High risk for Down syndrome at 12 week scan has anyone else been in this situation?

Hi all

So I'm trying my best to stay calm as I'm high risk after the scan and bloods but the probability of NOT is still 98.5% from an NHS test. Has anyone else been in this situation and can advise me what they did? I'm 13+ 3 and been offered CVS tomorrow or amniocentesis in a few weeks or to pay for the NIPD test privately.

13 Replies

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  • Gosh I've not been in your situation but can totally symphatise. I'm having the Harmony test (type of NIPT?) next week if both of my twins are ok. It's a simple blood test at £315 to determine the risk for Downs, Edwards and Patau Syndromes. It detects over 99% of Down syndromes compared to traditional NHS testing and has a much lower false positive rate.. something to consider before deciding on invasive testing? I wish you all the best and hope everything turns out fine!!! Hugs xoxo

  • Hi Nesfin

    yes that's the test I want too I'm hoping to get in to a clinic Saturday morning. I've seen it priced way more than that £500/£550. Are you near london? Hoping the test was a false positive too I've read a lot of posts on netmums that have given me some hope in my results. That's for your response and good luck with you two babies xx

  • I think it's worth it before invasive testing, but obviously the cost is high. My clinic is in Central London, and they will charge a scan too at £110 to see first if both of my beanies are ok; in the case of a vanishing twin they can't do the test because the DNA of the dying one might interfere with the results, but I don't know whether the scan is necessary in single pregnancies or in your case. PM me if you want the name of the clinic and fingers and toes crossed everything will turn out ok for you!! xoxo

  • Hi MrsJJ

    Not a fun time. We had a high risk result from the NHS combined test (scan + bloods) so we were then offered the NIPT test as our hospital is a regional testing centre for it - that came back as 95% probability that our baby would have DS. We were a 1 in 53 chance based on the combined test. We then opted to have CVS as we both felt we had to know and our baby girl had a confirmed diagnosis of DS 4 weeks ago. It's obviously not something any parent to be wants to hear and we are still going through a lot of soul searching. However we are absolutely keeping our hard fought for baby and we will find a way to deal with whatever issues she has.

    I can't really advise you what to do but I can say that even after the NIPT test which is still a screening test, we felt the need for the actual diagnostic test of CVS and I preferred CVS over amnio - it was sooner and I felt in my head that taking placenta felt less terrifying than taking amnio fluid.

    Good luck with your decisions, feel free to message me, and should your diagnosis be confirmed (sounds very unlikely from what you've said so far) I can offer directions to lots of support that I have already found online and in my local community. It's not a special club I wanted to join but I am discovering it it is an incredibly strong and loving one and the support is absolutely there. Also, every single mum I've interacted with of a child with DS so far has told me that the abject terror and fear is common during pregnancy but that once the baby arrives, actually it's just a baby that needs love like any other and the future can still be bright

    Xx

  • Sipidania I must have missed your posts about what u have been going thru!! Sorry to hear this but lovely to hear your positive take on it all!u will love ur baby no matter what,more so for how long u fought to get here xxxx

  • Thanks 72Cloud9. I won't pretend it's been an easy few weeks - in fact fair to say it's the worst ever - but we are coming to terms with it slowly. I cry on less days a week than I was doing, and gradually we are sharing the news with friends and so far we've had nothing but overwhelming support. Our society creates a lot of fear around Down Syndrome which is hard to unwire in your own brain.... but as one mum said to me yesterday in a DS pregnancy support group I've found, when her baby arrived she didn't know him, but the moment he was put on her chest, he knew her and loved her and she loved him right back. I'm my daughters home and the only person she knows right now and she deserves parents that love her and put her at the centre of our world as much as any other child does. So that's what we are going to try and do, to the best of our ability... day by day, step by step... xx

  • Sounds like u will be the best parents she could have xxx

  • I refused the test at my baby scan then midwife asked me twice and I told them I love my baby no matter what so please don't ask me to have the rest again they respected my decision xxx

  • Ah bless u,such a worrying time.hope u manage to get the right testing sorted & all is well xxx

  • Hello, I've not had a high risk for Downs but based on other issues highlighted at our 12 week scan we had the harmony test. Shop around price wise. We were originally quoted £600 but paid £450 in the end. I really didn't want amniocentesis because the risk of miscarriage was just too high for me.

    I know it's a frightening time but a friend of mine has a child with Downs and he's an absolute delight!

    Wishing you the very best of luck x

  • Thanks all for taking the time to respond. I'm booked for the blood test on Sunday and taking each day as it comes. Maybe the next 7-10 days won't be the best nights of sleep I've ever had but my husband and I are united in our next steps. Lots of love to you all xx

  • Hello Mrsjj!

    I want to wish you nothing but good things on the road to motherhood, thinking of you. I can't imagine the worrying es going in in your mind. Whatever it is it will be but I wish with all my heart that it is a positive outcome. Huge hug 🤗 sorry I can't advise 😘🦄💓⭐️🙏🏼🔮🙏🏼🔮🙏🏼🔮🙏🏼🔮🙏🏼🔮🙏🏼🔮🙏🏼🔮🙏🏼🔮🙏🏼🔮🙏🏼✨✨✨✨✨✨✨

  • Hi Mrsjj,

    I can't begin to imagine how you are feeling at the moment but if you have instagram please take a look at the following accounts -

    Lilcocobea, Catfishwithketchup and Macymakesmyday

    They are families that have children with Down syndrome and they are so positive and answer peoples questions when they are worried and I am sure they would speak to you if you have any concerns without judgement.

    following these accounts have given me a different outlook, so I hope taking a look at them might help in some way!

    xx

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