High risk for Down syndrome - advice and positive stor... - NCT

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High risk for Down syndrome - advice and positive stories needed please!

We had our 12 week scan this week, all was perfect measuring 2 days ahead. We were told no cause for concern, the neck measurement was well within range and not to worry. I’ve just had a call to say we are high risk for Down syndrome with a 1 in 20 chance. We are going to go for further non invasive testing. Our embryo was a grade C multi nucleated embryo and I’m really upset and worried. Any positive stories out there?

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Have you ever heard of Sally Phillips? She has made a documentary and has done a few interviews on Downs, I would highly recommend the documentary.

It isn't some horrible disease, nor a death sentence; all I can recommend is educating yourself as much as possible. I know it's not the same, but Autism runs in my family (I have Asperger Syndrome) and some people will call Autism cancer, or say we are vegetables (we are not!). You'll hear all these awful possibilities, the worst case scenarios, but most of us non neurotypicals live ordinary or extraordinary lives. Just don't lose hope.

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Thank you for your reply. I’m not against having a baby with Down syndrome, just more concerned with the co-morbities ie. heart defects that could severely impact baby’s quality of life and impact our existing family. Having had IVF and severe sickness it just feels like one hurdle after another. I have cared for children at both ends of the Down syndrome spectrum. I will watch the link thank you x

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You’re so right - babies with Down’s syndrome can have a lot of health issues that impact their quality of life, and some are so healthy and get to excel. Let us know how you get on xxx

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Yes l have a good story. Firstly want to say, the early test is NOT diagnostic, it's an indicator for more specific testing. So breathe. I've done alot if research into this as my friend had the same situation. She just went through a heart wrenching 2week wait whilst her 2nd test results came through. Happily All perfectly normal. Wishing you all the best.

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Thank you for your reply. I’ve done some googling and my blood results are indicative of Down syndrome. We are going for a non invasive blood test tomorrow x

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Good luck xxxx

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I think the nhs results are based on age and various other factors. I had a high chance because of my age so I had the Harmony scan and blood test which showed a very low risk.xx

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I just wanted to say I went through the same thing. Very similar risk to you but measurements had been fine. I had the harmony test and it was a horrible week of not knowing. The results came back low risk and we got to find out we were having a girl. Now she is a perfectly healthy 1 year old.

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Thank you we had the IONA test today, we will know by next week x

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Hope you don’t have to wait too long for the private non-invasive blood test results. I would recommend getting in touch with ARC, they’re a really great charity organisation xx arc-uk.org

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Thank you we had the IONA test today we will know next week x

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My friend had a high risk 1 in 17 chance and her baby wasn’t born with it but my other friend she was told she was low risk 1 in 1250 and her little boy was born with Down syndrome and kidney issues. So it can happen no matter what the risk xx

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Bear in mind that it is said that everyone has a 5% chance of miscarriage after their 12 week scan. I know that sounds negative but what I mean is that it’s how we perceive a statistic. Because the percentage goes down after 12 weeks we see it to be low, but because 1 in 20 is higher compared to what it can be for Down’s syndrome we see it as super high, but that’s still a 95% chance your baby hasn’t got Down’s syndrome. You could have a 1 in 2000 chance and still be that one, or one in 2 and not be. Ultimately whatever comes back it’s your decision but like someone else said could also be good to watch videos of parents of children with Downs Syndrome xx

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I was 39 years old when I conceived with IVF. My baby NT scan was high border line 3.40mm. You probably know 3.50mm is considered normal. I had IONA non-invasive test same as Harmony and the results came as low risk. While waiting for the results I couldn’t stop crying so I went to see a consultant privately and he suggested for me to have Amniocentesis knowing the risk of miscarriage. Some countries practice the idea of Amniocentesis due to my age group. I would have had it done if it wasn’t for a lovely nurse who told me otherwise so the moral of this story is please don’t lose hope. Not sure if you considered it but If you are worried do what you think is right. Wishing you all the best. My girl is 5 months now and doesn’t have Down Syndrome.

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I had a very similar story at my 12 week scan - i had to go and see a specialist and at the time (2 years ago ) - it was only the invasive testing available - i mulled it over for weeks but had to decline it as the risk of miscarriage was too high . As soon as i declined it - i just done alot of research and the hospital was amazing ( i had a heart scan to see if baby had a heart defect ) that came back fine . My daughter is almost 2 years old - Only you will know what is right for you and your baby - good luck for you all xxxxx

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