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Nuchal Translucency - tell me your stories

(28 Posts)
Junosmum Fri 17-Jul-15 17:36:08

I'm 14 weeks tomorrow. I had my scan last week and the combined blood test. No results were given at the time, which is standard for my hospital. As the midwife was taking my blood she told me that they'd write to me with results if they were good (low risk) and I'd get asked to come in if there was a problem (high risk). I got my letter today, and I have an appointment next Friday morning. So I already know it's high risk. And I know what that means. I know I will be offered further diagnostic tests which both carry a risk of miscarriage.

Can anyone tell me their stories, positive or negative of having such an experience?

Thanks.

Skiptonlass Fri 17-Jul-15 18:04:51

Hi. Im sorry you're going through this, it must be incredibly worrying.

Firstly, just to say that the bloods and ultrasound are indirect measures. You may have a higher risk but that doesn't automatically mean there is a problem. A risk factor of 1:20 still means you have a 95% chance of everything being ok.

Secondly, the next step doesn't have to be invasive. You could have non invasive prenatal screening (NIPT) such as the harmony test. This looks at the DNA so it's direct, rather than indirect. It's extremely accurate. It is still a screening test (over 99% accurate, but technically it's still a screening test, not diagnostic.)

If that comes back with an issue, then you do need to go to an invasive test, because only they are (almost) definitive.

Wishing you strength - waiting is tough.

Grizzer Sat 18-Jul-15 08:28:26

Hi Juno. I am 14 weeks & also received a phone call asking me to go in to discuss my results. I have a 1:25 risk which is considered very high risk but with my dd I was given 1:2. She is now 5 and has no special needs or issues. My view is I will always have high risk when it comes to blood tests. What was your baby's nuchal fold? Mine is 2.2 which is the lowest I've ever had so I'm not too concerned. The screening nurse said one of my risk factors was the hormone level which could have given a different reading at any given time.
The good news is, if you are high risk, they now offer a further blood test which gives a 99% accurate result for down's so invasive testing is not necessary (unless you want a 100% result!)
In my 2 previous pregnancies I was given such a high risk I had the cvs test which I always swore I would never do but when faced with the situation, I just had to know. My dr said they have to put a number to it & say the risk of mc is 1:100 but in reality it is much lower. He had never done a test that resulted in mc. Having said that, now they offer a blood test, I would not take any unnecessary chances.
I'm waiting for the results of my blood tests now - another 2 week wait! Let me know how you get on.

Junosmum Sat 18-Jul-15 09:06:56

Thank you. I appreciate you both taking time to reply. I've been a wreck since getting the letter. I don't think it helps that I work with adults with learning disabilities and know what happens when parents are no longer able to care for their disabled adult children.

I also don't think it helps that they haven't told us the nuchal fold measurement so I've got to wait until Friday to find out anything. I hate not knowing.

The other blood test, is that routinely offered by all nhs trusts now?

Grizzer Sat 18-Jul-15 09:20:29

I'm not too sure. Apparently my hosp has been doing it since January, but it's only offered for high risk. The midwife at my booking appointment didn't mention it though. I only found out when I got my results. I don't get the impression all the staff now about it so not sure how much it's been used.

NewMrsX Sat 18-Jul-15 10:11:07

I had high risk results. The NT was at the higher end of normal and I am mid twenties so it was bloods pushing my risk up. I opted for a CVS. I was offered the blood test privately through the hospital at a cost of around £600 and I looked into that initially but decided against it as it's not 100% accurate. It's very close but after my high risk result I wanted a definitive answer.

The procedure went well, I rested for a few days and I am now 24 weeks with a baby boy who doesn't have any of the 3 main trisomies.

My bloods have low Papp-A which pushed my risk up. This means there may be restricted growth in the third tri as the placenta may not function properly. I am booked in for extra scans but they weren't very forthcoming with info really, so once you get the testing hurdle out of the way I urge you to ask about what happens next.

Good luck flowers I remember how scary that time was xx

Junosmum Sat 18-Jul-15 12:30:29

So I've just checked my notes (no idea why I didn't do this yesterday, I'm an idiot) and the nuchal fold is 1.3mm, which I understand to be good/ normal. Which means it's my bloods, age and BMI - 31yo and 26 for the latter two, which are throwing it off?

scarednoob Sat 18-Jul-15 13:45:55

I'm 37 and I had a BMI of 33 when booking in and a NT of 1mm at the 12 week scan and I got a low risk result. So I'd have thought the bloods would be most likely out of those as you are slim and young.

If it helps to hear a positive/silver lining, my friend who is v fit but 39 was given a 1 in 6 risk. She was v stressed at the time but when the amnio came back all clear, she now knows her baby has no issues.

Really hope you have a good result.

Grizzer Sat 18-Jul-15 13:47:16

It's probably the hormone one which apparently could give a completely different reading at a different time. It doesn't sound like you have anything to worry about.

Junosmum Sat 18-Jul-15 13:49:22

Thanks guys. I really appreciate you all helping a stressed out pregnant lady. Feeling much calmer now. I'll let you all know how I get on Friday and subsequent tests etc.

JJXM Sat 18-Jul-15 13:58:23

My combined test came back at 1 in 90 for DD and we opted for an amnio. We knew that we would terminate if the results came back positive and so we really needed a definitive answer. The amnio was ok and done by a consultant. The risk rates for invasive testing are not necessarily a reflection of the miscarriage risks especially as they are now done using ultrasound. My consultant said to me that many of the pregnancies which miscarry after the amnio tested positive for one of the trisomies.

Most people go ahead with diagnostic testing either to prepare for a baby with Down's syndrome or to be in a position to make a decision.

My daughter did not have Down's syndrome but it was an incredible stressful time.

Skiptonlass Sat 18-Jul-15 15:09:04

Hi Juno,

I just want to make a point about BMI. Your BMI does NOT affect the risk but is used to calibrate the bloods. What I mean by that is that BMI is not in itself a risk factor. They just use your weight to adjust the blood results.

I've made this point on threads before as women have been beating themselves up over raised BMI! Age you can't do anything about of course, but 31 isn't old. Your BMI is fine, but I just wanted to say this in case anyone reads and panics. smile

I hope it all goes well for you - a 1.3mm is very good - mine was higher than that!

Junosmum Sat 18-Jul-15 16:11:34

Thanks. The rational bit of my brain was trying to work out how bmi would affect the quality of my eggs. I understand it's affect on fertility generally but couldn't get my head around that one!

Boosiehs Tue 21-Jul-15 13:34:04

I'm panicking. I'm 37, just had scan last week and NT was 2.5. Bloods will take 3 weeks!

Utterly convinced that something is wrong.

sad

ChicaMomma Tue 21-Jul-15 16:24:29

Generally, if your risk comes back higher than your AGE risk, they'll call you in. AFAIK. So if you're 37, and your age risk is 1:140, and your test results are 1:100, then that's high risk. BUT, that's still 99 babies that are born perfectly healthy.

Things like the CVS really carry a TINY miscarriage risk. Sorry you're going through this, it's a tough time, but in all likelihood the outcome will still be good.

ChicaMomma Tue 21-Jul-15 16:25:17

Boosiehs 2.5 is not that high, isnt it over 3.5 that is a worry? i cant remember but i didnt think 2.5 was that high.

goldenhen Tue 21-Jul-15 16:59:55

Not an expert by any stretch but 2.5mm doesn't sound that high, maybe top end of normal? Mine was 2.4 which I was a bit hmm about but then my risk came back really low, like 1:1000 or something. I'm 34 and pre-preg BMI was 27.

MaltaVestrit Tue 21-Jul-15 20:10:00

boosiehs mine was 2.7mm and just had my letter to say low risk, 1:1980 ! I have a BMI of 33 and age 31 so absolutely do not panic. I'm pretty sure I remember the sonographer saying over 3.5mm was a worry?

Boosiehs Thu 23-Jul-15 11:14:01

Thanks very very much all. I am having the Harmony test in 15 mins. Fingers crossed!

x

ChicaMomma Thu 23-Jul-15 12:08:49

OOh best of luck- i had my harmony (well actually panorama) a week ago yesterday, eagerly awaiting results, every time the phone rings i almost fall off my chair!! Do you know how long you will have to wait? The results have to go to the US right?

Boosiehs Thu 23-Jul-15 12:12:49

10 days they said. The ultrasound looked normal. Same NT

Boosiehs Thu 23-Jul-15 12:13:49

However because I am fat the test might not work! Argh!

ChicaMomma Thu 23-Jul-15 15:36:49

What a pile of crap- i was never told that- i'm slightly overweight in terms of BMI. is blood not blood?
Your NT measurement is not a worry anyway, that's a good start. Be positive. The wait is a KILLER THOUGH!!!!!!!!!!

Junosmum Thu 23-Jul-15 19:20:50

Depends how overweight a person is, slightly overweight should be fine but very overweight and there's more blood in your body but the amount of baby DNA doesn't change and so it's diluted and they may not be able to extract enough of it to reach a conclusion.

Boosiehs Fri 24-Jul-15 11:39:42

Yes - its the dilution issue. They took A LOT of blood (more than an armful - fnar), so hopefully there is enough. I'm also a bit further on (13 +1) so more fetal dNA circulating hopefully.

I HATE WAITING!

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