Down syndrome first, pregnant with second

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Has anyone had a Down syndrome diagnosis in first pregnancy then went on to have a healthy baby in second?

and I guess same question, have you ever had it happen twice? one Down syndrome diagnosis in first then again in second?

Bump

do you know if your child has the inherited type or the random variation?

If the first child has Trisomy 21 due to non-disjunction and neither parent has a translocation, the recurrence risk is approximately 1% plus age-related risk.

If a parent is a carrier of a translocation, the risk can vary significantly, often between 5-15%. (The inherited one)

My friends eldest has down syndrome and then she had three younger children without down syndrome

Tysm for replying! Really reassuring. Get my NIPT results tomorrow!

Yeah apparently just totally random. Everyone says it’s super rare to happen twice but I just keep thinking it’s super rare to happen once so I have no reassurance with that. Find out tomorrow if second is high risk too. Thank you!

I think 1:100 you’ve got fairly good odds ☺️☺️

I knew someone whose first had Downs but the other two didn't.

I used to work in a SEN school many year ago (this in anecdotal) and many families who had a child with DS - it was their first in the younger parent category (but as I say this is only from my parents an observations over a number of years)

my friends mum, eldest two didn’t, third did, youngest two didn’t.

So did you your DH/Partner have karyotyping blood tests done, hence you are saying it was a random event? My 1st pregnancy had trisomy 13, and after blood tests, was also told it was random too and DH and I aren't carriers and it wasn't a translocation.

A friend had a son without DS, then a daughter with it. Friend was in her late 20's, very low risk and absolutely nothing said on any scans. Apparently they went back to the scans after her birth, and thought there had actually been some cardiac defects not picked up, which might have alerted them during the pregnancy. Friend then went onto have a 2nd son without DS.

Wishing you all the best with the NIPT tomorrow OP x

Just updating the thread that our second pregnancy is low risk on the NIPT for all 3 disorders. So relieved xxx

Thanks for the update OP. I'm sure that is a great relief x

Did you have to do the combined test first before being referred to a NIPT? I’m pregnant again, my first has Down’s syndrome, I was offered to bypass the combined test with my second and go directly to the NIPT, but that was back in the days when even through the NHS, you had to pay £300 or so for the NIPT so I don’t know if it’s changed since and they’re stricter with making everyone do the CT first??

I haven’t but I have known several families including a family of 5 and only the first affected.

I wasn’t offered combined screening this time. I fast tracked straight to NIPT at 10 weeks!

Yay! I’m crossing everything I’ll be offered the same and that the guidance for referral isn’t treated as fixed. I mean having a child with DS alone gives a 1 in 100 chance for some reason, so between that and being 42 I’m pretty much a given for a high chance result, so I hope they don’t insist I test that out by actually doing the combined test again 🤞🤞

My sil has 3 children. The eldest has Down syndrome. The other 2 children don’t. She was 27 when she had the first child.

And to answer your actual question, I think practically everyone I’ve known (including myself) have gone on to have children without DS in subsequent pregnancies. I think the only siblings I’ve heard of have been adopted. Hence my own concerns are not that I think I’m likely to have another child with that extra chromosome, but rather that I want to avoid getting a false positive with an unreliable test (even though it gave me a false low-chance with my first!)