Increased Nuchal Translucency

[GIZMOE]

Hi Guys,

We have just found out that my husband's sister inlaw had an 11 week ultrasound done where they found that the baby had an increased nuchal translucency.

Does this basically mean something is wrong eg: Down Syndrome or other problems or does it just mean they are at an increased risk of something being wrong.

Any Information would be wonderful

Amy

[MilkOnTap]

I have a fairly limited knowledge of nuch's and how they work, but as far as the nuchal translucency goes the higher the number the better. There is a ratio given (ie, 1:798) and the higher the number, the better the chance of your baby not suffering from Downs Syndrome. The lower the number (ie, 1:200) the higher the chance of the baby suffering.

The report which the radiographer provided with the ration of the nuchal would also indicate further recommended action.

I hope this helps :o

[GIZMOE]

Thanks Ali,

Yeah I don't know a lot about it either. Because mine was 1/1000 nothing further was discussed about it.

Her result came back as 1/11 which I am assuming is not the best.

[tickle]

If they find there is a higher chance of abnormalities, they will usually offer more invasive testing. The scans are not always that accurate though. Good luck to your SIL. :)

[Elfin]

As far as I know it is still a soft marker for Downs, so it is not 100% absolute that if your nuchal folds are thicker then your baby has downs but it does increase your odds if that makes sense. The only way accurate way to test that a baby has downs or any other chromosomal problem is by doing a CVS or Amnio.

I have heard of a case where a technician actually messed up the measurement so hopefully that could of happened. A second ultrasound if there is still time by someone else might be worthwhile before invasive testing.

When my baby had a soft marker for Downs (echogenic cardiac foci) I found this site absolutely invaluable http://choroidplexuscyst.org/forum/. (Hope I am not breaking any rules by posting this link) There are a lot people going through the same thing as your DH's SIL so she would get support and some good advice as to what the marker actually means. Choroid plexus cyst is a different marker for T18 but on this forum all the different markers are discussed and the moderators there are very knowledgable.

Hope that helps and I am wishing a very positive outcome for her baby.

[bekkyboo]

is this a test that is meant to be done at 11 weeks? i am this now, and it seems that my dr's are having fun ignoring me and not telling me what tests need to be done and when.

[MariaO]

Hi Beckyboo,

They may only suggest the tests if you are over a certain age, and therefore higher risk category -perhaps you should ask your doctor about them.

If I remember correctly there is a 5% false negative/false positive chance on these tests. There is also blood tests that accompany the ultrasounds itself.

[tickle]

Bekkyboo:
Hi, all dr's take a different approach when it comes to the NT scan. I personally didn't have it. You are in what they call the low risk group (because of your age)and many doctors wouldn'tt think it is necessary for you to have this scan. If you want it done, just tell them you want a referral or go to a different dr. They can't refuse you if you want to do it. It's all up to you in the end. :)

[Elfin]

The other ladies are correct. It is usually age based, at 21, your risk of Downs is much lower than someone aged 35 or over so I doubt your doctor would refer for a NT scan and the blood tests. But if you are keen you can ask your doctor.

[xkwzit]

Thanks Ali,

Yeah I don't know a lot about it either. Because mine was 1/1000 nothing further was discussed about it.

Her result came back as 1/11 which I am assuming is not the best.

Hi Amy
1/11 is a really low number, but its still only 1/11 (ie 10/11 its OK). I'm not trying to fill you with false hope, but a friend of mine had her test probability of downs come back as 1/11, and an amnio proved that all was well. They now have a very healthy 3 yo girl. So encourage your SIL, it's not yet AT ALL certain that she's got a baby with Downs. The amnio is much more accurate, as they sample the baby's cells for analysis.

Cheers

[Lunar]

Hi, the test is usually done between 11 and 13 wks and only if you are in an at risk category or if you request it (then of course you have to pay the $100+ for it)
I ahd the nuchal test done this pregnancy and results were 1/4560...very low risk, but it is not a very reliable test, only approx 70-80% of downs is detected and this is With the combined blood test, if you just have 1 or the other the reliabilty is decreased. Also with amnio and cvs they are NOT 100%, nothing is 100%. They are of course far more accurate but carry a chance of miscarriage, so you do have to weigh up that probabilty with whether or not you would do anything if the tests came back positive for downs, if it did'nt and you lost a healthy baby, you have to consider that as well.
My first daughter HAS Down Syndrome, I know all the ins and outs of the syndrome. And believe me, she does not SUFFER from it, it is part of who she is like her beautiful brown eyes and cheeky smile and sense of humour.
If everyone in the world was the same, what a boring place it would be!
Tell your SIL not to worry (although she will) if she wants this baby as much as it sounds like she does, she will follow her heart and see that what is meant to be will be!
Hope this helps, any questions just ask.
xxx

[reAllytee]

I myself dont know much when it comes to this cause i didnt have to have the test either obviously due to the risk category.
But i did have a friend who upon having her u/s had a low score she then had to undergo a blood test (?) not too sure on that but it came back fine & it ended up the radiographer got it wrong & measured wrong. Shame it put a lot of strain on her but she now has a healthy happy baby boy.
I had a radiographer freak me out as my bubs was found to have extra fluid on his brain at the time he tried to act like it was "normal" to have the in house doctor come check his work. They smiled & acted like all was fine but i then get to my doctor to find out about it & that i would need another u/s later in the pregnancy etc. Luckily all was fine with the spine so spinabifida was out & then like we found out by reading up on the net & talking to nurse friends the fluid dissappeared which was normal as when the u/s was done it was obviously when the spinal cord was producing the fluid & the brain had no time to soak it all up.
As one of my midwives stated after the u/s arent always 100% as with anything & that as they are so advanced nowadays they pick up anything which isnt always a good thing.
I hope all turns out well for your SIL.