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Pregnancy

Talk about every stage of pregnancy, from early symptoms to preparing for birth.

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Original poster

1 in 17 risk of Down syndrome

26 replies

Shopaholic29 · 28/06/2023 18:14

Hi everyone.
Looking for anyone who has been through similar recently and of the outcome.
Age 33 with 2nd pregnancy, had 12 week scan last Friday 13w4d and all looked great, little baby wiggling round.
Today got the call to say risk of downs was high at 1in 17. NT measurement was normal on the scan.
Been booked in for the NIPT test first thing tomorrow. Just wasn't expecting this result at all.

OP posts:

38andtrying · 28/06/2023 18:19

I haven't been through this but I am so sorry, how worried you must be, fingers crossed it is nothing and the nipt comes back clear, try not to read too much and scare yourself, praying for positive outcome for you

Jomummy1013 · 28/06/2023 18:27

I had a greater than 1 in 5 for one of my babies but the baby was fine and didn't have Downs. Good luck x

Jomummy1013 · 28/06/2023 18:27

I had an amniocentesis x

GeriatricMumma · 28/06/2023 18:28

My cousin had a 1 in 5.
She was maybe 25 at the time. She thought long and hard but continued with pregnancy and baby was not born with Down syndrome.

Have you been offered any further advise or tests? X

Throwncrumbs · 28/06/2023 18:28

I was 38 when I had my daughter, the risks were high but I had all the scans, measurements etc. Discussed with my consultant ( I was a geriatric mum to be lol) and he said that everything looked fine , he wasn’t worried so I accepted his word. I did not have an amniocentesis because I had had 3 miscarriages before this pregnancy and because I felt reassured by him I said I didn’t want one. It was a stressful 9 month pregnancy and her birth was traumatic (emergency c section) but she was ok. I think scans are much better nowadays and blood tests sre more advanced. She 24 now 😀good luck

Dazedandc0nfused · 28/06/2023 18:45

I understand that this must be worrying. We had a 1 in 16 result and NT measurements were normal. Our baby was fine. If it helps, when we got the result we tried to look at it as a percentage of our baby not having Down Syndrome were nearly 94%. That helps us through the next few weeks until we knew for sure.

I wish you all the best with your pregnancy x

Original poster

Shopaholic29 · 28/06/2023 18:55

Thanks everyone for replying and helping me to not be as pessimistic as I am feeling right now. It's just something that has never crossed my mind before of happening. No idea what I will do if the NIPT comes back high chance too. I need to try and keep my mind as positive as possible until the results are back in!

OP posts:

ridingsolo · 28/06/2023 19:03

The NIPT test will give you a definitive answer, do you know why you were given that score? Was it your hormone levels?

Original poster

Shopaholic29 · 28/06/2023 19:09

@ridingsolo

I don't know why, it was done over a phone call, so they only provided the actual statistics for downs, but just said it's due to a combination of factors. I will ask at tomorrows appointment. If your hormone levels are high can this throw results?

OP posts:

NatGee · 28/06/2023 21:32

@Shopaholic29 the blood tests they do pick up on fetal dna that has intermingled with your own blood. So yes, the more of it you have the better but your own hormones wont impinge on the results. The combined test you had done is only about 85% accurate whereas the nipt is higher at 95-99%. Take comfort however that the combined test could have been wrong and that the nipt will give you a more deifnitive answer. Good luck!

Original poster

Shopaholic29 · 29/06/2023 09:59

@NatGee thank you!

Had the nipt test done this morning, and just got to wait till around Friday next week for the results.
The results from the combined screening were:
Hcg - 4.48
NT - 1
Papp-a 0.43
She said the high hcg and lower Papp-are the reason for the result. Risk based on age alone is 1in350!

OP posts:

Junibug · 29/06/2023 10:15

Just to correct some earlier posters - the results from an NIPT do NOT give you a definitive answer. They are not designed to do that. Please be aware! The only tests that do give a yes or no are either a CVS or an Amniocentesis, as they test the actual dna.

Hope all goes well OP x

NatGee · 29/06/2023 10:18

@Junibug Yes that's right. The NIPT is not a diagnostic test, its a screening test. Just didnt want to alarm the OP further as a NIPT will give a very very good indicator of what is going on. The OP will be advised to have an amnio, most likely, should results not be favourable however that's a bridge still to be crossed and she may not get to that point. Wishing the OP every good fortune

DustyLee123 · 29/06/2023 10:20

I was told high risk, had an amino, and he was fine. Good luck 🤞🏻

GraciousB · 29/06/2023 10:34

I had almost exactly these results 2 years ago- my high risk was solely driven by the hormone results too and my HCG was even higher at 6. The wait for the NIPT result was horrible, but it ended up being low risk and my daughter is absolutely fine. It's difficult not to assume the worst, but there is a much higher chance (16/17) that everything will be fine. Be kind to yourself during this wait and try to stay positive if you can.

Original poster

Shopaholic29 · 29/06/2023 10:49

Thanks everyone - aware it is just diagnostics that the nipt can give, I did ask the midwife what the average person would go for given the result, and she said now that they offer nipt as standard after high results, 95% of ladies go for this. Amino would be offered if the result of nipt came back high risk.

@GraciousB what wee your odds if you don't mind me asking. I am trying to look at as 16/17 chance of all being okay, but it's hard to have that positive outlook at this stage!

OP posts:

GraciousB · 29/06/2023 11:29

@Shopaholic29 I think I was 1 in 23. I was very shocked as my first pregnancy was something like 1 in 10000. I had consultant lead care for a different reason and I asked him about what caused the abnormal hormones after I got the low risk NIPT- he just shrugged and said sometimes it happens

GreenOpal · 17/07/2023 13:35

Hi, I was 1 in 7 and got my results from the NIPT last week as low chance.
It was a difficult waiting time, but I think the research we did as parents raising a child with Downs and existing communities for possible support was really what helped, so that whatever the outcome we had some sort of peace of mind and knew what to expect.

Hope that whatever happens, you're all good and know that there's no right or wrong way to go about things in this situation, you just have to focus and do what's best for yourself and your family x

Original poster

Shopaholic29 · 17/07/2023 17:03

Thanks @GreenOpal
I did get my results back from the nipt as low risk for all three trisomies. It was a worrisome wait and I suppose there's always that niggle of doubt as the nipt isn't 100%, it's not a diagnostic.

OP posts:

GreenOpal · 18/07/2023 00:40

No problem @Shopaholic29 If it helps, the standardised NHS NIPT test (Sorry, assuming you're UK based) is now the Harmony brand of testing, which is 99% in accuracy compared to the tests they used up until a few years ago. But totally get the niggles, I'm the same!

Sfh0412 · 21/08/2023 17:41

Hi all - new to mums net and can’t work out how to start my own thread so hope you don’t mind me adding onto here
I’m 13 weeks - 35yrs old and just got back a result of 1 in 53 Down’s syndrome.
the NT measurement was 3.1mm
im absolutely gutted - had the nipte but have a long 5-10 working days wait ahead

I don’t know which result I’m looking at for hcg and Papp-a.
my hcg says 2.10 MOM - 90.98 iu/l
and pap-a 1.74 mom- 5.96 iu/l

if anyone could advise of these would be grateful

Original poster

Shopaholic29 · 22/08/2023 06:39

Hi @Sfh0412
So sorry you are going through this, it's such a stressful wait!
I think the hormone results go off the MOM figure. I was told figures of around 1 for both were 'normal' . I think low Papp-a is anything under 0.4, so your results look fine.
I think age is a big factor in the results, and based on age alone the risk increases. I'm not sure what the range for the NT is but maybe yours is slightly high, so I'm guessing this and age is why you have come back high risk.
The odds are in your favour and try to keep as busy as possible during the wait, easier said than done!

OP posts:

Sfh0412 · 22/08/2023 07:24

Thank you! It’s horrible wait isn’t it ! I’ve called in sick to work as I work with babies and new mums all day - I just don’t feel I can be very strong for them right now. but have some annual leave next so should keep me busy.

Mf1989 · 17/01/2024 19:55

Hey, if you don’t mind me asking, were your results low? Thanks

Trinity69 · 17/01/2024 19:58

With my second I was told 1/35. I had an amnio and all came back fine. I also wasn’t expecting it and had forgotten they’d even check. The phone call knocked me off my feet but the outcome was fine. Try not to worry. x

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