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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 13 Chance of Down's Syndrome - advice?

16 replies

NellDunnHadItRight · 14/08/2023 19:50

Hi everyone,

I'm 14 weeks pregnant with my second child (we already have a beautiful little girl who is 2) and things were going smoothly until after my sonogram (at 12 weeks 5 days). The NT came back as 2.4, nothing unusual and the baby had a strong heartbeat. The sonographer said everything looked fine. I requested the usual screening tests (DH and I had discussed this beforehand) but wasn't worried about them, my previous pregnancy had been low risk.

However, a week later I got a phone call saying I was high risk for Down's Syndrome (1 in 13 chance) and Edward's and Patau's (1 in 87). This was based on my low PAPP A score of 0.21 and also my age (I'm 39). hCBG wasn't mentioned so I assume it's fine (I should have checked but it was a lot to take in). I decided to go ahead with the NIPT and am now waiting for the results, which should come some time next week.

There's nothing to be done except wait, but I suppose I'm looking for advice and/or reassurance. My husband and I have had some serious discussions and we'll continue with the pregnancy if the baby has DS, however if were Edward's or Patau's we're really not sure what we'd do. The waiting's the worst, if we knew the results for certain we could prepare for whatever they are. I know the odds are 92% everything will be okay, but there are no guarantees.

Has anyone here been in a similar situation? Do you have any advice? Also, if anyone has friends or relations with DS could you tell me a little about what to expect? I've been researching DS and I know it wouldn't be the end of the world but I don't actually know anyone who has it. Thanks all.

OP posts:

Nubnut · 14/08/2023 20:20

Just didn’t want to read and run. I’ve been there, almost the same score as you. All I can say is get a CVS, rally as many people you love around you as possible, fill your diary with nice treats, films, easy books, wherever distracts you before you get the test result, and stay off google whatever you do even if you have to install blocks on your devices. Try not to be alone during the wait. Crossing everything for you.
Ours came back normal, but someone’s got to be the statistic.

vincettenoir · 14/08/2023 20:26

No advice, just wish you all the best.

It might be worth sticking on CBeebies if your dc doesn’t already watch it to see their presenter George. I think he’s been presenting for about 2 years or so now and he’s great - really popular.

Original poster

NellDunnHadItRight · 15/08/2023 22:03

Thank you both for your responses.

@Nubnut I'm glad everything worked out for you. That's great advice, we're doing our best not to dwell on it, but I want to be prepared - as you say, someone has to be the statistic.

@vincettenoir Yes, we see George often, my DD loves Bing and Bluey so we often have Cbeebies on! He's a great presenter. I'm glad he's there, the past few days have made me realise just how little representation there is in the media.

OP posts:

RedJeans · 15/08/2023 22:18

I teach several children with DS who also have severe learning difficulties and/or autism, so sort of the extreme end of the spectrum of Downs! All at our school are without exception real characters, very very cheeky in nature and cracking sense of humour! Most have had health issues (heart and lungs) and some have needed tube feeds when younger but their conditions are well managed and we've successfully got most onto solid food once they're able. Some have very challenging behaviour, possibly due to their dual diagnosis of autism, but I suppose there is always a risk that your child may struggle with emotional regulation and behaviour. Although the kids we teach are possibly seen as some people's "worst case scenario" in terms of the additional complications with Downs compared to the likes of Cbeebies George, they are all such sweethearts!

Best of luck however the result turns out!

Alpacabag22 · 15/08/2023 23:38

I had a similar risk (think it was 1 in 20) and like you it seemed to be largely due to low Pap-a result. NIPT came back low risk. I was a mess during the week long wait, definitely do anything you can to be kind to yourself over next few days.

With the low pap-a I was advised to start taking low dose of aspirin so if your midwife hasn't mentioned that already I would check. Also got extra growth scans at 30 and 36 wks as it can be an indicator for risk of restricted growth, pre-eclampsia etc.

Thankfully so far all has been good, baby growing on track and should be arriving any day. Sending you positve vibes!

ttcat37 · 16/08/2023 07:45

Get a harmony or panorama test if you can afford it. Harmony comes back within a week. NHS wouldn’t do NF measurements at my 12 week scan as I’d had the panorama test which said really low chance of DS, and she said the nhs measurement would be lots higher due to my age.

Nubnut · 16/08/2023 18:23

Another thing to say is if you choose to have a cvs or amniocentesis the risk of miscarriage is usually quite a lot lower than the 1% stated. It depends on the skill of the practitioner, and I think you can access individual stats. From what I read the 1% stat is from old and outdated research and methods.

Jupiteer · 17/08/2023 08:37

Hi there
I had similar results to yours, 1:10 for DS and 1:50 for both Edwards and pataus. I'm 39 as well and have a low Papp-A of 0.15.
I had a NIPT and the wait for this was the most stressful time of my life. Luckily the NIPT came back low risk for all 3 syndromes 🙂 I was still worried and considering CVS so I called and spoke to ARC (Antenatal results and choices), they are a free helpline, spoke to a genetic counsellor who was lovely and had a lot more time to go through everything. In the end I went for a detailed private scan at 16 weeks to see if there were any worrying markers, there were none so we decided against any further tests. I had my 20 week scan last week and all good, no soft markers there either.
The lady at ARC explained the result was likely due to age and papp-A. I'm taking aspirin and having extra scans for the papp-A and all ok so far.
I would also recommend 'low papp-A support group' on Facebook which has lots of positive stories.
Good luck with your results!

Original poster

NellDunnHadItRight · 18/08/2023 11:43

Dear all,

Thank you loads for your advice and stories. @RedJeans thank you for telling me about your experiences - the kids sound like amazing fun. @Alpacabag22 and @Jupiteer I'm so glad everything worked out for you. I know what you mean about the tension, the waiting has been the worst!

I just had a phone call from the nurse who did my test, who was lovely and very professional and my results came back low risk. As the NIPT is very accurate I don't think we'll go for the AVC, just carry on as is, though I may give ARC a call and see what options there are. I'm taking aspirin and am booked in for an extra placental scan to make sure all is working as it should.

It's a big relief - we would have continued with the pregnancy had it been Down Syndrome, but it's great to hear it's low risk for Edward's and Patau's. Hopefully it will be smooth sailing from here onwards!

OP posts:

Jupiteer · 18/08/2023 16:22

@NellDunnHadItRight so glad to hear your NIPT came back low risk 💜💜💜

vincettenoir · 18/08/2023 18:10

So pleased the test went well. All the best

maria2bela1 · 18/08/2023 20:50

I had a friend given 1 in 5 chance of Downs, she decided to continue with pregnancy and baby was born with no disabilities at all...

gogomoto · 18/08/2023 21:02

My main volunteer at work has ds, he lives independently with 2 similarly aged lads all have ds, they have carers who work with them as required, money is managed etc c but they have fun fulfilling lives. The bigger issue is whether there's heard problems for instance so i would personally request a feral heart check if ds tests are positive. Just my opinion though.

It's tough to get this news and even harder waiting for definitive tests. Take care op

Sfh0412 · 21/08/2023 17:34

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

NellDunnHadItRight · 21/08/2023 21:13

Thanks @gogomoto , I'll be sure to ask about the baby's heart at the next scan.

@Jupiteer and @vincettenoir thanks for your good wishes!

@Sfh0412 Sounds like you're in a similar situation to me due to maternal age and a low Papp-a hormone, which can signify one of the three major trisomies. You've only had a screening test, which means that you haven't learned anything definite, only the odds of having a child with DS. However, 1 in 53 is still only a roughly 1.8% chance of Down Syndrome. The initial screening (NT and bloods) according to a friend who works in healthcare, casts a fairly wide net in order to find as many true positives as possible.

The waiting is the worst, and the best advice I could give you would be the advice I received - put it as far from your mind as possible, carry on and be kind to yourself, whatever this involves. If you think it would help, then read up on Down Syndrome and what support and advice is available. I did this and it was a big help. Wishing you all the best.

OP posts:

Sfh0412 · 21/08/2023 21:32

Thank you for replying !
see this is what I don’t understand the midwife today said my PAP-a wasn’t low , but i can’t actually find what the levels should be within for 12 weeks pregnant .all that comes up on google is a different measurement.

I have a holiday next week so should be able to push to back of my mind hopefully and focus on step daughter and son!

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