Tests for down syndrome

[concerned1]

Hi Nikki

I am in the same position as you.
My NT measurement came in at 3.8mm and the Dr said anything over 3mm they consider high risk. I'm under 30yo so I was very concerned and upset. Really wasn't prepared for it.
She had said my bloods were really good but the NT measurement took my risk factor from 1 in 700+ down to 1 in 119.
So i had the CVS test the following day and just waiting for the fast track results which I'll hopefully get in the next few days.
I've spoken to a friend who went through CVS and was given a 1 in 7 chance with the NT ultrasound only to have everything come back fine from the CVS and have a healthy baby. Same thing happened to another 2 of her friends. I am shocked at how little they explained this stuff when they gave us the results.
The CVS fastone test should give a 98% accurate result with the longer test (10-14 days) giving 99.9% accuracy. Chances are all is fine but what a nightmare.

Right there with you.

[Mumof2Girls]

Hi Nikki,

I had to have an amnio done as well, my risk came back as 1 in 137 of DS. The nuchal was 1.8 but it was my bloodwork that pushed me into the high risk category. I had the procedure done in a public hospital and it was all free, even the Fish results. My results came back all clear and our baby looks to fine It just seems I have wonky blood chemistry.

I've known people to have a higher nuchal fold and their results have been fine, fingers crossed this is also the case for you

TC,

Nic.

[Pandora]

From memory the false postive rate of the NT testing/indicators is high, I think is was something like 19 our of 20 who have the invasive testing (amnio or CVS) done get a negative result.

Will you have invasive testing done if your results come back with an elevated risk? If so, and if you are still able to have CVS its worth comparing the two, I think CVS can give results for other things than DS as well.

Also, WRT miscarraige likliehood, the actual medical professional performing the procudure will have their own ratio/stats for this so you can ask what theirs is.

[joss.00]

Hi all, I am new to this site but I was hoping I could read or speak to someone in the same position as myself. I too got a high risk result back from my Nuchal scan and it was my bloods that pushed us into the High Risk category. The fluid around the babies neck was measured at 1.9mm which I researched the internet and found that, that is quite normal. I at first opted against having an amnio done as I thought it would be ok, but it seems every doctor/person I speak to asks if I am going to have any more invasive tests done. I haven't slept well for the last 2 nights as I keep thinking 'what if'. I ended getting my referral and booking in for my amnio today which is scheduled for next Friday. I am so nervous but I need to know if my baby is going to be ok, for my own piece of mind. I don't think I could go another 5.5months wonderign if the baby will be ok. I was very upset at the fact that the sonographers give you a ratio number instead of a percentage. For example, I am a high risk with 1:246 which is .04% chance of having a baby with down Syndrome or 99.6% chance of having a healthy baby. When you look at it like that it doesn't seem so bad, its the ratio numbers that make it look bad and scary! Anyway, that was just my little opinion.

[Leemar]

Hi I was 1:35 and it was my bloods that were bad too my scan was fine. I had the amino and went on to have a healthy baby with no problems. I too was very upset when told I was high risk for downs and never slept and cried all the time. That was when I found Belly Belly and I have never looked back since.

[joss.00]

Thanks Leemar for your reply. What was the amnio like? Is it as scary as it is described? How long did it take for the results and how long after it is done do you know if you are going to miscarry or not? I am really scared!

[cruemum]

When I was pregnant with my first son this ***** of a midwife told me that he had downs syndrome and that I should abort him!!
After I reported her I met with both a doctor and a councillor who explained to me that doing an amnio could result in a miscarriage.
After much soul searching and consultation I decided that if he had it I would deal with it.
He was born a perfectly healthy boy with NO traits of downs.
Eventhough 2 tests showed he did, so this goes to show that tests aren't always correct.

Hope this helps in your decision.

[Leemar]

Hi Joss,

When they did my amino I got one test back in a few day and then the other was a about a week or 2 later. When they do an amino they dont just test for downs they check all chromosones. It didnt hurt just felt a little uncomfortable. I too was very scared just like you. After I got back all good test results they told me that because my bloods were bad I might have a small baby. Well She was 9pd 7oz born 2 weeks early by elective C-Section and perfectly healthy in everyway. I am glad I did the test as I personaly word rather had known what to expect so I could have prepaired myslelf with information. In regards to miscaraige I can not remember what the odds where or even how long it took but they will advise of all this information or you can look it up on the net. I hope all goes well and wish you all the best. :hugs:

[AnyDream]

Hi Nikki and Joss, I'm another who returned a high results, 'normal' measurement but the blood test came back high & I was 35 which puts you into a higher risk bracket as well. My DH was about to go o/seas for 4 months and I didn't think I could cope with wondering 'what if' for the whole pregnancy without his support. Plus if we were going to have a Downs baby I wanted time to research and prepare myself. So we had a CVS, it was done around week 13, just days before DH left the country. However the procedure wasn't done until we had seen a genetic counsellor and discussed the pros and cons and what it all meant, so I was armed with information & support from her. I found the CVS procedure quite painful (and therefore scary), which they told me is very unusual, because my uterus was in a weird & unusual position, plus the particular OB who did it had zero bedside manner! However the first results came through very quickly and all was well. I would make the same decisions all over again because it's important to me to have the information instead of wondering.

[satya]

joss - I didn't feel anything with my amnio - just felt a kind of "whoosh" as the doc thrust his arm down towards my tummy but didn't feel a thing. The only other woman I know IRL who has had one felt nothing too - and from what I've read most women don't get pain from it. I just got back from a scan tonight and I've been told everything looks absolutely perfect and I'm now measuring 5 days ahead even though I'd been warned by my OB to expect slow growth due to the abnormal 12 week scan. Just remember that most people who have a high risk have a completely normal baby.

[Lee]

Hi - did you find out any more since you first posted? I hope everything turns out fine, and in nearly all cases it does. My NT meausrement with my last pregnancy was 2.3mm, but the bloodwork pushed me very high risk. Had CVS and found out my baby did have DS. I'm now about to have my NT scan for this pregnancy, and am very anxious about it. Sometimes I wish this test just wasn't around! Good luck! Lee x

[joss.00]

Hey Lee......I have found so much support after posting my query and I have found out so much more information about it also. I am still nervous and a little scared which I would say is normal but I do understand that this procedure is doen often and I am going to a really good doctor so I am at ease with that. All i can do is pray and hope for the best. Good luck with your NT scan soon, let me know how you go! xx

[Lulu]

I imagine this is your first and I can understand you being a little worried, the statistics are on your side if that helps any.

With my 2nd and 3 rd babies I didn't bother with these tests. TBH, I didn't feel it would change anything for me - if the child was born with Downs then so be it. It wasn't like I could or would do anything about it, and I didn't have to worry or stress. JMHO.