nuchal fold in 20 week ultrasound causing distress

I recently had my ultrasound at 19 weeks and 6 days. The baby's
maeasurements indicated that he was bigger than the gestational estimated
date that was calculted. My doctor told me the baby was measuring at 20
weeks and 5 days. Everything was normal, i.e. his limbs, spine, brain and
heart. My quad test which was done at 16 and a half weeks came back
negative as well (normal). However the doctor noted that there was one
abnormality in the ultrasound and that was a nuchal fold found at the back
of my baby's head which measured much bigger than it should for a 19 week
and 6 day old baby! She said this could be a marker for a downs baby. She
offered us the option of an amniosynthesis and even abortion at a later
part if we choose to. I was apalled and very much distressed. I told her
that my quad test results were good and that there was no history of downs
in my or my husband's family. She told me that chances of me having a
downs baby was 1 out of 47. They want me to come back for an ECG of my
baby's heart in 5 weeks which I am going to do. I even asked the doctor if
the measurement of the nuchal fold was bigger because the baby was much
bigger than the calculated due date.She said that the measuremnt would
have not mattered had the baby been 20 weeks or more (as per his
measurements and not the previously calculated date of 19 weeks and 6
days).I cried when I came out of that doctor's office and having been
trying to stay positive. I console myself with the fact that the
ultrasound images look normal and my quad tests were negative. However I
am still so worried, I can't sleep and need advice on this topic.

k_raps73 wrote:
I recently had my ultrasound at 19 weeks and 6 days. The baby's
maeasurements indicated that he was bigger than the gestational estimated
date that was calculted. My doctor told me the baby was measuring at 20
weeks and 5 days. Everything was normal, i.e. his limbs, spine, brain and
heart. My quad test which was done at 16 and a half weeks came back
negative as well (normal). However the doctor noted that there was one
abnormality in the ultrasound and that was a nuchal fold found at the back
of my baby's head which measured much bigger than it should for a 19 week
and 6 day old baby! She said this could be a marker for a downs baby. She
offered us the option of an amniosynthesis and even abortion at a later
part if we choose to. I was apalled and very much distressed. I told her
that my quad test results were good and that there was no history of downs
in my or my husband's family. She told me that chances of me having a
downs baby was 1 out of 47. They want me to come back for an ECG of my
baby's heart in 5 weeks which I am going to do. I even asked the doctor if
the measurement of the nuchal fold was bigger because the baby was much
bigger than the calculated due date.She said that the measuremnt would
have not mattered had the baby been 20 weeks or more (as per his
measurements and not the previously calculated date of 19 weeks and 6
days).I cried when I came out of that doctor's office and having been
trying to stay positive. I console myself with the fact that the
ultrasound images look normal and my quad tests were negative. However I
am still so worried, I can't sleep and need advice on this topic.

Poor woman you must be frantic, especially given your doctor's callous
manner! I am certainly no expert but from my limited experience I am
quite sure that beyond 12 weeks (maybe something more like 11w5d)
nuchal fold measurements are NOT valid indicators of Down's Syndrome.
Seek a second opinion! It is the only thing that will put your mind at
rest. I'm sorry your situation was handled so poorly by your doctor

Good luck and take care
Elle

"k_raps73" wrote in message
lkaboutparenting.com...
I recently had my ultrasound at 19 weeks and 6 days. The baby's
maeasurements indicated that he was bigger than the gestational estimated
date that was calculted. My doctor told me the baby was measuring at 20
weeks and 5 days. Everything was normal, i.e. his limbs, spine, brain and
heart. My quad test which was done at 16 and a half weeks came back
negative as well (normal). However the doctor noted that there was one
abnormality in the ultrasound and that was a nuchal fold found at the back
of my baby's head which measured much bigger than it should for a 19 week
and 6 day old baby! She said this could be a marker for a downs baby.

It has always been my understanding that nuchal fold thickness has no
correlation to Downs after the end of the 14th week. I would question your
doctor very closely on this, since I believe she is incorrect.

She
offered us the option of an amniosynthesis and even abortion at a later
part if we choose to. I was apalled and very much distressed.

I understand. Of course you're distressed. While I question the accuracy of
her finding based on nuchal fold thickness at mid-pregnancy (when I believe
it is no longer of diagnostic value), you should know that what she was
offering you is pretty much "standard" when there is a suspicion of Down
Syndrome. Because amnio is the only definitive diagnostic tool, it's
appropriate to offer. And most people whose fetuses are prenatally diagnosed
with Downs ultimately choose to terminate the pregnancy.

I told her
that my quad test results were good and that there was no history of downs
in my or my husband's family.

Down Syndrome does not, as a general rule, run in families. (I think there
is one type that does, but it is an exceedingly rare form.) Down Syndrome is
a congenital replication error that results in the fetus having three copies
of chromosome 21 instead of the standard two. Therefore, the fact that there
is no familial history of Downs in your families does not affect the
likelihood of its occuring in your own child.

She told me that chances of me having a
downs baby was 1 out of 47. They want me to come back for an ECG of my
baby's heart in 5 weeks which I am going to do. I even asked the doctor if
the measurement of the nuchal fold was bigger because the baby was much
bigger than the calculated due date.She said that the measuremnt would
have not mattered had the baby been 20 weeks or more (as per his
measurements and not the previously calculated date of 19 weeks and 6
days).I cried when I came out of that doctor's office and having been
trying to stay positive. I console myself with the fact that the
ultrasound images look normal and my quad tests were negative. However I
am still so worried, I can't sleep and need advice on this topic.

Well, first of all, I'm incredibly suspicious of the risk calculation
provided by your doctor based solely on a nuchal scan at 19w6d. The face
that your quad screen was good makes me even more suspicious (since your
negative quad should be factored into any risk assessment). As Elle has
already suggested, I think you should seek a second opinion regarding the
nuchal scan measurement.

Even if the 1 in 47 number is correct (which I doubt) and sounds quite dire,
try to keep in mind that it still means there is nearly a 98% likelihood
that your baby does NOT have Downs.

Good luck and HTH!
--
Be well, Barbara

Circe wrote:

It has always been my understanding that nuchal fold thickness has no
correlation to Downs after the end of the 14th week. I would question
your doctor very closely on this, since I believe she is incorrect.

My current doctor, my doctor with Luke, and the specialist that did my Level
II ultrasound with Luke all said that nuchal fold thickness measurements
obtained in the second trimester (at 20wk ultrasound and I think my Level II
ultrasound was around 18wks IIRC) was used as a reliable indicator when
assessing the risk of down syndrome. I haven't done any research myself.

--
Nikki
Hunter 4/99
Luke 4/01
EDD 4/06

k_raps73 wrote:
She told me that chances of me having a downs baby
was 1 out of 47. They want me to come back for an ECG of my baby's
heart in 5 weeks which I am going to do. I even asked the doctor if
the measurement of the nuchal fold was bigger because the baby was
much bigger than the calculated due date.She said that the measuremnt
would have not mattered had the baby been 20 weeks or more (as per
his measurements and not the previously calculated date of 19 weeks
and 6 days).I cried when I came out of that doctor's office and
having been trying to stay positive. I console myself with the fact
that the ultrasound images look normal and my quad tests were
negative. However I am still so worried, I can't sleep and need
advice on this topic.

I don't have any great advice. I wish you luck and the chances are very
good that your baby is healthy and has the correct number of chromosomes in
the correct places!

Give some thought to the amnio. It is standard procedure to offer them to
any woman with a risk marker whether that is simply age or the results of
some test. I personally chose to decline the amnio when I was in a similar
situation and was then offered a Level II ultrasound which apparently gives
more detailed and accurate measurements. That was before my 20wk ultrasound
and was done after the quad screen. I don't know how much it would offer
you but I would certainly speak to the doctor about it.

Keep us posted.

--
Nikki
Hunter 4/99
Luke 4/01
EDD 4/06

It has always been my understanding that nuchal fold thickness has no
correlation to Downs after the end of the 14th week. I would question your
doctor very closely on this, since I believe she is incorrect.

You are thinking of the nuchal lucency test. The nuchal skin fold
measurement is appropriate at 19-20 weeks.

Thank you to all who posted a reply to my source of distress. Already I
feel a little better. A few hours ago I actually called this doctor to
question her further but she was with patients and I am still awaiting her
call. I would like to have a level 3 genetic ultrasound screening done,
besides just the ECG, that is if this army hospital offers it. What I find
contadictary was her reply related to me by one of the staff at the labor
ward which is that even if I did have a 2nd ultrasound done next week
(where i would be over 20 weeks ) it did not affect the thickness of the
nuchal fold! This does not make any sense at all since she herself had
told both my husband and myself that the neuchal fold would not even have
been measured or considered an abnormality after the 20th week! I think
this doctor needs to get her facts straight cos she can cause most first
time mommies like me so much grief! Also,my husband, who is with the army
was elated when he found out we wee having a boy, only to be upset by that
piece of news! Please all...keep your fingers crossed and say a prayer
for our baby (we plan to name him Jonathan Emmanuel) and me (for my
sanity). Thanks!

"k_raps73" wrote in message
lkaboutparenting.com...
I recently had my ultrasound at 19 weeks and 6 days. The baby's
maeasurements indicated that he was bigger than the gestational estimated
date that was calculted. My doctor told me the baby was measuring at 20
weeks and 5 days. Everything was normal, i.e. his limbs, spine, brain and
heart. My quad test which was done at 16 and a half weeks came back
negative as well (normal). However the doctor noted that there was one
abnormality in the ultrasound and that was a nuchal fold found at the back
of my baby's head which measured much bigger than it should for a 19 week
and 6 day old baby! She said this could be a marker for a downs baby. She
offered us the option of an amniosynthesis and even abortion at a later
part if we choose to. I was apalled and very much distressed. I told her
that my quad test results were good and that there was no history of downs
in my or my husband's family. She told me that chances of me having a
downs baby was 1 out of 47. They want me to come back for an ECG of my
baby's heart in 5 weeks which I am going to do. I even asked the doctor if
the measurement of the nuchal fold was bigger because the baby was much
bigger than the calculated due date.She said that the measuremnt would
have not mattered had the baby been 20 weeks or more (as per his
measurements and not the previously calculated date of 19 weeks and 6
days).I cried when I came out of that doctor's office and having been
trying to stay positive. I console myself with the fact that the
ultrasound images look normal and my quad tests were negative. However I
am still so worried, I can't sleep and need advice on this topic.


Well, nuchal fold thickness is a soft marker in the second trimester
(meaning that it's not a strong indicator, but can be a warning sign and
reason to offer further testing). I find it interesting that she told you
the measurement "wouldn't have mattered" if the baby was 20+ weeks. I'm
thinking that she meant that it was a normal measurement for his size of
20w5d, but a high measurement for his gestational age of 19w6d. So, the
question then becomes...how sure are you of the 19w6d age? Is it possible
that you are really 20w5d along?
Unless you were charting ovulation I'm not sure you would know unless you
had a first trimester dating ultrasound. So, there's a possible
explanation....you're just further along than you thought and his size and
nuchal fold measurements match up.
However, if his nuchal fold is still high, offering amnio is a typical
response. The risk figure of 1/47, is that based solely on the nuchal fold
thickness or is it a combined risk that takes into account your quad screen?
Maternal age, quad screen and ultrasound markers can be combined to give a
revised risk. Remember that the quad screen is just that, a screening test.
While it's good that it was "negative", it doesn't mean that the ultrasound
results don't matter. Chances are (at least 46/47) that the baby does not
have Down syndrome. After you have the echo, you should get a new set of
risk figures, and only you can decide if you need to know for sure and what
you would do with that information.
BTW, a negative family history is irrelevant in calculating Down syndrome
risk, as almost all cases of trisomy 21 are not inherited.
So, give some thought to the possibility that you are just 20w5d along and
all the measurements are normal for that gestational age.

Amy

"k_raps73" wrote in message
lkaboutparenting.com...
I recently had my ultrasound at 19 weeks and 6 days. The baby's
maeasurements indicated that he was bigger than the gestational estimated
date that was calculted. My doctor told me the baby was measuring at 20
weeks and 5 days. Everything was normal, i.e. his limbs, spine, brain and
heart. My quad test which was done at 16 and a half weeks came back
negative as well (normal). However the doctor noted that there was one
abnormality in the ultrasound and that was a nuchal fold found at the back
of my baby's head which measured much bigger than it should for a 19 week
and 6 day old baby! She said this could be a marker for a downs baby. She
offered us the option of an amniosynthesis and even abortion at a later
part if we choose to. I was apalled and very much distressed. I told her
that my quad test results were good and that there was no history of downs
in my or my husband's family. She told me that chances of me having a
downs baby was 1 out of 47. They want me to come back for an ECG of my
baby's heart in 5 weeks which I am going to do. I even asked the doctor if
the measurement of the nuchal fold was bigger because the baby was much
bigger than the calculated due date.She said that the measuremnt would
have not mattered had the baby been 20 weeks or more (as per his
measurements and not the previously calculated date of 19 weeks and 6
days).I cried when I came out of that doctor's office and having been
trying to stay positive. I console myself with the fact that the
ultrasound images look normal and my quad tests were negative. However I
am still so worried, I can't sleep and need advice on this topic.


As the mother of a child with Down syndrome, I can tell you that from
talking with my friends who also have babies with Down syndrome that they
almost always ran small for gestational age so the fact that your baby is
measuring larger than gestational age is a good sign.

I can also tell you that nuchal translucency is *not* as reliable an
indicator as they'd have you believe, because I have a friend who relied on
it in her 3rd pregnancy (her 2nd child has Down syndrome) and her 3rd also
had Down syndrome after being told all along that the nuchal fold
measurement was fine as were all the subsequent monitoring ultrasounds (she
was part of a study to determine how effective these procedures were as an
indication, not very).

Thirdly, don't bother with the ECG. I had one during my 2nd pregnancy
because I had gestational diabetes (2nd time) and it can increase the
likelihood of heart defects. I was having twins and both twins showed no
signs of heart defects when they did the ECG. My duaghter with Down
syndrome was born with 3 holes in her heart -- tiny ones, but ones that we
were told they had looked for and told us didn't exist.

Lastly, I can tell you that my daughter has brought us much joy and many
wonderful people into our lives. I can't say her brothers would agree with
that; she's just an annoying sister to them, Down syndrome or not. ;-)

Leigh in raLeigh

Thirdly, don't bother with the ECG. I had one during my 2nd pregnancy
because I had gestational diabetes (2nd time) and it can increase the
likelihood of heart defects. I was having twins and both twins showed no
signs of heart defects when they did the ECG. My duaghter with Down
syndrome was born with 3 holes in her heart -- tiny ones, but ones that we
were told they had looked for and told us didn't exist.

Ultrasound fetal heart study is not a perfect technology, and I'm sorry
you learned that the hard way, but that doesn't mean it's totally
useless. It is very hard to detect heart defects, especially very small
ones. But often we are able to detect heart defects, and sometimes
those results can have life-saving implications in the newborn's care.