it’s given in many cases .

I asked about aspirin when I first found out I was pregnant and they said I wouldn't need it, they have put me on cyclogest which I need to take until I'm 16w, I'm going back tomorrow for my NIPT bloods so I'm going to ask them about aspirin when I'm there.

OP posts:
ncforyetanotherone · 03/11/2022 22:42

It's hard to not feel it's going to be the worst. Keep us posted (if you want!) - I honestly wouldn't trust the combined tests at all. The NIPT is way more reliable x

ncforyetanotherone · 03/11/2022 22:43

CristinaNov182 · 03/11/2022 12:41

First time I got 1:150, 2nd time 1:77. Nipt gave me low risk for both. I didn’t do any other tests after. My DD is 4 and fine.

I think it’s just the nipt that gave you the high risks for all

I also had low Papp-a. they have me daily aspirin with evening meal, 150mg starting at 12 weeks. Plus extra scans bc on its own, low Papp-a gives risks of preeclampsia, growth restriction and static growth (no growth) - I had these, plus preterm birth or still birth. apart from low nipt, everything else was fine for the first pregnancy, second pregnancy I also had raised hCG. My Papp a was 0.45 the first time and 0.67 the 2nd time around (which technically is ok as over 0.5)

if you’re already 12 weeks talk to them asap, as it’s best to start aspirin now, or might not help as much if you start later. And not at all if you start after 16 weeks.

good luck with your nipt result

I also had preterm birth (5 weeks) with low papp-a (also had high hcg)

Original poster
SAJ70 · 03/11/2022 22:44

ncforyetanotherone · 03/11/2022 22:42

It's hard to not feel it's going to be the worst. Keep us posted (if you want!) - I honestly wouldn't trust the combined tests at all. The NIPT is way more reliable x

I'm honestly dreading it!
Nothing was mentioned at my scan, no abnormalities mentioned, and I'm only 27 !
So I can't help but think there is something g wrong .

OP posts:
ncforyetanotherone · 03/11/2022 22:54

I remember this pain oh so well! Try to keep busy over the weekend to distract yourself as much as possible. The waiting game is the worst. Keep taking here if you want to Smile

Original poster
SAJ70 · 03/11/2022 22:57

ncforyetanotherone · 03/11/2022 22:54

I remember this pain oh so well! Try to keep busy over the weekend to distract yourself as much as possible. The waiting game is the worst. Keep taking here if you want to Smile

Thank you, I'm gonna try and keep myself busy. Hope you don't mind me asking but what was your outcome and what odds did they give you? X

OP posts:
LifeIsBusy · 03/11/2022 23:08

Flip those ratios into percentages... You'll feel much better knowing the odds are still massively in your favour.

I did not come back high risk for any of those but had a LO with talipes diagnosed at 20weeks. I worried like mad and now I laugh 🤣. I worried about all sorts and it was the only thing I could think about.

Stay calm and enjoy your pregnancy

Original poster
SAJ70 · 04/11/2022 11:57

Just had the bloods done, will receive results next week, it's going to be one long week.
Can't help but think the worst.

OP posts:
CristinaNov182 · 04/11/2022 12:07

@SAJ70 i know it’s going to be hard, been there twice :/

try to distract yourself, not easy but do as much as you can. Books, walks, tv, pamper yourself, etc

have they said anything about aspirin?

fingers crossed for you x

Original poster
SAJ70 · 04/11/2022 12:09

CristinaNov182 · 04/11/2022 12:07

@SAJ70 i know it’s going to be hard, been there twice :/

try to distract yourself, not easy but do as much as you can. Books, walks, tv, pamper yourself, etc

have they said anything about aspirin?

fingers crossed for you x

I'm going to try and keep as busy as possible.
Yes I asked them about it and apparently they forgot to give it to me Tuesday! How they forgot I do t know.

OP posts:
theremustonlybeone · 04/11/2022 12:13

My last pregnancy I was advised my risk was 1:4 DS and 1:10 Edwards

Had a CVS procedure and my DS is absolutely fine. My nephew has DS and my sister was low risk with the blood tests so fingers crossed all goes well for you.

IrisM22 · 04/11/2022 12:18

When pregnant with my now 8 week old, we were told he had a 1 in 13 chance of having Down's Syndrome. I decided on the amniocentesis procedure to find out for sure. The wait for the results was absolute hell but thankfully we received the news that he didn't have DS and we found out his sex.
You have my sympathies, I know how horrendous the wait it and I hope you receive good news.

Original poster
SAJ70 · 04/11/2022 13:03

theremustonlybeone · 04/11/2022 12:13

My last pregnancy I was advised my risk was 1:4 DS and 1:10 Edwards

Had a CVS procedure and my DS is absolutely fine. My nephew has DS and my sister was low risk with the blood tests so fingers crossed all goes well for you.

I'm so happy your results came back fine.
I'm praying to god mine will be the same, did you also have NIPT ?

OP posts:
firsttimemammy92 · 04/11/2022 22:00

Hi everyone. I’m sorry if I’m not posting this I’m the correct place I’ve never used this website before. I’m looking for some advice.

I am 30 y/o and 16 weeks pregnant today with my first baby. I’m happily married and knew I wanted to wait to 30 before kids.

I was told on Tuesday following my 14 week bloods that I have a 1-5 chance of our baby having downs. To say I am heartbroken and devastated is an understatement.

Lucky enough after the phone call I was able to go straight to hospital for a harmony test. I’ve done nothing but cry, my husband is very supportive and wants this baby regardless as do I but my heart is broken.

baby wasn’t able to be measured at my 12 week scan ( I was actually 13) as it was moving about so much and nothing was mentioned about any abnormalities, baby looked so active and healthy.

On weds i went for my 16 week private gender scan (we where supposer to have our reveal party this weekend, how cruel) anyway the lady who does the scan also works for the NHS and after seeing how upset i was promised to tell me if she seen anything indicating downs, she didn't and checked everything including heart, spine etc.

I also know now that scans are not accurate. Am i clutching at straws? Ive since watched a lot of content about downs babys on tiktok.

I know i will keep this baby regardless but its just not what i had imaged.

I'd like to hear any advice from others who have been through the same. Thank you

High risk for Down syndrome and Edwards and Pataus
firsttimemammy92 · 04/11/2022 22:12

I forgot to mention I get my test results on Monday

thejadefish · 04/11/2022 23:19

@firsttimemammy92 I came back as high risk for downs at the 12 week combined test in both my pregnancies. Had NIPT both times, both times low risk result, both children fine. It's largely based on statistics at the end of the day, which is why you need the further test. It doesn't really reflect where you personally/specifically fall (I'm phrasing this badly). I know it's a bit of a useless suggestion but please try not to worry so much. Weirdly what helped me during the wait for results was thinking that whether or not my baby had downs was something that was "decided" weeks ago and all I was doing now was waiting to find out, I'd done what I could i.e. NIPT and it was now out of my hands. Good luck for Monday, sending you a virtual hug 💐

Good luck to you too OP - with mine the nuchal measurement was fine so for me personally it was likely my age and the other measurements that set me up as high risk. As such I suspect that that the nuchal measurement is a slightly higher indicator (completely guessing though). It's statistics and doesn't necessarily mean anything for you as an individual/it's not diagnostic. Fingers crossed for you xx

firsttimemammy92 · 04/11/2022 23:37

Thank you so much.

I’ve managed not to cry today thinking well you know what downs is caused right at the very beginning when the sperm meets the egg and is it’s meant to be it will.

im so happy your baby’s are healthy that’s amazing 💝

ncforyetanotherone · 05/11/2022 22:34

Thank you, I'm gonna try and keep myself busy. Hope you don't mind me asking but what was your outcome and what odds did they give you?

1:19 for downs. DC is 4 now and perfectly healthy (and NT) and bright as a button.

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