Nuchal fold test - results

[Cha]

Just had my 12 week nuchal fold test and we are unsure of what to do next. Just thought I'd ask you wise women out there what you think.

I am nearly 36 and therefore have a 1 in 210 risk of having a Down's Syndrome child. After the scan, this went up to 1 in 1745. The sonographer said if we wanted we could have a CVS in the next 2 weeks which carries a 1 in 100 risk of miscarriage. Anyone out there with similar stats? What did you do?

[bundle]

Cha..if your "age" risk is 1/210 and the risk from the scan is 1/1745 then your actual risk has gone DOWN surely???? ie the number has increased but this means out of 1745 women with the same age/scan as you, then imagine just 1 having a Downs baby - with just your age ie without the scan that risk was 1 woman out of 210. or maybe I'm just not getting it??? when I had dd1 my age risk was about 1/250 and this went up to nearer 1/200 ie screen positive, more than it should have been for my age and I opted for an amnio even though it wasn't a massively increased risk.
I've read too that cvs carries a higher risk than amnio for miscarriage (amnio 1/100 or 1/200 depending on who does it) depending on when it's done and by whom. did the sonographer offer to refer you to a genetic counsellor to talk the options through thoroughly?

[bundle]

cha - do you remember what the actual nuchal fold measurement was? mine this time was 1.2mm, well within limits (upper limit is 3mm I think)

[aloha]

Personally, I think your result is fantastic. You don't get much better than one in 1745 - very, very low odds. I had a one in 800 risk (I think) and the scanner was very much in favour of not having the CVS or amnio. I was 37. I suppose it depends on how you would cope with the remote and tiny chance of having a Down's child. I didn't think it was worth risking what was almost certainly a perfect normal & healthy baby. THis has to be your decision, but personally I think your nuchal fold result sounds as definitive as it could be that your baby does not have Downs. I suppose they looked for all the other soft markers - cord, heart & maybe even nose bone? If there is no heart problems showing up this is even better news.

[bundle]

I couldn't agree more with what's being said by others cha. if you do go ahead with invasive diagnostic testing you have to be pretty sure of what you'd do if the result wasn't a good one. i've a friend who had a termination this week - a Downs pregnancy, her sonographer noticed something straight away and the cvs was done quickly.

[caroline55]

Cha, with my second child, I was 36 and had a similar stat of about 1 in 1700 - which I was told was very good. It does sound as if the sonographer was rather confusing even to suggest a CVS with such odds.

Did you have a combined test? I had mine done at the Centre for Foetal Medicine in London (a charitable trust) and they take the blood test result and scan result and combine them to give one stat - I've heard from friends who've been to our local hospital that they got one result from the blood test and another from the scan which does sound less clear cut. (Sorry, this could be mroe confusing and may have changed since my dd was born.)

If you still feel unsure, you might ask if you could go back to the department that did the scan and have a brief discussion with the relevant person.

[RosieT]

Obviously this is an entirely personal decision for anyone, and I fully agree with all those suggesting you need to think about what the results of an invasive test will mean to you. However, I've heard that for every Down's baby identified via amnio/cvs, 4 perfectly healthy babies are miscarried, which put it into perspective for me. Looking at your stats, Cha, the likelihood of Down's is much less than the likelihood of miscarriage, and this is what I'd hang on to. But as I said, it is a very, very personal decision and it all depends what you'd do in the event of discovering your child does have a chromasomal abnormality.
Probably not a lot of help, sorry. I know it's a difficult one, but to me, your result sounds very good ? I didn't go for invasive tests after a result of 1/900, however I've known people who have gone on to have them after much "better" results. There's a lot more about people's personal views on this on the amniocentesis threads.
Best of luck in whatever you decide!

[Marina]

Cha, agree with all that others have said here. I recently had a nuchal for a desperately wanted third baby, and at 39 was chuffed to bits to get a 1 in 498 risk result.
I do think 1 in 1700 is a very good result for you.
I personally think that while CVS is an excellent option for high risk pregnancies where the parents know they would not proceed with a Downs pregnancy, in a case such as yours the risk of losing a healthy baby far outweighs the risk of a Downs pregnancy. I am guessing here but surely, if you had said yes to a CVS, the Sonographer would have referred you immediately to a doctor - who is much better placed to counsel you on the risks of such a procedure? You could always ask to speak to a consultant anyway - it sounds as though maybe the risk aspect of the nuchal scan result was not explained to you properly. I don't think any doctor would pressurise you into an unwanted invasive test on the basis of your scan result.

[EmmaTMG]

When I was PG with DS2 at the age of 27 my result should have been 1/1800 or so but the result turned out to be 1/16 so we were offer the cvs test, which we took.
All I would add here really is to agree with everyone else and say your results are very good and personally I wouldn't have any further tests in your position but if you decide too then the cvs test really wasn't painful at all so thats a factor for you not to worry about.
By the way my results came back all clear and by 15/16 weeks the nuchal fold had changed to a much better result.

[miriamw]

Cha,

The Harris Birthright Centre (where I had my nuchals done) recommends further tests where the nuchal scan indicates 1 in 300 or less. As your result is better than that, I'm not sure you need worry, unless you've made a typo somewhere. Basically if your result is 1 in 1745 you are over 8 times LESS likely to have a Downs baby than the average woman of your age - you should be skipping for joy! I'm 33 and my result went from age-related 1 in 405 to 1 in 712 based on the scan. We didn't do any further testing, though it is offered (apparently automatically).

Good luck with your pg.

[zebra]

Cha: you might want to search for the other amniocentisis thread on this subject. Your risk statistic is extremely good, but it's no guarantee of a healthy baby; you could be that lucky 1 in 1745 woman. If it was me I would definitely skip CVS but still consider amnio (which has lower miscarriage risk than CVS) if I felt like I couldn't accept a chromosone damaged child.

[zebra]

Ps: my cousin had a down's syndrome child at age 29, when the general risk is only about 1:1200. If you lurk on the Down's syndrome boards you read about 18 year old moms of Down's babies. That's really affected my perspective.

[aloha]

I think the Nuchal Fold is being seen as more and more reliable as testing goes on. In conjunction with looking at the cord, the heart and the nose bone it is considered extremely accurate. But of course, there are no absolute guarantees with babies. Even if you had a CVS and found out you definitely 100% didn't have a Downs baby, you might discover later that your child was severely autistic, for example. We all long for certainty but there isn't any. Right up to the day I had ds I had a slight niggling worry every so often, but I'm so glad I didn't risk losing him. HOWEVER, if I have another I will be 40 and then will probably have a very early CVS. That is partly, I think, because any other child we bring into our family will affect my ds and dh's dd. In the end it has to be your call but don't lose sight of the fact that your result could hardly have been better.

[susanita]

Cha
I'll only really add to what the others have said - if it really is 1 in 1745 then your risk has really gone down. That diagnosis seems wonderful compared to mine in my 2nd pregnancy (I'm now 27 weeks pregnant): 1 in 60 chance. You have to consider what you would do if the diagnosis from a CVS/amnio is that it is a Down's baby. Do you think you could have an abortion?
The way we saw it in my first pregnancy is that the risk of miscarriage after CVS or amnio was higher than my then risk of a Down's baby (which I can't remember right now but it certainly wasn't as good as yours) so we didn't proceed. Our son was born healthy.
This time around, even with the above result, we decided we couldn't terminate anyway therefore why put ourselves through a CVS or amnio when there's a risk of miscarriage?
It's a very personal decision - only you know how you and your partner might cope. I can only say that if I'd had a diagnosis of 1 in 1745 I'd be overjoyed but I do so understand that thought of 'what if I'm that 1?'
Hospitals usually have counsellors for this kind of situation, at mine it's a midwife. Maybe you could see if you could talk things through thorougly with a counsellor who'll also go through the statistics with you and clarify them better.
Good luck with whatever you decide to do.

[Cha]

Thank you thank you thank you. My sonographer was very young and inexperienced and also I told her my worries as a neighbour has just had a Down's baby after a positive nuchal fold test (though haven't asked her what her stats were).

I have been weighing it up and I think that the chances of a miscarriage from the CVS of 1:100(I am at the Harris Birthright at King's College too which has a very large and experienced maternity dept, hense the relatively 'good' stats for CVS) are much higher than the 1:1745 risk of Down's.

Because my sonographer didn't know if it was a 'good' result or not (or wouldn't say) I decided to ask you lot whether it was or not. I have my answer and I am going to stop worrying and get on with my pregnancy. Thank you all for your kind words and unjudgmental reassurances.

[bundle]

Cha, glad to hear you're encouraged by what everyone's said. Even if she was inexperienced, the sonographer could have a chart in front of her - like my genetic counsellor showed me - of average results for women of specific ages...which at least puts it in context for you. hope everything else goes well, x

[zebra]

I was just looking into this because we're thinking about TTC, and I'd be 36 when the baby came... Maybe some of this will be helpful to somebody.

Nuchal fold catches 60-80% of chromosone abnormal babies. Privately (not with NHS) you can get a combined nuchal fold-blood test (2 biophysical markers) also around 12 weeks. Cost in the region of £200. You can pay more to get the quadruple test (4 biophysical markers) around 16 weeks. There are places which will feed all the results from the 2 blood tests+nuchal fold+your age into a computer to calculate your risk.

And they still only catch about 85% of the chromosone abnormal babies. Ultrasound might catch another 5-7% looking for "soft markers".

So that means 8-10% of chromosone defect babies that just can't be detected without invasive testing.

Also, CVS sometimes comes up with an ambiguous result: CVS can find Mosaic trisomy (partial chromosone duplications) in the placenta. But only the placenta may have the problem; the trisomy may not be in the baby at all. So you would still have to have an amnio to know for sure.

Against that you have to consider risks of CVS/amnio; in addition to miscarriage they may just manage to puncture the baby during an amnio and cause physical damage, including brain damage (see AIMS website). A woman even died in the UK from sepsis following an amnio. I have the impression that if amniotic fluid gets into a woman's blood stream that would also be fatal.

Moreover, something like 3% of all birth defects cannot be detected with amnio. Occasionally an amnio has to be redone because insufficient fluid is withdrawn. I've heard it can take 3 weeks for full amnio results to come back in some health authorities; which would take most of us to at least 19 wks pregnant. Who would want to terminate so late?

Not a nice lot of options, is it??

[Caroline5]

That's really interesting, Zebra. I was told by our sonographer that we shouldn't have both blood tests and nuchal fold tests done as they often give such different risk factors, you are left totally confused. Is this right, do you know?

[aloha]

Cha, I'm delighted! If you have your nuchal fold at Kings then you are lucky (as was I!) because that's where they invented it and the stats there are brilliant. I also don't think the blood test is a patch on the nuchal fold so wouldn't bother to have both. The risks of cvs and amnio are, I think, overstated - not the miscarriage, though that is lower with a good practitioner, such as you'd find at Harris - but the other scary stuff that Zebra has posted. Sorry Zebra, but I truly think the AIMS stuff needs to be taken with more than a pinch of salt - they are the provisional wing or, indeed, the Al Quaeda of Midwifery and fond of scaremongering. Cha, I honestly think you've made the right decision and I'm very, very pleased for you. Enjoy being pregnant.

[zebra]

I think AIMS just has a very noisy bee in their bonnet about women being totally informed (& empowered) about risks and choices. AIMS were reviewing real incidents (like amnio needles really do occasionally poke the fetus). I think they cited 5 cases in a 3 year period. So, Very, very rare, but it's a quite appalling thing to consider.

Caroline5: I imagine the AFP might only be able to catch 20% or so of Chromosone defects, but the nuchal fold would spot 80%. So you would need to interpret the tests relative to how sensitive they are. Example: the general risk at age 36 of chromosone defects in a baby is about 1/150. Nuchal fold might take that, at best, to 1:1745 (like Cha got). AFP might not be able to lower it to any better than 1/500 (I'm guessing, don't know quite how good AFP is, but I recall AIMS has another critique for the interested...). It might seem like the AFP is contradicting the nuchal fold; but it wouldn't be. Both the Nuchal fold & AFP would be indicating significantly reduced risk. Conversely, just because nuchal fold is thick -- would you dare risk an amnio? I used to think I would only risk amnio if both the nuchal fold & the AFP suggested high risk of chromosone defects.

I would treat the two tests as independent; AFP will catch chromosone problems when nuchal fold didn't, & visa versa. Therefore, to me, AFP still seems like a valuable thing to still have. You just have to remember that it AFP never going to give you as low a risk as the nuchal fold can.
If that's too confusing, then yeah -- just go with nuchal fold!

[Cha]

aloha - I had the absolute pleasure of interviewing the lovely, delightful Kypros Nicholaides who invented the nuchal fold at Kings. I actually watched him perform an amniocentisis which he did like it was the easiest, safest, most routine thing in the world. Maybe this made me feel less 'scared' by the whole invasive test thing, hearing him talk about it and seeing how he did it. That was when I did not know that my result was such a good one.

I wonder if they factor into the 1 in whatever result the fact that the nuchal fold only detects 80% of Down's? Or is your result only calculated on what the sonographer can actually see at the time? Anyone know?

[dinny]

I had my nuchal yesterday - average risk for my age is 1/250 and mine went down to 1/740

I still think that's quite high compared to dd and ds's results, who were up in the 1/1400s. Is it an age thing/ Have been reading some threads where people my age have much much better odds and am bit worried now. (the sonographer said was good result though)

Thanks.

[BumblBeee]

As I understand it the meds think anything above 1/500 is a good result.

What is good of course is highly subjective.

Here is my own humble opinion:If you have a low risk, say above 1/1000 you should bear in mind:

1. You will never get a no risk statistic or a 1/10,000 risk (as far as I know anyway)
   
   
2. The older you get your risk goes up so a 30 year old who risks miscarrying a low risk pregnancy may end up with a higher rate risk pregnancy next time.
   
   If you have a 1/500 or higher you must ask yourself what would be worse losing this baby or having a Down's baby.
   
   On top of this we all must remember that even if all our babies were born without Down's they still are at risk of many other health problems and disabilities in life (as are we) so you can not ever guarantee that you will raise a perfect, healthy child.
   
   Personally as a 42 year old I have decided to go for CVS if my result is below 1/1200 as I can live with the risk of miscarriage and do not have enough money or patience to have a severely disabled child.
   
   Not a great position to be in for us all I know!
   
   Good luck every one. xx

[becaroo]

My result was 1:1122 and NT was 1.8mm. I was told this was a low risk result.

I will be 36 in october and my baby is due in 3 weeks.

On the NHS you are not normally offered an Amnio or CVS unless the NT result is 1:250 or less.

HTH x

[dinny]

my NT was 2.0mm

think as it has lowered the risk considerably, that is suffifient for me