Pregnant - evidence of Downs - should I have amnio?

[Ssandy52]

Hi just wondering if anyone who has a child with Down’s Syndrome had the amnio? I have had a positive NIPT/harmony. I’m worried about the risks but wonder if it would help to know for definite? Will any health issues be picked up on ultrasound? I presumed so but midwife dismissive.

[ghislaine]

I think that the Harmony tests and the like have an almost negligible false positive rate given that they test foetal dna so I'm not sure whether an amnio would give you any more certainty. That said amnios are also very low risk. I remember researching this at the time and I think the risk percentages are drawn from an American study some decades ago.

Some health (structural) issues might be picked up on an ultrasound eg heart, stomach, and bowel issues which might be helpful to you.

[morningcuppatea]

Hi @Ssandy52 I've just seen your thread. I was given a high chance of Down's syndrome and Edwards/patau at my 12 week screening, I decided not to have any other tests. I had my 20 week scan with a consultant which showed some markers for Down's syndrome and that baby has a heart condition which is also very common with downs.

I had no intention of having an amnio but we were referred to a heart specialist for a more detailed scan and whilst we were there a fetal medicine specialist asked to scan me too, she picked up a possible marker of Edwards or patau so we opted for an amnio.

I've just got the results back and they have confirmed our baby has Downs Syndrome so the consultant at my 20 week scan was spot on.

I hope that helps if you've got any other questions please ask, it's such a rollercoaster and I feel like it's only just beginning.

[Ssandy52]

@morningcuppatea how are you feeling? So glad no edwards/Pateau. My scan is on 4th Jan with a consultant so will know more then. We decided against the amnio in the end. Do they know anymore about the heart condition at this stage?

[morningcuppatea]

I'm feeling ok, it's what we expected when we were referred to the specialist and if they hadn't mentioned a possibility of edwards/patau i wouldn't have had an amnio.

Have you spoken to a midwife from the screening team? It seems a long time for you to wait for a scan, will that be at 20 weeks? I had a scan at 16 weeks too and the consultant mentioned a hole in the babies heart but wanted to wait til 20 weeks to be certain. It's really amazing what they can pick up on the scans and how much detail they look into everything.

My baby has a complete atrioventricular septal defect and will need surgery to repair it but will hopefully then be ok.

[Ssandy52]

@morningcuppatea ah that’s interesting. The midwife seemed to say we should avoid having too many scans? Maybe I should ask for one next week? I’m 15 weeks today. Are you allowed to give birth in your local hospital or do you need to go further afield due to the baby’s heart defect?

[morningcuppatea]

I guess maybe they have different criteria depending on your screening results, mine came back with low Papp-A so I think the plan was always to have scans every 4 weeks because of that rather than the risk of Down's syndrome.

Did you have the nhs screening at 12 weeks or just the NipT?

Hopefully I will be able to have the baby at our local hospital but it will depend a lot on scans nearer the time.

[Ssandy52]

Yes had the screening one in 5 due to high hcgb and age and then the NIPT positive. Midwife says 16 weeks will be too early so I suppose we will wait. X

[morningcuppatea]

Hi @Ssandy52 just thinking of you and hoping you're getting on ok? 4th Jan still seems a long way off, did you have anymore thoughts on having the amnio test?

[Ssandy52]

Hey! I had a 16 week scan and all ok so far thank you! X

[morningcuppatea]

That's amazing, fingers crossed for good news at 20 weeks too.

[Ssandy52]

@morningcuppatea how are you getting on hon?

[morningcuppatea]

@Ssandy52 happy new year, I'm ok thanks, haven't got another scan booked until 20th Jan which seems a long way off, but baby is moving lots and I think it'll all go crazy with scans and appointments after that so I'm trying to enjoy a break from hospitals for now!

How are you getting on?

[Ssandy52]

Ah fabulous! Enjoy the break. 20 week scan went really well today! 😃 xxx

[morningcuppatea]

That's great news, when is your next scan?

This is a bit outing but never mind, I've just recently joined a Facebook group DSUK PADS Great Expectations for pregnant mums and I'm finding it really useful to read the posts on there from other mums in the same position.