Tests for down syndrome

**Rainbow_Mumma** · February 8th, 2008, 01:02 PM

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

**meow** · February 8th, 2008, 01:07 PM

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.

**Indadhanu** · February 8th, 2008, 01:14 PM

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.

**~Flossie~** · February 8th, 2008, 01:19 PM

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

**fionas** · February 8th, 2008, 01:21 PM

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.

**Rainbow_Mumma** · February 8th, 2008, 01:22 PM

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!

**Indadhanu** · February 8th, 2008, 01:29 PM

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:

**Stars69** · February 8th, 2008, 01:42 PM

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

**~Flossie~** · February 8th, 2008, 01:48 PM

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.

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

**nangari** · February 8th, 2008, 09:08 PM

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

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

Cas

**satya** · February 9th, 2008, 02:04 PM

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.

**Jesstibb** · February 9th, 2008, 05:12 PM

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.

**Isadora** · February 9th, 2008, 05:20 PM

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.

**HotI** · February 9th, 2008, 05:49 PM

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.

**Rainbow_Mumma** · February 10th, 2008, 05:30 AM

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!

concerned1 · February 17th, 2008, 06:13 PM

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 · February 20th, 2008, 08:24 AM

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** · February 20th, 2008, 08:36 AM

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.