High Down’s risk 1 in 5

[HazyDays81]

Following my 12 week scan and blood test I have had a call to say my baby is at very high risk of Down’s. I expected it to be higher risk due to my age (just turned 41) but was shocked with the 1 in 5 chance.

I’ve been offered the NHS NIPT test which is 90% accurate for Down’s screening or a CVS which will confirm either way.

If anyone has any advice, experience or just reassurance with this I would be grateful to hear from you. Feeling quite emotional about it all.

Have you considered you have a 4 in 5 (80%) chance that the baby doesn't have Downs? Which strikes me as rather good.
You can present the same statistics in so many ways to make a point.

Thank you @MrsOwainGlyndŵr - my husband said this too. Trying to stay positive. The nuchal measurement was normal at my scan at 2.3 - I was told over 3.5 is a higher risk.

@HazyDays81 you age makes the chance higher even with no other factors so for example if you had exactly the same scan at 36 it would be 1 in 9 chance and if you had it at 43 1in 3 chance with no other indicators.
The NIPT test can say 99.5% sure that your baby doesn't have Doen syndrome and 93% that it does.

Personally if it was me I'd take the NIPT if it comes back the baby 99.5% doesn't have downs I'd leave the amnio as it can cause miscarriage.

If it come back 93% that they do- then id want to do a few things

1. Have regular scans to see if the baby will have any other medical needs I.e Joel I'm the heart.

1. Once I knew this information I'd decide if I could continue with the pregnancy- everyone's situation is different and it's a personal choice.

If I decided I could then I'd not have the amnio- if my circumstances meant I could not continue if the baby had Down syndrome then I would take the amnio as the 7% chance that they may not have it would always worry me.

I hope this helps you. X

Thank you @PMAmostofthetime that is helpful advice.

I spoke to the midwife at the hospital this afternoon and have booked to have the NIPT tomorrow. Fingers crossed the results will reassure me as from what I have looked up it is much more accurate than the nuchal scan and blood test. The midwife didn’t mention what my hormone levels in my blood were but like you say I’m sure it’s mostly down to my age. It was just an unexpected shock to hear the high risk.

I think I’ll wait for the NIPT result and go from there. My gut feeling is I would want to continue with the pregnancy regardless of the result but I would still want to know either way.

Thanks again for taking the time to reply x

I suggest you only opt for invasive testing (amnio) if you would terminate a pregnancy that confirmed Down syndrome OR if detailed scans suggested a problem with baby's development and you wanted more clarity about what the reason for this was.

I would also try and talk to parents of children with Downs. It's not necessarily as awful as you might think.

@HazyDays81 good luck tomorrow and I hope the results don't take too long.

The NIPT test will help you prepare for the future with your little one :)

Congratulations on your pregnancy x

Thank you @PMAmostofthetime

@lisers yes I’m hoping the NIPT will reassure me without the need for invasive testing.

I had the blood test first thing and although they say a week for the results she thought they might have them by Wednesday. It will either be a low or high risk but no actual figures but she reassured me it is a much more accurate screening test. So will wait and see and hope for the best.

@HazyDays81 have you had any update? X

Hi @PMAmostofthetime thanks for your message. Unfortunately the NIPT came back as ‘higher chance’. I was so hoping it would reassure me. It has been an emotional time not really knowing what to do. I have an amnio booked for Monday so we know for sure & can make a decision. Clinging to the very small chance the baby may still be ok x

I'm sorry it wasn't the news you hoped. Don't allow anyone to pressure you into any decision. Take time, talk to each other and do whatever is best for your family. 🌺

@HazyDays81 what a difficult time for you. Hope the Amnio results don't take too long for you x

@HazyDays81 no advice but wishing you strength to get through this worrying time X

Hi op I was the same with the 1in5 chance but it was for any chromosome abnormalities so I opted immediately for the amnio as they told me alot of these are not compatible with life. I had to wait 14 days for results. It was such a dark time. I got the all clear.
i wish you luck op

I’m so sorry to hear that your NIPT did not give you the reassurance you wanted. I am currently experiences the wait of my NIPT since finding out we have a higher chance of downs. It is my second baby and I’m only 31 so I am devastated. If I comes back high then I am thinking I will have an amnio but I am terrified of the thought. I’m hoping it wasn’t too bad for you.

I had the amnio test back in 2004. It was fine and you were talked through the whole process and could see what was happening.

The wait for the results was excruciating as I knew I would terminate if positive. It wasn't.

Why I remember being told was that the statistic (say 1 in 5) was based on women who had the same test at the exact same time as you. Oddly, that made it seem more random and not as bad as I thought. Think I was about 50%.

It's tough and throws up questions we'd all probably rather not face. I'd preferred to know.

How are things op? X

I agree that the odds are still in your favour for a healthy child. The NIPT will confirm it along with a 16 week scan.

I was told I had a 1 in 111 chance of trisomy 3 and they said I was very high risk and should consider abortion.

I laughed in their faces and said "that is less than 1% chance"

Healthy baby due in a few weeks.

You have a 4 in 5 chance of a healthy baby and I'd take those odds!