High risk for Downs

[timtam78]

I've had a high risk factor for Down's at 1:24

The midwife told me it would have been 1:196 based on my age alone. (im37, 38 in November).

The nuchal measurement was in the normal range at 2.4 but the two hormones they test in the bloods, one was slightly high and the other slightly low.

At the mo, thinking of either just doing nothing or carrying on or paying for the harmony test (£345) but that's not 100% diagnostic but pretty much gives you a 99% idea.

But shocked and just wanna chat with people who've been through this really xx

 

[ab11]

we were border line at scans, didn't want any further testing.
our baby came 8 weeks early in June.
they did blood test when he was in hospital and yes he does have downs syndrome but if we would of found out during pregnancy what would that of done?
I know some people want to prepare there selves but we don't see him as having downs syndrome just our perfect little boy that we waited so long for xx

 

[Lil miss lee]

My Hosp "forgot" to give me the blood test for downs so we have gone threw this preg with not a single idea if our boy was high or low ....

 

[MelC2011]

We had a 1:25 chance of downs. We were lucky to be offered the Harmony test on NHS but had to travel to London for it.
Our risk factor then changed to 1:100000.

Personally we just wanted to be prepared and would have paid had we not have been offered th extra scan. The wait for the results was agonising though.

Our baby boy is now 12 weeks old and just perfect xx

 

[Maaaaaac]

My little sister has Downs Syndrome, my mum had no warning at all, there was no mention of risk factor or anything. She fell pregnant very quickly soon after and my mum then had the amniocentesis for that pregnancy. At the time, for her, it was the right decision for her as she was so overwhelmed. Would that be an option you would consider? Has it been offered? It does carry high risks but it is the only sure way to know. If it reassured you to know either way. My mum regrets it though, although the baby was fine, there were no ill effects she just always thinks about it. What difference would it have made to her as she wouldn't have changed it at all. My sister is now 14 and shes great! It was hard going at the start for my mum, yes but she wouldn't change anything for the world. I know she is not my child do obviously my experience as a sister is much different but i now work as a learning disability nurse and have worked with people woth disabilities for over ten years inspired by my sister. Either way knowing for sure is completely a personal opinion.

I was offered the amniocentesis as my baby has two 'soft' markers for Downs. I didnt get a nuchal translucency test as it is not offered but i decided not to go for the amnio. So we'll just see what happens. I love this baby already

 

[Pumpkin9]

I've had the harmony test, if you want to know about it just let me know

 

[timtam78]

Thank you ladies for your replies

Abi11 I'm a natural worrier and I think a 99% idea either way will help me. I think for me the not knowing is sometimes the hardest thing.

Lil mis lee - wow that is shocking!! How far along are you?

Melc2011 - oh glad your results came out fine in the end. I recognise your name and I know it's taken you a long while to get your baby so very happy for you x

Maaaaaac, Thanks for sharing your experience with your sister. I know Down's people can be beautiful people and can lead fairly normal lives so we definitely will not terminate either way. I don't want the amnio because of the MC risk, although the Harmony test is not 100% diagnostic 99% I think is enough for me and I just want a clearer idea so I can either relax a bit more or prepare.

Pumpkin I know the harmony test is just a blood test where they can get the dna information that way but other than that I don't know much else. I think I'm going to call up in the morning and book it. If there's anything you can share that you think would be useful please do xx

 

[Pumpkin9]

So it's not just a blood test, or at least in my case it wasn't. The consultant I saw rescanned me and checked for fetal abnormalities, very much like a 20w scan on the nhs. He then re-measured the nuchal measurement and then took blood. The test takes about 2 weeks to come back and it's like a risk measurement - from that they then recommend whether an amnio might be necessary or not.

Hope that is abit useful. I certainly found the scan much more useful and more reassuring, I also got some 4d scan images (not that I really wanted them but it was nice). I had a half an hour appointment and it was very relaxing on the whole. Wish I could afford to go private with everything

 

[timtam78]

oh wow yours sounds different to mine then! I just went and had mine tonight and it was just a blood test. My local hospital did it, the lady who did my other scan did it actually and she was lovely. Answered any questions/concerns I had. So mine was just the blood test. It's now sent off to the Harmony lab in London and I should get my result in a week unless they have any delays.

She told me it was actually 99.8 or 99.9% accurate so it's a pretty certain answer.

I should have asked but I'm pretty sure they will tell me an either yes or no answer from how she was talking about it.

When did you have yours and was it at a private hospital?

 

[scn]

Sorry you're having this worry.
I had the harmony test with this pregnancy. I had it done at a private clinic and it involved a scan and blood test. I had it done on a Tuesday and got the results the following Monday.
It isn't a yes or no answer unfortunately because it's not a diagnostic test. It gives you a risk factor but is 99% accurate risk factor. Based on my age and history (previous downs pregnancy that I miscarried) my risk factor (before testing) was 1:80 chance so I didn't have the NHS screening as I just knew it would come back as high risk. My result from the harmony test was <1:10000 and my baby is perfect.
I hope everything comes back ok for you and your little one xx

 

[Pumpkin9]

oh wow yours sounds different to mine then! I just went and had mine tonight and it was just a blood test. My local hospital did it, the lady who did my other scan did it actually and she was lovely. Answered any questions/concerns I had. So mine was just the blood test. It's now sent off to the Harmony lab in London and I should get my result in a week unless they have any delays.

She told me it was actually 99.8 or 99.9% accurate so it's a pretty certain answer.

I should have asked but I'm pretty sure they will tell me an either yes or no answer from how she was talking about it.

When did you have yours and was it at a private hospital?

Yes it was a private clinic at the Rosie hospital in Cambridge. My blood was sent to California for the results, so not sure if it was just the case st the time and there was no london site or what. It did cost quite abit by was well worth it and we wanted to understand what was the likelihood better and also we wanted to know the gender which the harmony can effectively tell you.

 

[Pumpkin9]

Incidentally my result also came back at 1:10000 , my bus screening had come back at 1:620 - which is low risk I know but with my son it was 1:10000. I was 32 at the time of the test and the nuchal measurement was at the very high end of normal. My little girl is perfect

Hope the results come back favourable for you xx

 

[timtam78]

Thank you Pumpkin! I had my son Max at the Rosie in Cambridge I'm at Hinchinbrooke now as I live in St Neots, so they did my Harmony. Glad your little girl is perfect and all worked out well for you My risk with Max was about 1:10000 too so I was shocked to get 1:24 this time X

oh and yeah the lady who did my test tonight said they only used to do it in America X

 

[timtam78]

Sorry you're having this worry.
I had the harmony test with this pregnancy. I had it done at a private clinic and it involved a scan and blood test. I had it done on a Tuesday and got the results the following Monday.
It isn't a yes or no answer unfortunately because it's not a diagnostic test. It gives you a risk factor but is 99% accurate risk factor. Based on my age and history (previous downs pregnancy that I miscarried) my risk factor (before testing) was 1:80 chance so I didn't have the NHS screening as I just knew it would come back as high risk. My result from the harmony test was <1:10000 and my baby is perfect.
I hope everything comes back ok for you and your little one xx

Oh did you, thanks for sharing your experience. Glad all worked out well for you too

From what I can tell from the harmony everyone either seems to get a 1:10000 or a near certainty that their baby has Down's. I've not read of anyone getting a risk factor of anything other than 1:10000 so far. x

 

[timtam78]

I assume it's the 0.01% inaccuracy which makes it non diagnostic. Do you think they have to call it a risk factor as only the amnio can give 100% answer? The lady who did my test tonight said they've never had one that was wrong X

 

[ab11]

My baby is perfect too we waited 7 long years for him, just because he as Down syndrome doesn't define him as a person.
We don't label him, he's on 15 weeks old and doing so well already.
If you do find out your baby as Down syndrome, try not to worry because he/ she will also be as perfect as any other baby xx

 

[Pumpkin9]

I assume it's the 0.01% inaccuracy which makes it non diagnostic. Do you think they have to call it a risk factor as only the amnio can give 100% answer? The lady who did my test tonight said they've never had one that was wrong X

I'd imagine that's the case - I suppose because it's from your blood and not direct from the baby so a very small margin of error?!?

 

[Pumpkin9]

My baby is perfect too we waited 7 long years for him, just because he as Down syndrome doesn't define him as a person.
We don't label him, he's on 15 weeks old and doing so well already.
If you do find out your baby as Down syndrome, try not to worry because he/ she will also be as perfect as any other baby xx

No I agree with you, but what I would say is that regardless of your opinion on this subject (I'm not getting into the in's and outs of it for obvious reasons) there is more to consider with a downs or any other trisomy diagnosis, purely because they will need extra support throughout life. It was something that we wanted to consider before our daughter was born as we knew that it would have an effect on our son not just us.

 

[ab11]

fair enough but the way you worded it saying your baby is perfect because she doesn't have downs syndrome upset me.
I don't think you thought how to put it xx

 

[Pumpkin9]

My baby is perfect, simple as, I'm not interested in if it offended you or not because I wasn't talking about your baby compared to mine.