Abnormal Nuchal Translucency scan

Hi everyone :) ,

I'm new here ...I'm in my 14th week now and had my Nuchal translucency scan done in the 13th week..I'm 27 yrs old and offered to have the Nuchal translucency scan done on my own..though My doc never recommended that...

i went thru the Nuchal translucency scan without any worries and the results have me worried..since the doc told me its abnormal with nuchal fold thickness of 3.3 mm which is beyond the safe limits..he said anything betn 1 mm to 2mm is the normal limit..and i had MSAFP (blood work) done the same day and the results came in 3 days with the same abnormal result...I asked the doc for my hormonal values and it turned out to be HCG = 0.39 MoM and PAPPA = 0.99 MoM...But blood work is dependent on Nuchal translucency scan and i have no hopes to rely on this test either..The Doc called me the next day and offered me Amniocentesis ..but me and my spouse are not going to take the risk of an infection or a miscarriage...Also my baby heart beat rate was 164 beats per minute at 13.3 weeks and the baby was too fast and uncoperative that the technicain had a tough time measuring the fold thickness.So i was guessing some human error which calculating the thickness of the fold...She just banged my belly a couple of times..since my baby was very uncoperative..

After the Nuchal translucency scan and blood work results my score rose from 1/1100 to 1/230 of having a DS baby ...My doc ruled out trisomy 18 and is concerned about Down syndrome..

We are quite assured that our baby is normal and don't talk about it much at home..But i thought it would be great if i could have people around who could give me the nuchal fold thickness and could make a comparison myself...I will have another Nuchal translucency scan at 18-22 weeks in which the fold thickness should not be greater than 6 mm...So just praying that everything works out fine and i have a healthy baby by feb 24th 2007...
Hoping to hear from u all..

Hi Jessy and welcome to BB.

Firstly, a 1:230 chance of Down's is a 229:230 chance of "normal", so it's up to you how you look at the statistics.

Second, I believe the fold should be under 4mm at the scan, which it was for your baby, so that's something else that's going OK. My baby was a wiggler too and it took the sonographer a few tries to get a good scan of the nuchal fold (?1.3mm, but I'll double-check), although I wasn't banged about! I'm going to check my notes later and post back, but I think the heart rate looks similar to my baby's too. Hmm, not sure if they could measure the heart rate, the baby was that wiggly, but I'll post any details I have!

Where abouts are you in the world? Just I can't read your blood results and normally I can read results! There are other scan tests that can be done at the 20w scan, like looking at the heart development, but I would talk about the slight chance of a Down's child with your DH, just in case. I know I would not have liked to have that conversation with my DH, but we were lucky with the results so avoided that. Still, it's something to think about.

Feb babies are fab anyway, so I'm sure you'll have a great baby no matter what!

Hi,

Thanks for the reply...and I'm in texas, USA..
Also let me know about further screening tests...I heard i have to go thru with Quad scan anywhere betn the 18-22 week...And i'm hoping for a more positive answer then...
Thanks..

I too am awaiting my NT scan results hun,
But from your result, as Ryn said, it sounds pretty low still.
I mean, it only means you have a 1 in 230 chance of abnormality,,,,,So in my books, it is a risk worth taking any day for a precious bub.
I am sure you will be fine, and so is your bub, and like Ryn says,,,,,Feb bubs are georgeous/brilliant/precious etc,,,,,I am one myself, and so will be my bub (so you just KNOW I am not byassed huh? lol)

Hi Jessy i replied to you thread in second trimester.
What is the Quad scan ?

Please email in you need to talk my chances of a Downs baby was 1:294 and i had the amnio done last week and waiting for my results.

ETA: With them looking at the heart development at 20wks it doesn't always mean you will have a baby with downs if they find a problem with the heart as a baby without downs can hane heart problems. I was going to wait till my 20wks scan to see what was going on and if we can tell from the scan if something was wrong and after talking to a genetic counsellor she said they can't always tell as some markers they find could still not mean the baby will have downs. The only way to know for sure is to have the amnio done. Even if you get bad results and keep the baby at least it can prepare you for the future with your child.

Ryn the reason you are having trouble reading the blood results is because what Jessy posted are not the usual IU/L you are used to - for screening "MoM" is used instead. This is Multiples of the Median. A reading of 1.0 MoM means the result was exactly median. A reading of 0.5 MoM means the level is half the median. 2.0 MoM is twice the median and so on. Note there is a wide variation in "normal" pregnancies. There is no magic MoM level where it can be said that the baby is definitely normal or definitely has an abnormality, as normal and downs babies can mostly get values in the same range. From any single individual's results you can't say whether it is or isn't affected, you can only calculate the odds, in Jessy's case 1:230 chance of Down's. I certainly wouldn't bet much money on a 1in 230 chance - but a 229 in 230 chance (which is the positive way of looking at it that the others have mentioned), I'd bet money on that!

Jessy your increased risk is probably mostly or entirely due to your NT result, at least for downs. Your NT result is at the lower end of "high", and yes mistakes can be made in measuring it but chances are its close to right. High NT results can indicate problems other than downs, although at the level yours is the usual outcome is a normal baby albeit with slighly higher than normal risk, so you are right not to worry too much about it. Focus on the 229 in 230 chance of something good happening!

The good thing is your blood results do not increase the downs risk. In downs populations the HCG MoM is around about 2 MoM and yours is 0.39 MoM. So yours is less than half the average whereas the average downs is double the average. That's not to say a value of 0.39 MoM doesn't mean the baby doesn't have downs, but it makes it less likely. PAPP-A MoM for down's babies on average is about 0.4 and yours is basically right on 1.0 MoM so again there's nothing here that is worrying. But for anybody else reading this panicking about their high HCG MoM or low PAPP-A MoM this doesn't mean it is downs, it just increases the odds, a little bit...

Think of it like this - you know bell curves that teachers might use for their students' exam results to decide who gets A..B.. results and so on? Well imagine you have 2 different schools, one huge school with 5000 students and one tiny school with 7 students. Say the average exam score for the big school students was 25, and the average exam score for the tiny school was 50. There would still be waaaay more students from the big school with a score of >50 compared to the tiny school even though the tiny school students had a higher average exam result. If the district school board bet you $100 to guess which school a student called Frank came from, given that his exam result was 50 marks, you'd pick the big school because there are so many more students at the big school who would have scored that result compared to the 1 or 2 from the tiny school. But if the district board then said "Frank scored 50 and Bill scored 25, which one is *more likely* to come from the tiny school?", you'd say Frank because he scored higher. That last question is what the blood screening is all about - putting people into less likely and more likely baskets, but not with a lot of accuracy. Bill with his lower result could have just been the bottom of the class from the smart tiny school, and Frank could be a good student from the big school. Or Bill could be an average big school student and Frank an average tiny school student. If you replace "big school" with unaffected babies, and "tiny school" with Down's affected, and "exam result" with HCG screening test ... that's the way it works.

I probably made that as clear as mud...but I tried!!!

Ahhh, median results! I did realise they weren't in "normal" units, but TBH using "median" results is just like a popularity test, I don't see why that would be done. I'd rather have the cold data any day from which to draw conclusions, we worry enough about "normality" without having tests that tell us we're not normal! Sorry, I hate the way statistics can manipulate things, probably why statistics was always my strong point and I love manipulating data to show what I want it to! But that's the point, never trust a statistician, they're just a liar with stuff to back them up. Sorry, mini-rant over. But the median is all about popularity and "fitting in with normal", something I hate!

Anyway, rant over - my results were NT of 1.7mm and heartbeat "present"; I don't even recall seeing one, the baby was that wriggly, but the sonographer probably did see one. I'll try and get a sleepy baby for the next scan.

Jess, I don't know what other tests you'll be offered, over here (I'm in the UK) we have amnio, CFS or the "triple test", which is a blood test for hCG, AFP and oestriol. I don't know much about the quad test I'm afraid. Best of luck to you!

Ah yes statistics and wanting to be "normal"! Well there's not really any such thing as normal is there :) Sure people would rather just have the cold hard numbers for a HCG test, and the test probably shows the real value along with the MoM.

But for the serum screening for Downs and other abnormalities, honestly, all its about is statistics and how far from average you are, what shape the bell curves take, and that's why they use MoM. They then add in a bit more maths and trickery and then you get a risk factor of 1 in 230 or whatever. If it was an exact science they'd just tell you right out whether there was anything wrong or not. Unfortunately at this stage all they can do is stats, which is at least better than a guess and reduces the number of un-necessary CVS and amnio procedures done, by targeting those procedures at people who are more likely to come up with a problem.

Ryn is right though ... just remember: not being normal ... is normal :)