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Antenatal tests

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Original poster

1 in 23 chance of Down syndrome

24 replies

inkworks273 · 10/01/2023 11:37

I'm currently waiting on the results of nipt.

My results were

NT 2.3mm
Papp-a 0.51 MoM
Hcg 2.54 MoM

I'm 36.

Can anyone explain what in my results is causing the high risk result?

OP posts:

CristinaNov182 · 10/01/2023 12:31

Age + hCG mainly. Slightly the Papp-a and the NT, though within limits they are not “perfect” (1 mom)

if in uk, you should have been offered the nipt test for free. That should clear everything up. I wouldn’t be worried but I’d do the nipt.

Original poster

inkworks273 · 10/01/2023 13:49

Thank you @CristinaNov182

Yes I got the nipt through the nhs yesterday. They said it would take a week to get the results back. Feel like I'm in limbo.

OP posts:

CristinaNov182 · 10/01/2023 14:09

Yes, I know how you feel. Got high risk in both my pregnancies but nipt cleared both.

Just try to distract yourself as best as you can, even if it’s for short periods of time, books, movies, baths, chocolate, etc.

The chances are in your favour so keep that in mind. High risk also happens more often to “older” mums as even without DS or other issues, the blood tests can be less than perfect. I was 38 and now 42 and don’t feel old, but I know I’m considered “geriatric” :)

good luck and hope you get your results quickly

Signin1981asdad · 11/01/2023 09:37

My wife's results were very similar, she is 34. I spent days reading and researching medical journals and studies. She was 1 in 20 at the combined test. NIPT came back as lower chance. We really regret providing bloods, the NT and other indicators such as sight of a nasal bone if possible are enough of an indicator for those parents who wouldn't consider a termination unless it was essential given all circumstances (risk to life of baby and mum or serious complications after birth). The stress waiting for results was unbearable, it wasn't worth it. I can't remember experiencing such heightened level of stress like it. If there is a complication it will be discovered down the line anyway, so why the NHS covertly (it felt that way as we were not given all the information or facts on how the software makes it's decision) gets mum's to provide bloods is not correct in my opinion. There are many reasons for up/down hormones not just chromosomal disorder risk. I feel like the screening process needs more data to increase the efficacy of the screening programme (which creates jobs, research investment, and private sector incentives). But what about the stress of giving a mum a high risk score when in fact the "real" risk is low. 1 in 20 means you been moved from a 1 in 350 chance (I think, based on your age) to a 1 in 20 chance. What does this mean in % terms, well you were a less than 0.5% and now are a less than 5%. Not enough to warrant a "high risk" category in my opinion. So don’t worry, from what I have read given your NT over 90% of babies are born fine. Nothing is guaranteed in life and especially in birth which is such a complex and wonderful feat ( I believe in God and think its miraculous). So don't allow the mind to wonder and focus on the small % that your baby is abnormal, there is no such thing as 100% in life. My thoughts are with all those parents who raise their children with disabilities and disorders. They are incredible people and all deserve immense praise. We pray their children develop to be independent and determined to be happy no matter what the obstacles.

Original poster

inkworks273 · 12/01/2023 09:15

Thanks @Signin1981asdad I agree it's such a stressful situation to be in. It's so hard to think about anything else. If I could do it all over again I would have had the nipt earlier in the pregnancy to save all this worry.

OP posts:

Mimmi22 · 14/01/2023 14:06

Thinking of you @inkworks273

I had similar results - my NT was higher at 3.3mm (although still inside the NHS “normal”) and my screening chance was 1 in <5. My NIPT came back low chance. I’m 36.

My HCG was around 3 MoM and my PappA a little closer to 1 MoM - I didn’t have the exact numbers written down.

The midwife said high HCG itself isn’t anything to worry about and some women just have naturally high levels. Interestingly, we’ve since found out we’re expecting a girl and I’ve seen others flagged on this test for HCG who are also having a girl.

The waiting is for a result is awful. I hope it all works out for you whatever the result.

Original poster

inkworks273 · 14/01/2023 16:13

Thanks @Mimmi22

This has honestly been one of the hardest weeks of my life. I go between thinking everything will be fine to complete panic. Just wish I could fast forward to getting the results.

Thanks for sharing. I'm so glad everything worked out for you.

OP posts:

Original poster

inkworks273 · 16/01/2023 20:34

My results came back low risk!! I'm so relieved.

OP posts:

CristinaNov182 · 16/01/2023 20:39

Congrats! Hope you can have a stress free pregnancy from now on x

Mimmi22 · 16/01/2023 20:52

Glad you got the results you were hoping for @inkworks273 !! Treat yourself to something nice this week and I hope the rest of your pregnancy goes well.

yarnmum · 23/08/2023 16:04

Hi, just thought I would share my experience. I have 4 children already, my eldest being 20! I am having a surprise pregnancy at 42 years old. We were given the NHS screening test which came back at 1:18 and NF was 2.99 mm.

I refused amnio due to risk of miscarriage and opted for NIPT instead Came back as high risk. I have researched and researched and researched and accepted baby will have DS. We are under care of fetal medicine and baby is doing fabulous. Currently 30 weeks. I experienced fear, anxiety, cried lots etc at first but have now accepted it and am actually excited. She is just a baby at the end of the day and will just be a different journey with this one. I am determined to make it work and for her to have a full and happy life xxx

AvaSRC19 · 05/09/2023 12:08

I've just came back as 1 in 124 and waiting on my NIPT can't even explain the levels of anxiety.

Mimmi22 · 05/09/2023 13:58

@AvaSRC19 it’s a very stressful wait but your odds are still good. I had a 1 in less than 5 for Down syndrome and gave birth to a baby earlier in the year who is “normal” chromosome-wise. I downloaded Candy Crush and just played that relentlessly while I was waiting for the result to stop myself doom scrolling. :)
Fingers crossed it all works out for you!! 🌸

AvaSRC19 · 05/09/2023 14:08

No I know you're right odds are in my favour. Glad your baby was healthy.
I think it was just a bit of a shock.

My NT was 2.6mm
And HCG 3.72 corr mom
And Pappa was normal

Just a waiting game

Mimmi22 · 05/09/2023 15:36

It’s definitely a big shock, agreed.

Looks like your high HCG throwing things out - same as what we had with a normal PappA,
but my NT was 3.3mm to up the odds. The midwife told me that sometimes HCG levels can just be high for no reason - not sure if that’s reassuring or not.

curliegirlie · 08/09/2023 19:14

@yarnmum congratulations on your pregnancy! I'm now 8 years into this journey and my DD has just had her first week at mainstream junior school!

If you haven't found them already, the Down's Syndrome Association has some great resources for prospective parents as well as contact details for local support groups. The Positive about Down's Syndrome Website and FB groups also offers various support networks which are great during pregnancy and in the overwhelming early days. Future of Down's is another great Facebook group.

Good luck and welcome to the club!

yarnmum · 08/09/2023 19:23

Huge thank you. This is great to hear. They are delivering me early now (problems with me) so our little girl will be here on Tuesday. We are so excited xx

curliegirlie · 08/09/2023 23:08

Wow, good luck and I hope all goes well. How many weeks will you be?

addictedtotheflats · 08/09/2023 23:30

Definitely the HCG and age. Mine was just outside the high risk ratio so had to pay privately for NIPT but my HCG was 9.58 MOM (!!!), papp-a 1.6 MOM, NT 1.8mm

yarnmum · 09/09/2023 11:19

33 weeks so super early. Feeling a tad nervous and calm at the same time . Very strange feeling

curliegirlie · 09/09/2023 16:36

Not quite the same but I was actually a 28 weeker!

And also, do have a look at the photography project DownRight Amazing. There are a few stories there from mums and dads who went through the NICU journey xxxx

curliegirlie · 09/09/2023 16:48

My superstar with the extra chromosome made an appearance at 40+4, so I've not much experience with NICU, although DD1 had an evening there due to jaundice and DD2 had a night there when there they thiought she had a floppy larynx. All the luck in the world and please keep us updated xxx

TwoBlueFish · 09/09/2023 16:55

@yarnmum wishing you all the best for Tuesday. DS1 has Down syndrome and is now 20, he’s a fantastic young man and we wouldn’t be without him. Check out Future of Downs and Positive About Down Syndrome groups on FB.

Mummyo1 · 15/09/2023 07:08

@addictedtotheflats what was your odds if you don't mind me asking? My papp a was a bit low, hcg apparently 3×higher but didn't look as high as yours and my nt was 2.4mm which is in normal range, I'm 28 but do have a bmi so I'm wondering if the hcg and bmi Is the driving factor for me?

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