Tests for down syndrome

Hi,
Im new to babybelly and just really wanted to get something off of my chest of possibly talk to someone who knows what i am going through right now. In my first normal routine ultrasound they found an abnormality the nuchal translucency measurement was high (fluid in the neck i think!!) which points to down syndrome now i have to have other tests to determine the chances mainly. The measurement was 3.3 I dont know how much too high that is or anything as my dr herself didnt know anything about it. If anyone can please help me or just give me someone to talk to about it id be forever grateful.
Thanks :cry:

Firstly, sooo many people get a 'high' reading through this test and all turns out fine.
I'm pretty sure a 'normal' reading is about 1.5... with anything up to 3 still considered 'normal'. I don't know much about the other tests etc. but just wanted to let you know that all is most likely fine.

I had my NT scan a few weeks ago, and the radiographer took the measurements but said its more accurate with the blood test results as well, as a lot of people have a high nuchal fold measurement and completely normal blood results (or vice versa).

Measurements can be thrown off by the dates as well, if the bub is actually older than you think, which can happen if you're not 100% sure when you ovulated/conceived.

Oh, and up to 3.5mm is considered normal, and anything beyond is considered possibly high risk, depending on blood tests. I assume you're having or have had the blood tests? I hope everything comes back clear for you :hugs: We are here for you to chat and vent whenever you need... many many woman have had disappointing nuchal fold measurements and can help you through some of the emotions you are going through.

Hi, did you have a blood test aswell? my results for combined blood test and NT reading was 1:12 for DS, i had a CVS and we found out we were having a healthy girl.

Its so hard not too worry, but until you have more tests try and remain positive.

All the best

Hi Nikkie

I'm sorry you're going through a worrying time right now. It's a while since I was in this situation so I hope someone will come in and correct me if I'm wrong. By the sounds of things, you're about 12 weeks pregnant and that was the ultrasound you just had?

I can't remember what the norms are for the nuchal translucency measurement so can't comment on that. But I think the other tests will be a blood test and they will also factor in your age. So with these three 'results' they will work out the chance of your baby having Down Syndrome.

These tests are NOT definitive - they can only give you a risk factor. Only an amniocentesis (where they put a needle in your tummy and draw out some amniotic fluid) can tell you for sure.

This can't be done until about week 16 and it does carry about a 1 in 250 risk of miscarriage.

Most hospitals have genetics counsellors so if you feel like you're a bit confused (I know I did because people didn't explain it very well) then it would be worth having a chat with them.

Try not to worry too much until you have some results from the other tests - the odds are definitely in your favour to having a happy and healthy pregnancy.

Yes I had blood tests done yesterday and getting the u/s done on tuesday (12weeks 3 days by then) then the anxious wait to the results but I think the results only come back with a percentage dont they not a definite yes or no.

P.S thanks to everyone thats replied so far!

Yes, only a percentage (usually they say 1 in 'x'). And then if it shows that you may be in the high risk category, you have an option to get diagnostic tests done to give you a definate answer.

Good luck with the NT scan on tuesday :hugs I know its hard, but try not to stress :hugs:

Hi Nikkie,

They will calculate the potential for any downs syndrome based upon your age, the nuchal measurement and the blood results.

You may find (sorry I'm not sure of your age) that your blood tests will lower the chances substantially.

Once the results come in, the dr should advise you if they reccomend you have further testing.

Try not to worry too much,your results would be back to the dr pretty quickly after the scan. Your dr can also ring through for them if need to help put your mind at ease.

HTH, take care

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Only an amniocentesis (where they put a needle in your tummy and draw out some amniotic fluid) can tell you for sure.

This can't be done until about week 16 and it does carry about a 1 in 250 risk of miscarriage.

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You can also have a CVS. this is done generally between 11 and 12 weeks of pregnancy, although some testing centers will do it as late as 13 weeks. (For an amnio, you'll have to wait until you're at least 16 weeks pregnant.)

i had a CVS, it gave me my results earlier.


all thes best

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They will calculate the potential for any downs syndrome based upon your age, the nuchal measurement and the blood results.

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Oh my! is that how they do it?? No wonder they stuff up! That's very scary...

Cas

I had a NT measurement of 4.2, normal blood tests but at the age of 41 that gave me a DS risk of 1/37. I had an amnio done at 16 weeks and all my results showed no abnormality found. I was told a 4.2 measurement was considered a "little high" but the OB could have been trying to soften the blow.

Amnio has half the miscarriage risk of CVS therefore I went for that and I found that it was completely painless, didn't even get any cramping afterwards. It's not a bad experience at all so please don't be scared of it.

Do be prepared for it being expensive though. Mine cost about $50 shy of $1000 all up. Around $200 for the scan and the procedure (paid to the doctor) then $550 for the karyotyping (results available in two weeks) and $200 for the FISH results. I'd recommend getting the FISH results as it does put your mind at rest and waiting 24 hours is a killer, waiting two weeks would be far too stressful. You can't claim the FISH on medicare but you can claim the rest - think I'll be out of pocket around $500 but it's well worth the peace of mind.

I've now been told because of the abnormal 12 week scan I will also have to have an extra scan at 32 weeks because sometimes a baby who has had a higher NT measurement can end up with slow growth so don't be shocked if you get told that later on.

If they give you a 1/100 chance of downs it means 1 woman out of 100 with the same result as you will have a downs baby, but it can't tell you which woman will. That of course means 99 of those women will have a "normal" baby. If you get anything over 1/300 they will recommend either an amnio or a CVS.

Try not to stress, it may be nothing.

My 12 week scan didn't show any problem but my 20 week scan showed an increased NT fold. So that was like the worst birthday of my life.
So my risk went from 1/1100 at 12 weeks to 1/104. Because we were so far along we were squeezed in within five days for the amnio and got the fish results two days later. Then had a phone call two weeks later for full results. Luckily everything was fine.
Also went through public hospital and didn't cost anything. Except a lot of mental anguish on our behalf.

Good Luck.

Nikkie, if it helps, a friend of mine was in the same situation and had the amnio test and everything, only to pop out a perfectly healthy little baby. I can imagine how hard it must be for you at the moment. Let us know how you are going. I'm sure everything will be fine for you.

The costs for testing depend on what state you live in, your age, and what your calculated risk is. To get the FISH test (it gives prelim results within 24-48 hours), you usually have to pay out of pocket.

well from reading a lot of this my mind sure is a little more settled that the drs make you stress out about this more than you should and that usually everything turns out fine!

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.

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.

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.

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.

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.

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!

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.

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:

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.

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.

My 12 week scan put me at 1:1100 but the nuchal translucency at my 20 week scan put me at 1:104! They originally couldn't fit us in for two weeks (!) but they fitted us in in four days for an amnio. I didn't have a local which I believe some doctors offer, and it hurt a little, I guess like a normal needle. It is a really long needle so I think the mental torture is worse. lol.

We got the FISH results in two days which I think are the main DS chromosomes and also found out the gender. The final tests came back about two weeks later.

It was quite a relief to find out everything was fine. I was mentally prepared at my 12 week scan for abnormal results but was totally devastated to have this come up at the 20 week scan.

Good Luck with everything.

Dear Joss

I hope all is well. I'd just like to say that I'm very glad I never had all the tests and worry that go along with them. I had 4 lovely (boringly normal) pregnancies with no concerns. All my babies were born within a week of their due date, good sizes with drug free births, quick labours, breastfed exclusively from birth and with no health issues. Oh did I mention that my 4th child has Down Syndrome? No prenatal test can tell you what it is like living with a child with Down Syndrome and whether you will cope or not.

She has been perfectly healthy, growing nicely, developing nicely and my easiest baby yet! I constantly thank God for an easy baby after I had 2 very full on babies (#3 is STILL a handful so I'm glad to have #4 who's laid back and non-demanding).

It really does sound scary all this waiting and wondering pre-birth. I think we can caught up in the what if's though. With all of our children, we cannot predict the future and what is in stall for us as parents. I don't know what is going to happen with any of my children. I don't know who will leave home first, get married last, have a good job, be hospitalised, etc etc. I just take each day as it comes. My biggest concern right now is for my 3yr old (without Down Syndrome) because he is the kind of kid who 'wanders' and would be the one out of all my children to run onto the road and get run over. I don't not want him though because if he did do that and ended up with severe disabilites I would find it difficult to cope. I will just deal with that when and IF it happens.

Good luck with the pregnancy and yeah, look at the positives eg 1:246 = 99.6% chance of everything being fine. That's good odds!

Cas

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

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

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.

Dear Cas (Nangari)

Thank you for such a refreshing post and a look into your life with your kids.

Take care,

Kate

Hi everyone. I just wanted to say thanks for all your words of advice to Nikkie about Down Syndrome testing etc. :) I too am about to undergo an amnio test as I have just found out that my NF & Blood works + my age (40) put me at a 1in175 risk factor, which scared me a lot.
With my first child (now almost 2 and beautifully healthy) I had a 1in1500 risk so didn't worry about the amnio, however this time round I don't think I could get through the next 6/7 months without knowing one way or another. Worst case scenario, I'd like to know beforehand so that at the time of birth I'm prepared - at least as much as you can prepare yourself mentally. My biggest fear is of course the unknown.
A friend of mine had an amnio and her results were fine, she has a very healthy 5yr old now. She also told me the needle hardly hurt, you do feel it, but no worse than any standard needle - it's just the size that's frightening. The only after effect she experienced was that she was tired for a day. however I think this is largely due to the stress we place upon ourselves leading up to the test.
Anyway, being new to this website and forum and reading the responses you posted for Nikkie, has lifted a weight from my mind and has answered questions I didn't even know I had.
I will be having my amnio at 16 weeks (2 weeks time) and just can't wait to get it done and get the results. Am madly eating lots of chocolate at the moment out of comfort and will of course pay for this later as I'm also at a high risk of gestational diabetes (which I had with my first pregnancy).
So overall, due to my history of gest. diab. + I've had 3 miscarriages and now the nuchual fold test results, I've been a bundle of nerves.... but now at least I have some comfort from the feedback I found on this site.
THANKS EVER SO MUCH.
:lol:

Hi Miche

The risk of having a pregnancy with down syndrome for someone who is 40 years old based on age alone is 1/60.

If your risk with NF and blood has been calculated at 1/175, this is much better odds than based on your age alone. Therefore, the measurements taken (NF and blood enzymes) must have been really good. Has anybody explained this to you?

If you want to find more info or talk through the process of amnio, a genetic counsellor can help.

Good luck with the amnio,

Kate

Hi everyone sorry ive been mia my internets been down forever!! All tests came back good i didnt go through with an amnio but from the blood test i was low risk a lot of stressing about nothing!! Thanks for all your support and information

Hi everyone
Thanks for all the information and support, like Nikkie, I've got my amnio results back and they've all come back as normal, so worry was for nothing. However the worry was certainly eased by the support and information I received from this site.
I also found out I'm having a girl (couldn't wait this time round) and so now I'll have 2 beautiful girls. Number 1 girl turns "2" next week (dob 06/06/06!!!) and she's looking forward to meeting her new little sister one day.
Thanks again to all and I look forward to spending more time on this site.
Miche.