View Full Version : Nuchal translucency (NT) scan
Hello, Group:
Yesterday, on Friday my Wife had NT scan performed. The results were
very concerning. The doctor called us with the new that our baby might
have Down Syndrome, since the Neck fold measured at 5.9 mm.
Profile:
My wife is 26 with no history of Down Syndrome and I'm 28. My wife is
now in her 21st week of pregnancy. The blood test came back normal
that were used to test for Down Syndrome.
I would like to know if the baby's neck normally grows larger as the
baby grows through pregnancy?
Thanks,
--SF
Engram
May 31st 06, 11:46 PM
NT in the 21st week of pregnancy? I don't know too much about it but aren't
they done between 11 and 14 weeks? Also, it tests for a number of syndromes
and not just Down's. I'd have a serious chat to the doctor about why the
scan was performed so late and what it REALLY means to you. Not just Down's
but all of it.
This website http://www.mtsinai.on.ca/pdmg/Tests/nuchal.htm said that there
is "increased NT" if the fold is over 3mm. However, I don't know much about
foetal neck growth and whether one would expect the neck fold to be the size
of that of your baby when the scan is performed so late. The website also
says:
"The Nuchal Translucnecy normally increases with increasing CRL (crown rump
length or size of the fetus from head to rump) and medians have been
established for each gestational age.
Using these medians, the risk for trisomies can be calculated by multiplying
the background risk based on maternal age and gestational age by a
likelihood ratio (LR). The likelihood ratio depends on the degree of
deviation in NT thickness from the normal median for that CRL."
As well as: "To obtain risk assessment using Nuchal Translucnecy and age, it
is critical that the nuchal translucecny be measure between 11 weeks, 0 days
and 13 weeks, 6 days. Measurements are based on the crown rump length (CRL)
of the fetus as calculated by the ultrasound machine. Measurements outside
this window of time will not generate an individual specific risk."
Thus, I would have doubts about the efficacy of an NT performed at 21
weeks - way outside the 11 to 14 weeks time window. Your test was done
outside the critical time window - if anything does go wrong, I'd be
seriously questioning your health carer why they did not perform the test on
time. However, as NT is only standard care in Europe, you may have a test
case on your hands if you decide to take things to court outside of there.
I think you need to do some serious research at the medical library. I hope
that the result has more to do with the timing of the scan than with any
risk of abnormalities in your child. Good luck!
> wrote in message
oups.com...
> Hello, Group:
>
> Yesterday, on Friday my Wife had NT scan performed. The results were
> very concerning. The doctor called us with the new that our baby might
> have Down Syndrome, since the Neck fold measured at 5.9 mm.
>
> Profile:
>
> My wife is 26 with no history of Down Syndrome and I'm 28. My wife is
> now in her 21st week of pregnancy. The blood test came back normal
> that were used to test for Down Syndrome.
>
> I would like to know if the baby's neck normally grows larger as the
> baby grows through pregnancy?
>
> Thanks,
>
> --SF
>
Engram
May 31st 06, 11:51 PM
Also, have a read of this PDF which is a review of NT and contains
recommendations of the assessment committee.
http://www.msac.gov.au/pdfs/reports/msacref04.pdf
I haven't read it (153 pages! not exactly light morning reading) but you may
find it useful. It's Australian, so you may need to look for other info
closer to home, as well...
Jamie Clark
June 1st 06, 12:02 AM
wrote:
> Hello, Group:
>
> Yesterday, on Friday my Wife had NT scan performed. The results were
> very concerning. The doctor called us with the new that our baby
> might have Down Syndrome, since the Neck fold measured at 5.9 mm.
>
> Profile:
>
> My wife is 26 with no history of Down Syndrome and I'm 28. My wife is
> now in her 21st week of pregnancy. The blood test came back normal
> that were used to test for Down Syndrome.
>
> I would like to know if the baby's neck normally grows larger as the
> baby grows through pregnancy?
>
> Thanks,
>
> --SF
The real issue here is that you are past the appropriate time for this test.
Because this test is always done in the first trimester, we have an accurate
measurement to compare to. We know, for example, that at 11 weeks, the
nuchal fold should be 2.0, so if your baby measured 5.9 at 11 weeks, that
would be very bad indeed. But, since the test isn't considered accurate
past 14 weeks gestation, we have nothing to compare your baby's nuchal fold
measurement to.
Below are two quotes from Babycenter:
"NT scans are usually performed from 11 to 13 weeks + 6 days of pregnancy.
Before 11 weeks the scan is technically difficult because the baby is so
tiny and, after 14 weeks, excess fluid may be absorbed by the baby's
developing lymphatic system."
"An NT measurement of up to 2.0mm is normal at about 11 weeks, and up to
about 2.8mm by 13 weeks and 6 days. This is because the NT normally grows in
proportion to the growth of the baby (Nicolaides et al 1999)
From "Second-Trimester Ultrasound to Detect Fetuses With Down Syndrome"
http://jama.ama-assn.org/cgi/content/abstract/285/8/1044
"Conclusions A thickened nuchal fold in the second trimester may be useful
in distinguishing unaffected fetuses from those with Down syndrome, but the
overall sensitivity of this finding is too low for it to be a practical
screening test for Down syndrome. When observed without associated
structural malformations, the remaining ultrasonographic markers could not
discriminate well between unaffected fetuses and those with Down syndrome.
Using these markers as a basis for deciding to offer amniocentesis will
result in more fetal losses than cases of Down syndrome detected, and will
lead to a decrease in the prenatal detection of fetuses with Down syndrome.
"
Were there any other indications of anything being wrong? Any other signs
on the u/s? Short femur, echogenic bowel, echogenic foci in the ventricles
of the heart,choroid plexus cysts, etc?
The only way to know for sure is an amnio, but unless your doctors saw any
other possible soft markers, I don't know that I'd recommend it, especially
with your wife's age. That all being said, I have a friend who had a baby
with DS when she was 28. There were no markers, and no family history.
Sometimes this just happens.
Good luck with whatever you decide.
--
Jamie
Earth Angels:
Taylor Marlys, 1/3/03
Addison Grace, 9/30/04
Check out the family! -- www.MyFamily.com, User ID: Clarkguest1,
Password: Guest Become a member for free - go to Add Member to set up
your own User ID and Password
Jamie Clark > writes:
: "Conclusions A thickened nuchal fold in the second trimester may be useful
: in distinguishing unaffected fetuses from those with Down syndrome, but the
: overall sensitivity of this finding is too low for it to be a practical
: screening test for Down syndrome. When observed without associated
: structural malformations, the remaining ultrasonographic markers could not
: discriminate well between unaffected fetuses and those with Down syndrome.
: Using these markers as a basis for deciding to offer amniocentesis will
: result in more fetal losses than cases of Down syndrome detected, and will
: lead to a decrease in the prenatal detection of fetuses with Down syndrome.
: "
SF,
I think this section quoted by Jamie is what you should focus on.
The way I read it, you should NOT follow up with an amnio unless
you note additional soft markers. Without the increased risk
indicated by additional soft markers, the risk of miscarriage
from the amino is to high to justify the risk of the procedure,
given the low specificity of the NT scan.
Larry
Hello, I'm trying not to go crazy with the wealth of information on the
Internet, which I have a big problem deciphering as accurate or
inaccurate.
I have a lot of unanswered questions now for the Doctor. We had an
ultrasound at week 10, but they never mentioned anything abnormal.
Unfortantely, we had an intern do the measurements, and on Monday,
we were told they didn't complete the measurements because everybody
left early for the holiday, very upsetting, since I had no idea the
importance of this ultrasound.
Friday, we should now for almost certain with another ultrasound
doing the measurements, and if necessary, they'll do an amniocentesis
test for any abnormalilities.
Another note, my wife has another very healthy 1-year old.
Much Regards,
--SF
Jamie Clark wrote:
> wrote:
> > Hello, Group:
> >
> > Yesterday, on Friday my Wife had NT scan performed. The results were
> > very concerning. The doctor called us with the new that our baby
> > might have Down Syndrome, since the Neck fold measured at 5.9 mm.
> >
> > Profile:
> >
> > My wife is 26 with no history of Down Syndrome and I'm 28. My wife is
> > now in her 21st week of pregnancy. The blood test came back normal
> > that were used to test for Down S yndrome.
> >
> > I would like to know if the baby's neck normally grows larger as the
> > baby grows through pregnancy?
> >
> > Thanks,
> >
> > --SF
>
> The real issue here is that you are past the appropriate time for this test.
> Because this test is always done in the first trimester, we have an accurate
> measurement to compare to. We know, for example, that at 11 weeks, the
> nuchal fold should be 2.0, so if your baby measured 5.9 at 11 weeks, that
> would be very bad indeed. But, since the test isn't considered accurate
> past 14 weeks gestation, we have nothing to compare your baby's nuchal fold
> measurement to.
>
> Below are two quotes from Babycenter:
> "NT scans are usually performed from 11 to 13 weeks + 6 days of pregnancy.
> Before 11 weeks the scan is technically difficult because the baby is so
> tiny and, after 14 weeks, excess fluid may be absorbed by the baby's
> developing lymphatic system."
>
> "An NT measurement of up to 2.0mm is normal at about 11 weeks, and up to
> about 2.8mm by 13 weeks and 6 days. This is because the NT normally grows in
> proportion to the growth of the baby (Nicolaides et al 1999)
>
> From "Second-Trimester Ultrasound to Detect Fetuses With Down Syndrome"
> http://jama.ama-assn.org/cgi/content/abstract/285/8/1044
>
> "Conclusions A thickened nuchal fold in the second trimester may be useful
> in distinguishing unaffected fetuses from those with Down syndrome, but the
> overall sensitivity of this finding is too low for it to be a practical
> screening test for Down syndrome. When observed without associated
> structural malformations, the remaining ultrasonographic markers could not
> discriminate well between unaffected fetuses and those with Down syndrome.
> Using these markers as a basis for deciding to offer amniocentesis will
> result in more fetal losses than cases of Down syndrome detected, and will
> lead to a decrease in the prenatal detection of fetuses with Down syndrome.
> "
>
> Were there any other indications of anything being wrong? Any other signs
> on the u/s? Short femur, echogenic bowel, echogenic foci in the ventricles
> of the heart,choroid plexus cysts, etc?
>
> The only way to know for sure is an amnio, but unless your doctors saw any
> other possible soft markers, I don't know that I'd recommend it, especially
> with your wife's age. That all being said, I have a friend who had a baby
> with DS when she was 28. There were no markers, and no family history.
> Sometimes this just happens.
>
> Good luck with whatever you decide.
> --
>
> Jamie
> Earth Angels:
> Taylor Marlys, 1/3/03
> Addison Grace, 9/30/04
>
> Check out the family! -- www.MyFamily.com, User ID: Clarkguest1,
> Password: Guest Become a member for free - go to Add Member to set up
> your own User ID and Password
If it can make you feel any better, my baby's nuchal fold at 19 weeks was 7
mm. We then had the amnio and everything checked out fine.
From what the genetician said, the baby's neck will not be "larger", but the
skin might be thicker. That would not be something visible (like a short
neck or a "thick neck"). It's just thicker skin. In most cases, however,
the skin gets back to a normal thickness before birth, or a couple years
after that.
Nuchal fold measurement at this stage of the pregnancy is not as accurate as
early on to detect DS (which is the thing I worried, more than my baby
having a thick neck), but still... I did go for the amnio.
Good luck,
--
Isabelle
Mlle C 2004-11-27
Guillaume EDD 2006-06-07 or 2006-05-31
> wrote in message
oups.com...
> Hello, Group:
>
> Yesterday, on Friday my Wife had NT scan performed. The results were
> very concerning. The doctor called us with the new that our baby might
> have Down Syndrome, since the Neck fold measured at 5.9 mm.
>
> Profile:
>
> My wife is 26 with no history of Down Syndrome and I'm 28. My wife is
> now in her 21st week of pregnancy. The blood test came back normal
> that were used to test for Down Syndrome.
>
> I would like to know if the baby's neck normally grows larger as the
> baby grows through pregnancy?
>
> Thanks,
>
> --SF
>
Pologirl
June 1st 06, 05:55 PM
wrote:
> Hello, I'm trying not to go crazy with the wealth of information on the
> Internet, which I have a big problem deciphering as accurate or
> inaccurate.
Then do yourself a favor and don't do research on the Internet. Go to
a library and the read books there. Preferably a university library or
major public library; they will have more technical books.
Given the ages of your wife and yourself, it is very unlikely your baby
has any chromosome count errors. But it is still possible. If it is
important for you to find out now rather than later, request
amniocentesis with karyotyping.
For what it's worth, in my 3 pregnancies to date I have never bothered
with the NT measurement during an ultrasound. Partly because I never
had an ultrasound during the ideal window for doing the NT measurement.
Also because it is a screening test. A screening test is (a)
relatively cheap and safe but (b) also relatively inaccurate. As a
rule, I decline screening tests. I either don't test at all, or I go
for the definitive test. In your case, that would be amniocentesis
with karyotyping. Amniocentesis is simply drawing of amniotic fluid.
Numerous tests can be performed on the fluid, among them karyotyping.
Karyotyping is a cursory examination of each pair of chromosomes.
Try not to panic. At this point, apart from the alarming report from
the clinic, all the information you have related to us indicates that
your baby is normal.
> wrote in message
oups.com...
> Hello, Group:
>
> Yesterday, on Friday my Wife had NT scan performed. The results were
> very concerning. The doctor called us with the new that our baby might
> have Down Syndrome, since the Neck fold measured at 5.9 mm.
>
> Profile:
>
> My wife is 26 with no history of Down Syndrome and I'm 28. My wife is
> now in her 21st week of pregnancy. The blood test came back normal
> that were used to test for Down Syndrome.
>
> I would like to know if the baby's neck normally grows larger as the
> baby grows through pregnancy?
>
> Thanks,
>
> --SF
Sometimes, having a wealth of information about what could possibly go wrong
or what one condition or one reading means can be a problem. It's easy to
scare yourself to death by surfing the internet for things which might be
associated with a particular condition. Trust me, I did.
My wife and I had our first child this past March. A 12-week ultrasound
looked great. At 20 weeks, my son was diagnosed with duodenal atresia,
which is basically a blockage in the GI tract. Depending on which numbers
you are looking at, 1 out of every 2 or 3 babies with duodenal atresia also
has Downs. So, despite decent blood tests, we were really concerned. We
had an amnio, just to prepare ourselves in any event. With the amnio, our
doctors also were able to perform a FISH (fluorescence in situ hybridization
tests) which gives reasonably reliable data on the most prominent
chromosomal issues within about 72 hours, rather than the 10-14 days for a
full amnio. The results all came back negative and we were able to put our
minds at ease. And I stopped worrying so much about all the other possible
things that could possibly, somehow go wrong. Our boy had a surgical
procedure after birth, came home in a lottle more than a week, and is
beautiful, healthy, and very happy (except for the heat and humidity we're
having right now)
I would assume that by "blood test" you are referring to basic screening
which says the chance of Downs is 1 in XXXX, rather than an amnio. Although
there is a risk of miscarriage with an amnio (1/100 or so if I remember
correctly), if you have a marker for Downs, it can be a way of either
putting your mind at ease or to plan properly for whatever the circumstances
are. There is never a guarantee that everything will be perfect or that
things will turn out exactly as you expect, but they just might, and the
reading may turn out to be not as big of a deal as you fear right now. As
one of the other posters mentioned, try not to panic. You both have to be
healthy for your new arrival. Good luck with everything.
Good News! The baby's new measurement at 22 weeks is 3.9, and actually
at 10 weeks was 1.2. The hospital people figured that the measurements
of 5.9 at 21 weeks was probably a miscalculation. Although it's still
possible the baby could come out with defects, I'm not any more worried
then I would've been before the second ultra sound.
Thank you group for your knowledge and support, it really helped!
Much Regards,
--SF
wrote:
> Jamie Clark > writes:
>
> : "Conclusions A thickened nuchal fold in the second trimester may be useful
> : in distinguishing unaffected fetuses from those with Down syndrome, but the
> : overall sensitivity of this finding is too low for it to be a practical
> : screening test for Down syndrome. When observed without associated
> : structural malformations, the remaining ultrasonographic markers could not
> : discriminate well between unaffected fetuses and those with Down syndrome.
> : Using these markers as a basis for deciding to offer amniocentesis will
> : result in more fetal losses than cases of Down syndrome detected, and will
> : lead to a decrease in the prenatal detection of fetuses with Down syndrome.
> : "
>
> SF,
>
> I think this section quoted by Jamie is what you should focus on.
> The way I read it, you should NOT follow up with an amnio unless
> you note additional soft markers. Without the increased risk
> indicated by additional soft markers, the risk of miscarriage
> from the amino is to high to justify the risk of the procedure,
> given the low specificity of the NT scan.
>
> Larry
Thanks for relaying on the good news.
Good luck,
Larry
> writes:
: Good News! The baby's new measurement at 22 weeks is 3.9, and actually
: at 10 weeks was 1.2. The hospital people figured that the measurements
: of 5.9 at 21 weeks was probably a miscalculation. Although it's still
: possible the baby could come out with defects, I'm not any more worried
: then I would've been before the second ultra sound.
: Thank you group for your knowledge and support, it really helped!
: Much Regards,
: --SF
: wrote:
:> Jamie Clark > writes:
:>
:> : "Conclusions A thickened nuchal fold in the second trimester may be useful
:> : in distinguishing unaffected fetuses from those with Down syndrome, but the
:> : overall sensitivity of this finding is too low for it to be a practical
:> : screening test for Down syndrome. When observed without associated
:> : structural malformations, the remaining ultrasonographic markers could not
:> : discriminate well between unaffected fetuses and those with Down syndrome.
:> : Using these markers as a basis for deciding to offer amniocentesis will
:> : result in more fetal losses than cases of Down syndrome detected, and will
:> : lead to a decrease in the prenatal detection of fetuses with Down syndrome.
:> : "
:>
:> SF,
:>
:> I think this section quoted by Jamie is what you should focus on.
:> The way I read it, you should NOT follow up with an amnio unless
:> you note additional soft markers. Without the increased risk
:> indicated by additional soft markers, the risk of miscarriage
:> from the amino is to high to justify the risk of the procedure,
:> given the low specificity of the NT scan.
:>
:> Larry
alath
June 3rd 06, 04:19 PM
> The real issue here is that you are past the appropriate time for this test.
Not necessarily. In addition to the nuchal skin translucency test,
which is commonly done in the first trimester, there is also a nuchal
skin fold measurement that is done in the second trimester. An
increased measurement in this area is also associated with trisomy 21.
These two tests are often confused.
If the original poster had a nuchal measurement done at 21 weeks that
was reported as a marker for Down syndrome, it must have been the
nuchal skin fold. The nuchal skin fold measurement can be technically
difficult depending on fetal position. This is probably why the test
was repeated and turned out normal the second time. If the thickening
goes away with a fetal position change, then it isn't a "real"
thickened nuchal skin fold and has no clinical significance.
alath
June 3rd 06, 08:53 PM
> Not necessarily. In addition to the nuchal skin translucency test,
Whoops; typo, and one that illustrates the confusion. The above should
read 'nuchal translucency' without the word 'skin.'
"alath" > wrote in message
ups.com...
>
>> The real issue here is that you are past the appropriate time for this
>> test.
>
> Not necessarily. In addition to the nuchal skin translucency test,
> which is commonly done in the first trimester, there is also a nuchal
> skin fold measurement that is done in the second trimester. An
> increased measurement in this area is also associated with trisomy 21.
> These two tests are often confused.
>
> If the original poster had a nuchal measurement done at 21 weeks that
> was reported as a marker for Down syndrome, it must have been the
> nuchal skin fold. The nuchal skin fold measurement can be technically
> difficult depending on fetal position. This is probably why the test
> was repeated and turned out normal the second time. If the thickening
> goes away with a fetal position change, then it isn't a "real"
> thickened nuchal skin fold and has no clinical significance.
>
I wish they'd have done a re-test in my case; it would have been
reassuring...
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