Nuchal Translucency Ultrasound
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Last year I had a miscarriage (no heartbeat at 8 week
confirmation appointment; chromosomal analysis of fetus
after D&C showed two extra chromosomes -- chromosome 15
which caused the baby to not be viable and chromosome 21 --
Downs). Now I am 41 and 12 weeks pregnant. We had our
Nuchal ultrasound today. Combined with the blood test, we
got a 'pass' and a ratio of 1 chance in 1900 of the baby
having the Down's. However from reading the paperwork, the
blood test and Nuchal ultrasound only detects 80% of Down's
babies. Because of the miscarriage last year, I am thinking
of having an amnio at 16 weeks. Anyone decide to do this?
Or anyone find out from an 18 weeek ultrasound that their
baby had other markers indicative of Downs? The nurse
practioner at our OBs office told us that recent analysis by
some official obstetrics group/board--forgot what she
said--puts the risk of miscarriage from an amnio (not CVS)
at 1 in 1600. Thank you all!
Hi, this is a tough decision but your NT numbers are
actually pretty good. For my first pregnancy at 39, I had
good NT numbers and did not have amnio. However, for my
second at 41, I just went right to the amnio. I was nervous,
but I think that it's better peace of mind. The worst thing
tho, is that if there is something wrong, making a decision
to terminate would be extremely tough so you need to
consider that. I do believe that amnio miscarriage risks are
slim, especially if your testing site has a lot of
experience doing them. The test was a lot less of an issue
once I had it. In my mind, waiting for it was much worse.
If I were you, I'd get amnio.
Why don't you have your 2nd T blood drawn right at 15
weeks - you'll have the results of an integrated risk
assessment (1st T + Nuchal + 2nd T blood draw) within the
week, and the detection rate for Down syndrome and Trisomy
18 is much better than for the 1st T + NT alone. Then you
can make your decision about the amnio with better
More information is better..
can't relate to your situation exactly with your prior
history but I can tell you at age 39 I got a positive result
on my nuchal test and still skipped the amnio (basically my
risk per the positive nuchal result was about the same risk
as my risk of a miscarriage with an amnio so I figured why
double my risk). depends on how much certainty you need but
if you want certainty then do the amnio and take the risk. 1
in 1900 odds are very low for a 41 year old - your age
related risk is probably in the 1/200 range (if you did no
testing that would be your best information). Not to scare
you but to give you some perspective there are so many
things that can go wrong that you have way higher odds than
1 in 1900 on (autism, stillbirth etc etc) but because you
can't test for these now they tend not to get the same
attention that something you can test on.
I'm a numbers person so ultimately I was really able to look
at the statistics for what they were and in the grand scheme
of things was able to roll with the risk just like all the
other risks we face in life, that we don't always get a
chance to test for. But I also knew I probably wouldn't
abort so for me it was just swapping risk for knowledge. BTW
my daughter was born with no issues.
Good luck with your decision.
a numbers person
The first trimester screen (nuchal translucency ultrasound
plus blood test) does not ''detect'' Down Syndrome at all. It
is a screening test, not a diagnostic test. It only tells
you your RISK for having a baby with Down Syndrome. In
order to know for sure whether your baby has Down Syndrome,
you must do a CVS or an amnio. Most people base this
decision on how strongly they feel the need to know, what
they would do with that information (i.e. terminate or
continue a pregnancy), and how willing they are to subject
themselves to the (very small) risks associated with CVS or
amnio. Given your risk profile from the nuchal translucency
ultrasound, it is very unlikely that your child has Down
Syndrome, but it is not impossible. The only way to know
for sure is to have CVS or amnio.
I had my children at ages 39 and 43. I knew that I wanted
to do diagnostic testing (CVS or amnio) because I wanted to
know with 100% certainty whether there were any chromosomal
abnormalities. I did the nuchal translucency test determine
which test (CVS or amnio) to do. If my nuchal results were
not reassuring (i.e. put me at high risk of having a baby
with Down Syndrome), I planned to do a CVS. My reasoning
was that CVS can be done much earlier than amnio, and I
preferred having the information sooner rather than later
since my choice would have been to terminate the pregnancy.
If the nuchal test was reassuring (i.e. put me at low risk
to have a baby with Down Syndrome), I planned to do the
amnio, which is done a bit later in pregnancy. As it turned
out, my risk was quite low, I did the amnios, and both kids
Some people might just skip the nuchal test if they already
know they want diagnostic testing. In my case and for
personal reasons, I preferred amnio to CVS, so I used the
nuchal to see whether my risk profile was really bad -- in
which case I would have gone ahead and done CVS.
Be aware that unfortunately there is no diagnostic test that
detects every possible thing that could go wrong with your
baby. Even CVS and amnio are limited in what they can
detect. You might want to have an appointment with a
genetic counselor who can explain more fully to you what
this all means and help you think through your choices.
As far as the risks associated with amnio and CVS, what you
need to know is the complications rate for the MD who is
actually doing YOUR amnio or CVS. Nationwide rates are much
less important than YOUR provider's rate of complications.
That's what you want to know.
Good luck to you!
After the experience you had lasst year, it is understandable that you are
really, really anxious about this baby. But given the tests you have
undergone, it also sounds like this baby is healthy. And the odds are
probably higher than 80 percent, since you are combining the odds from
two different procedures. Any reason why you haven't opted for CVS if
you want an early amnio?
When I was obsessing about this option myself, I asked myself a very
important question: what would I actually DO about the facts, assuming a
result that showed chromosomal abnormality? Would I have an abortion
at 16 or 18 weeks? What difference would knowing the results practically
make in my life and subsequent decisions? In my case, I was resolved
that I would not have an abortion, even if the baby had Downs, which
simplified the decision to, do I want to know or don't I? Would it be better
to know in order to prepare for caring for a special needs infant? In the
end, needing to know if I had a special needs infant did not prove a
strong-enough motivator, because I wanted to focus on the love that I
was developing for my developing baby, o matter what potential
Of course, I realize this is not necessarily the path you will take in your
decision making process, and no journey of this sort is a one-size-fits-all,
but I thought that it might be helpful to simply go through some of the
Good luck to you!
With my ''pregnancy age'' at 38 (I turned 38 halfway into my
pregnancy), I had the exact same debate. It was such a
I had the nuchal and got excellent results. So looking at
it that way, my odds of having a chromosomal issue with the
baby were less than my odds of having a miscarriage due to
an amnio or CVS.
However, the test is only 80% accurate. So that sort of
skews the odds.
In the end, I decided that I'd rather live with a baby that
would possibly have Down's Syndrome than live with myself if
I miscarried due to a test trying to make everything
perfect. No test gives you autism alerts, and of course any
child can have an accident or illness at some point that
makes him/her less than ''perfect.''
I also just had a gut feeling that this baby was going to be
A-OK (and she is). I though also had a medical scare that
ended up in a series of ultrasounds, so I figured that if
something were wrong they'd have found it on one of those
Anecdotally, I know of one couple who got great nuchal
results and had a child with Down's, and know two who had
horrible nuchal results, got the CVS and the babies were fine.
I however also know of 2 couples who lost babies due to an
The odds of miscarriage on amnio and CVS were just high
enough that I felt like my odds of having an OK baby were
better without them, but at the same time I certainly had my
moments during the pregnancy where I really worried that I
was in for a devastating surprise.
I don't know if this helps other than letting you know that
you're not alone in agonizing over this decision. If I have
another child (which would probably put me around 40) I'm
not convinced that I wouldn't do a CVS early on even with
good nuchal results. It's still a hard decision, even
new mom at 38
Hi, I also passed the nuchal ultrasound and the lab tests,
but the possibilities were 1/200, so I decided to have an
amnio at 17 weeks. I did it at Kaiser and they did a
wonderful job. The percentage of miscarriages after the
amnio is going down, and they say it is lower than
statistics say, because some of those would have ended on
miscarriage anyway, with or without an amnio. What I can
say is that after you do it and you know everything is OK,
you relax and enjoy the pregnancy a lot more. Good luck
with whatever you decide!!!
Risk of miscarriage from amniocentesis is 1/300 to 1/500 or
POSSIBLY less with more experienced practictioners. That
means that at least 1 in 500 women loose their child because
of having amnio - considering the odds of downs syndrome
according to your tests, how likely is it that your child is
entirely healthy? What will your course of action be if
your child is positive? Is knowing for certain worth the
risk of loosing a healthy child? Or the risk of loosing a
disabled child? How will you feel if you loose your child
after having the amnio? What is the risk that your child has
downs syndrome in comparison to the risk of having an amnio?
What are the odds in winning the lottery? What are the
odds in having a serious side effect from a vaccination? I
don't know what the best answer is, but it is important that
you make an informed decision and realize what the actual
odds are in these situations. People tend to make decisions
based on their determination to do what they want to do, not
on an actual understanding of the risks and benefits of
their actions. Only later do they justify it with vague
references to statistics or ''studies''. Not that this is
necessarily a bad thing, there is a reason why we have
instincts. If you do choose to go with your instincts, just
make sure you are listening to your instincts and don't
convince yourself it is okay against your better judgement
just because these responses and your doctor have led you to
misunderstand the actual risks involved.
Apparently there is no longer much risk of miscarriage
after amnio, if any. There have been recent studies that
show that you are no more likely to miscarry after an amnio
than if you didn't get an amnio at all. So don't base your
decision on decades-old numbers like 1 in 200 or 1 in 500.
Here is one article about this that I found by googling,
which quotes the findings in a 2006 study: "There was no
significant difference in loss rates between those undergoing
amniocentesis and those not undergoing amniocentesis."
The NT ultrasound plus the two blood tests are a little more than 90%
accurate. Yes new stats are out that there are less miscarriages but amnio
is still not a procedure to take lightly. There is risk they could puncture
and injure the baby while inserting the needle during the procedure. Yes
the procedure is less risky than when dr's first started performing the
procedure but there is still a risk. You are also left with a hole in your
womb after the procedure. You are not allowed to move or lift anything for
at least three days. If you do not strictly adhere to this your risk goes up.
Remember having a baby is a business so weigh your options very
carefully. Nothing invasive is safe when you are the one in 1200. I'm not
saying dont have the amnio I'm just saying don't take it lightly no matter
what the stats. Really watch ''the business of being born'' it will make you
very wary and hopefully proactive through your pregnancy and delivery.
The results from my nuchal translucency say that I am carrying
a baby with a 1/47 chance of Down syndrome. I'm having an
amnio in 3 weeks that will give me a definitive answer, but I'm
so sad and I'm not sure how I will make it through the wait.
Has anyone out there had this experience and do you have advice
on how I can stay positive while remaining realistic? Also,
has anyone had the result where they were carrying a baby with
DS and how you made the decision on what to do? Any
help/advice would be appreciated.
For now, I say REALLY focus on the fact that the chance is only
2% that your baby has Downs! And, breathe. That said, the wait
is torturous - and the wait for the Amnio results will add at
least two more weeks. So, truly focus on the positive. Truly.
Look inside yourself and find the strength to live and be happy
day to day with the baby you are carrying.
I don't have advice as to what to do if your baby does have
Downs. That's a very personal decision that only you and your
partner can truly make toghether. But, if possible, don't
play ''What if?'' now. Not yet. This is really hard, but I
marvelled at my husband's ability to convince me that we'd cross
that bridge when AND IF we needed to. We, in fact, did not need
to cross it. (We did, however, briefly discuss what we thought
our family could handle - only to see if we were on the same
page - even remotely.)
Best of luck to you. I know how you are suffering. Just keep
focussing on the positive, the likelihood, the percentages,
etc. They are on YOUR SIDE!!!
I'm so sorry to hear about your scary results. It hasn't
happened to me, so I can't say that I've been there, but I just
had a thought. You said the number they gave you was 1/47
chance of a child with Down Syndrome. The calculator in my head
tells me that if you convert that to a percentage, it's just
over a 2 percent chance. I'm not sure if that will help you or
not, but sometimes the numbers and statistics that we're given
are daunting if they're not explained fully. All the best to
numbers loving mommy
When I was pregnant with my daughter I was told I had a 1/150
chance of having a child with DS. It was hard on me but earlier
in the pregnancy I was told my child might have cystic fibrosis
because unbeknownst to me I am a carrier. Her father thankfully
was tested and was not but during that waiting period I made a
decision that I would continue the pregnancy regardless of the
results...which had he been positive would have been 1/2. So
later when they told me I may have a child with DS, or at least
was at higher risk I was already with the mind set of keeping the
baby regardless and I decided not to have an amnio. I think every
person needs to make their own decisions about tests and what to
do with the results....it is emotionally trying especial with all
the hormones of pregnancy. Good Luck.
P.S. My daughter was born perfectly healthy.
I am sorry you have to wait three weeks to find out what is
happening. I am sure you are going to get many responses from
women saying not to worry - unfortunatley I have been pregnant
twice (age 37) with babies with Down syndrome (no family
history). After doing research we ended both pregnancies. We
were pretty clear that the reason we were testing was because
we would end the pregnancies if something was found. One thing
you can do is get what are called ''FISH'' results from your
amnio. THese come back in a few days rather than the 10 or so
for the comlete results. As far as making a decision, I would
wait for your amnio.
I am so sorry that the test has caused more anxiety for you. I also had a NT test and
my results were also startling: I think they told me my baby had a 1 in 44 chance of
having Down Syndrome. We were especially sensitive to these results because we
had had two previous miscarriages, both of which were diagnosed after the fact as
babies with Down Syndrome (which is probably why they died in utero- fetuses with
DS often have hearts too weak to survive pregnancy). However, we decided to do
CVS and our baby boy turned out to have a normal genotype. It was a huge relief,
but deciding to risk the CVS and then waiting for the results was incredibly
As you’re waiting now, I guess I’d say two things. One is to remember what the
numbers really mean: for every 100 women and babies with the same
measurements or NT profile as you have now, 97-98 of them will *not* have DS.
That’s a huge, huge majority. It’s so scary when our “odds’ move in the wrong
direction from those based on age alone, but again—the numbers are less scary
when you think about what they actually mean.
Second, my husband and I did a lot of thinking about what we would do if our tests
came back positive for DS. Since they didn’t, we can’t say what our end decision
would have been, but it was really important for us to talk openly and honestly with
each other about our fears and our hopes, and what we wanted for our child and our
family. And it was also important for us to decide what we really felt, not what we
“should” be feeling. Amazingly enough, we became closer through the process, and
I gained some (tiny) measure of peace as I waited.
I also did a lot of writing/journaling about what it might mean to have a child who
was not the child I was expecting, who was different in unforeseen ways, about the
impact that might have on our family and our relationship, and what it might mean
to have that child or not have that child, and that writing process again helped me
come to terms with what I was feeling.
Best of luck to you. I’m looking at my son asleep in this stroller right now, and
remembering what a hard, hard time we had, and my heart goes out to you.
I can't say don't be nervous, because that would be
unrealistic. But, I do want to say that even if the test is
accurate, you are still looking at only a little more than 2%
chance that the baby has DS.
I had a NT screen at 37 years old(my son was born when I was
38). It was a very good result - about 1/1200 for DS. Then I
had the AFP, which gave me a high risk for DS (about the same as
your NT). So, I went ahead with the amnio, something I was
trying to avoid. All ended up fine and my baby was healthy.
While I think the AFP has a higher false positive rate, remember
that you are still only looking at a chance of 2%. Also, when I
had my amnio I paid an extra $250 that my insurance would not
cover, to get preliminary results in 48 hours. These results
included the DS information. If you can afford it, I highly
reccomend getting these preliminary results. It will either
give you a great sense of relief, or more time to make a
Hope this helps - my positive thoughts are with you.
I'm answering you as both, as a statistician and as a mother.
Statistician's voice: The way the ''nucal test'' is typically
conducted in medical practices in the US these days
is an unfortunate marriage between a relative reliable
and a very unprecise indicator. I can not see how these
two very different things can, even half-resonably, be
combined into one likelyhood:
(A) The measurement of the nucal fold taken during an
ultrasound. If the measurement is above a certain
threshold (2? if I remember well), this is a semi-quantitative
(but relatively reliable) indicator for Down syndrome.
(B) A measurement of the concentration of a hormones released
in pregnancy, and some other data. It has been observed that
the concentrations of this hormon develop slightly
differently when the fetus has Down syndrome (or other
chromosomal problems, or spina bifida). A deviation
from the typical curve can, but does not have to,
be caused by Down syndrome or one of the other diseases.
Unfortunately, the evaluation of the results is extremly
sensitive to the estimated time of conception. The latter
is estimated by the date of last period, or by ultrasound.
Both methods are not precise enough to ensure the
interpretation is even half reasonable.
I would encourage doctors to report their findings separately.
Every woman who chooses to do this test should be reported
the measurement from (A). She could then choose by herself
if she wants to put any confidence in part (B) or not.
In particular, if she already has reasons to belief that the
date of conception (the doctors will talk about ''due date''
for the birth, actually) was well estimated. For example,
if her cycle lengths are not the ''normal'' 28 days, if she's not
sure about her date of last period, or if the dates based on
the day of last period and the date based on ultrasound differ.
I actually talked to the statistician in charge of the Californian
program for screening for genetical diseases. He said that something
like three days off the correct date of conception can completely
falsivy the results. Doctors and their assistents usually do not even
know this, and go ahead to do a useless compution.
The results they report to the women are probabilities of
a precision that is misleading. I would like to see the
standard errors for their computations. It would not be
surprised to see: ''the probability your fetus has Down's is,
most likely, some number between 1/10 and 1/300''.
What are you making out of this information?
Mother's voice: Before I got pregant, I could do
the math for likelyhoods describe above, but I had no
idea in what context this information would land, and how
it could work against what we all mean or claim to want,
the health of mother and baby. Prenatal diagnostic is often
very stressful for pregnant women, and the communication
about the findings is often upsetting. Experiencing all
these worries and anxiety is not good for mother and baby
to be, I'm am sure it interferes with the mental and physical
health of both. Not drastically, I don't want to make anyone
panic here, but I belief we should make more effort to
create a feeling of safety for pregnant women rather
than reducing prenatal care to a battery of tests.
I don't mean to drop the tests all together, but to
be careful not to let them become the focus of your
pregnancy. (Good preparation for raising a child,
learning to take responsibility in not loosing your
optimistic attitude towards your child when one particular
thing is not working out as a childrearing book describes
it, or as a pre-school teacher would like it to.)
How can you relax and let the baby out in the world
during birth, if you feel that is has to be ''perfect'' to be
accepted by its fellow human beings? And even with 50 tests,
there's not garanty. For example, with a chance of 1%,
the child will become schizophrenic as a young adult.
Nobody is able to test for that in the womb.
On the other hand, let's be frank, many women these days
do not want to carry Down syndrome babies to term.
For that, they need a certainty that science, at this
point, can not deliver, except by more invasive methods
such that amnio, which in turn has some not very small
risks itself. On top of that, the amnio brings the
result a lot later, an abortion at that point is a more
traumatic and more invasive procedure than earlier on.
There is no simple answer to this.
All these thoughts above are the result of me going
through this kind of situation myself. I was and I am
going back and forth regarding my attitude to abortion
based on Down syndrome, both politically and personally.
and regardless on which side I am it's getting easily very
emotional, and seemingly incompatable. I did eventually
drop an appointment for an amnio I had already made.
I decided to trust the information from part (A) more than
the one from part (B). I had to chase the doctor down the hallway
to get him to tell me, in a grumpy tone, the actual measurement
he took, rather than the highly questionable summaries of (A), (B),
and a bunch of other data.
I do not know what I would have done if I had had other results in
part (A). I would not have taken the risk of doing an amnio without
begin more or less certain to terminate the pregnancy in case of
Down syndrome, and the answer to this I didn't find yet.
Just in those days, I met a women who did abord a child based
on a diagnosis of Down sysndrome in an amnio. 9 years later,
she was still traumatized. I walked into the hospital as a mother
of two, I walked out as a mother of one, she said. She didn't regret
her step, though, she added. However, she also didn't know what
she would say if she had decided to carry her baby to term.
I had a discussion with a genetic councelor.
It was a bit difficult to schedule with in my doctor's
practice, but it was worth every minute. The first
person who actually knew what these tests are all
about, willing to answer questions of any sort,
very nurturing, not biased in any way, very respectful,
and truly considering the individual case.
The one thing I can cleary recommend to you, is to
go for this consulting, with your husband (or a friend),
and give yourself time for decisions and comfort.
wow, your post sounds familiar and my heart goes out to you. when
i was pregnant with my second child last year they found
bilateral cysts on her brain in an ultrasound (tied to a higher
incidence of down syndrome) plus my afp came back with a down
syndrome indicator. the combination of these two things left me
devastated and just sucked the joy right out the pregancy. i had
to wait two weeks after the afp to get the amnio (and then
another week for the results) and i can't even describe how awful
those weeks were. My husband and I did a great deal of praying
and soul-searching in those weeks. Someone recommended to me an
essay about having a DS child that you may find helpful,
something about thinking you're taking a trip to Paris but
instead you wind up in Holland (the implication is that there are
still many things to love about Holland, but it's not what you
expected on your 'vacation').
Thank G-D my daughter was totally fine. I look at her now and am
so ashamed that I ever entertained the notion of ending the
pregnancy, but at one point in time that was what I thought I
needed to do. To this day I have no idea what I really would have
done had the amnio turned out differently.
Feel free to email me if you want to talk.
I am 35 and had a nuchal translucency US which much to
my surprise has come back ''positive,'' that is my
age-related risk for Down's is 1/215 and the test results
(size of nuchal fold and blood test) show my individual risk
is 1/213 !! It is a ''positive'' test because it did not come
back as showing a decreased risk for Down's (ie 1/400 etc).
These results show I have a .5% chance of a Down's baby
and a 99.5% chance of a normal baby. The risk of
miscarriage with an amnio done at 16 weeks is .5%...I am
not a gambling woman, and playing out the odds is driving
me crazy. What to do? The other thing is that I am
unfortunately not the type of person who would be fine with
having a baby with Down's, but almost equally, I would be
devastated to lose this pregnancy to an amnio that wasn't
I am 36 years old and I had an amnio done about a year ago. I
had some hesitation about it. There seems to be a huge deal made
about the risks. There is a half hour ''counseling'' before you
acutally get the amnio. And, I must say in all honesty....once
the whole thing was over I just did not know what all the fuss
was about. The people that do the test do it all day long and
are totally professional. You see your baby for the entire half
hour on the ultrasound monitor. The needle does not hurt. And,
if you follow the directions and stay mellow for the next three
days everything should be fine. It is like a pin prick in a
balloon. If you don't make the hole bigger.....it will heal
itself! Good luck! I had a positive experience!
I had an amnio or CVS for both of my kids (I was over 35 for
both) and they both turned out well and I gave birth to two
healthy babies. I recommend you find a doctor who does many
amnios (statistics show that doctors who perform a procedure
often, say several times a week at a minimum, have fewer
complications) and go for it! It did wonders for my peace of
mind. I couldn't imagine going through an entire pregnancy
wondering if my child had a birth defect, especially given my
overactive and fearful imagination during pregnancy.
Good luck and congratulations on your pregnancy.
mother of two
I have had 2 amnios...one at 36 and one at 39 with no problems or
complications. I have many friends who have also had them with
no problems. The important thing is to go to someone who
specializes in this procedure. The first amnio I had was done by
a practice which had (I think) a 1/500 risk of miscarriage (the
average risk is 1/200...0.5% as you said). His name is Dr.
McCallum and he practices on the peninsula and the east bay
I feel for you. I too was not the kind of woman that would be
fine with a downs baby. we elected to have a CVS (with each
pregnancy) so that we could be assured early on that everything
was going to be o.k. I did a lot of research on who was the best
at CVS testing, and ound that Dr. James Goldberg at California
Pacific Med. Center (also affiliated with UCSF) was the best and
had a much lower rate of miscarriage. You might try his practice
to see if they do amnio - if that is not an option I would find
out what the odds of miscarriage are at the practice where you
would be having the procedure. It sounds like you are the kind
of person that should go ahead with the amnio, just make sure you
are inthe best possible hands. I know that amnios can cause
miscarriage, but I have never known anyone who has had an amnio
induced miscarriage - and almost all of my friends and I are 35+
moms - good luck.
In your circumstances I would skip the amnio. At 99.5% your
chance of having a child without Downs Syndrome is very
very good, and the chance of test-related miscarriage is
There are other non-invasive tests your doctor can do that
would help you get a feel for whether your baby has other
''soft markers'' for Downs. You may also want to do Internet
research, or contact a message board like those on Parents
Place.com or IVillage.com. (These are valuable resources
Good luck, I think you're still in the range of your stress is
more of a problem than the statistics.
sounds like you need an amnio if you know you don't want to
raise a Down Syndrome child. The 1/200 chance sounds scary, but
you'll feel much better once you do it. It's not that bad, and
I also understand that the risk here in the bay area tends to be
even lower, because the doctors are really good. And from what
you're saying, it sounds like you could more easily tolerate a
risk of losing the pregnancy than the risk of delivering a Downs
baby. Knowing how clearly I and my partner couldn't do that
made that decision easier for me.
You will probably get some pretty strong responses to your
email. I have ended pregnancies due to amnio results telling
us we were having a baby with down syndrome. I have also found
docs (CPMC in SF and at UCSF) where the risk of miscarriage is
1/400. Some of the post-amnio miscarriages that happen are
babies that have chromosonal issues (such as down syndrome)
that would have ended even if there had been no amnio. A 1/213
chance is not really a ''positive'' - I know women who have truly
come close to having a positive on nuchal screen (1/5) that
later was confirmed by amnio. If you are clear about not
wanting a baby with down syndrome or any other chromosonal
abnormality, I would reccomend an amnio.
I don't know if this will help you, but . . . when I was
pregnant (I was 36 then), I knew I wanted an amnio, but was
confused about whether to have the preliminary testing,
precisely because of the conundrum you are experiencing now. I
dealt with the amnio question by asking my doctor: ''If I were
your daughter, what would you tell me to do?'' He said, ''Skip
the preliminary testing and just get the amnio.'' Which is what
I did and what I will do for my next pregnancy (God willing
there is another), when I will be 38 or 39. My feeling was that
I needed the certainty of the amnio results. I wasn't at all
sure, either, that I would terminate a Down Syndrome baby or a
baby with spina bifida or whatever, but I felt that having the
knowledge before the birth was worth the minimal risk presented
by the amnio. (Of course, you can use the statistics to support
any argument that works for you and everyone will tell you that
they know someone who miscarried following an amnio.) On the
other hand, my best friend, who is pregnant with her second baby
at 41, has always refused the amnio and can live with the
results of her preliminary testing. Good luck with your
decision; it's not an easy one!
Happy with my amnio
I had an amnio when I was pregnant with my first baby at 35 (and
a CVS with the second when I was 38). I had no complications
with either procedure and gave birth to big, healthy babies. We
decided to go ahead witht he amnio because I strongly felt the
need to be prepared if there was something 'wrong'.
Statistically, there was more of a chance of there being
something wrong with the pregnancy than of the amnio causing a
miscarriage. I also think that the stats you get regarding
anmio risks are national stats -- that if you go to a reputable
clinic with loads of experience, your chances are much better.
So, if you decide to move ahead with the procedure, make sure
you're going to a really 'good' place (and fight with your
insurance if they won't cover you going somewhere your OB
recommends). Ask how many procedures they do a year, how
experience the doctor is who will be doing the procedure, etc.
I had my amnio at AltaBates imaging, and the CVS at UCSF.
Good luck to you!
I was in a similar situation last fall. I don't remember the
exact details but my age alone gave me a .5% chance of
Down's Syndrom, however my NT test came back with better
odds than those for my age (36 at the time). Given that the
chance of miscarriage from Amnio was .5%, the NT had
improved my age-based genetic outlook, and my husband
and I did not have clear cut feelings about whether or not we
would terminate if the Amnio revealed that I was carrying a
baby w/Down's Syndrom, we decided not to have the
Amnio. I think it all comes down to what action you would
take if the Amnio were positive for Down's Syndrom. It
sounds like you would terminate. Also, remember that the
.5% chance of miscarriage from the Amnio is a national
average (or something like that, I believe) and the statistics
are better than that at UCSF or CPMC. I didn't ''know'' that I
would terminate, so I didn't have the test. I never regretted
that decision for a second.
Go with your gut on this.
At 35 I too struggled over whether to have an amnio, and was
terrified of having it induce a miscarriage because I had had 2
miscarriages already. After our in-depth discussion with the
genetics counselor, it was clear that the risk of something
being ''wrong'' was higher than the risk of miscarriage.
Therefore, the amnio made sense. Where did you get the
information that 1 in 200 amnios results in miscarriage? At
least at Alta Bates Perintal center, the rate is I think 1 in
400. So I would find out what the rates are at the center where
you might have the amnio. If it were me, I would have the
amnio. Also, it is overwhelmingly likely that everything will
be fine with your baby and then you can be relieved.
I had an amnio (by choice-I had just turned 40) recently and it
is really no big deal. I had mine at the same point in my
pregnancy too. The hardest part is waiting to hear the results.
In my case, I heard the results after 10 days and everything was
fine.The odds are in your favor that nothing will happen. Try to
relax and have faith. You will have access to more information
about your baby and this may give you even greater peace of mind.
I am sorry that you have have to make this tough decision. It's
not easy. I had to make this decision, too. But, I had taken
the AFP test which came back with a 1/180 risk (or .05%) of my
child having Trisomy 21. I decided to do the Amnio (even if the
risk of miscarriage was also 0.05%. I know it seems like such a
low risk (only .05%), but my amnio came back positive for
21, too. Though the AFP has a lot of ''false positives,'' it
pick up actual positives for even the lowest risks.
Ultimately, it's your decision. I would consider amnio record
of the hosptial at which you plan to deliver. Often times, the
hospital's record is lower than the average risk of miscarriage
caused by an amnio.
Be gentle with yourself and do what you need to do.
- another woman who understands
Well, this is a huge decision. I had my daughter at 40 and did
decide to do the amnio, however, it was one of the most
traumatic parts of my pregnancy. Ranking up there with my c-
section, even. I felt really nervous about the risk of
miscarraige as well, and it was truly scary for me to have the
needle in my uterus. All of that aside, it was truly relieving
to know that she was ok for the diseases that the amnio tests
for. My advice is to do it because you said that you do not
want to have a baby with downs and because you came up positive
on the nuchal fold test. That is what I would do.The other
thing is to get it done by a dr. who has done like 10 million
amnio's. That helped my stress to know that he had done tons.
Good luck and I'm sure that it will be fine, but I won't lie
cause it scared me silly,
I had an amniocentesis with my son, at the age of 37. I don't
think the results would have affected my decision about the
pregnancy, whether to continue it or not, but the knowledge that
everything was OK genetically was reassuring. When my son was
born, he had a facial birthmark (port wine stain)that enlisted
the services of a pediatric neurologist, pediatric opthamologist
and pediatric dermatolgist. So even having the amnio, other
things could go on with your child that can't be foreseen. If it
would be reassuring to you, I would recommend the amniocentesis.
I had a similar experience with my pregnancy last year. I was 34
at the time. I had the nuchal trans., but my ob said that my
risk of having a Down's baby was the same as my risk of having a
miscarriage w/amnio..this was based on the blood work. I chose
to have the amnio. The procedure went fine, and I got the
results quickly. I was thrilled to know that my baby was fine. I
am a worrier, so I would have spent the rest of my pregnancy in
total anxiety had I not known. Having a Down's baby would be too
much for us as my husband is older than I am, and we would have
no one to look after the child when we got older and passed
away. I have 2 friends (38 & 41) who each had amnios w/their
pregnancies. They are fine, and so are their babies.
Good luck to you.
needed to know
I also got pregnant at 35 and also had a NT that came back with
increased odds for a genetic problem. My OB's response was
that the NT test makes more people panic and get amnios than
need to, but my mom's sister had downs and I consequently had
very strong feelings about it. Even though I was worried about
the risks, I felt that it would be worth it.
I had my amnio at the CPMC genetic clinic in SF (the doctors
there are VERY good at what they do and their success rate is
higher than the national average). The results showed that our
little guy had another kind of genetic problem; he had an extra
X. We then had to make the hardest decision of our lives
(luckily the Bay Area has a great support network).
So....my recommendation is first, know that the odds are still
in your favor for everything to be OK. Then, if knowing that
your fetus has a genetic problem would change your future
actions (i.e. terminate or not, get special treatment or not),
I definitely recommend getting an amnio. If knowing would NOT
change your future actions, then it's probably not worth the
risk of an amnio.
*We did get pregnant again soon after and went straight for the
CVS instead of the NT & amnio route (and plan to do the CVS
again for our next pregnancy) and now have a happy little one.*
Of course no one can tell you what choice to make, but I did
notice from your post that you say that you would be almost or
nearly as bothered by losing the baby to miscarriage as by
having a DS baby. To me that was somewhat telling. And I
don't mean that in any kind of judgmental way. I would have
the amnio myself because I would want to know if the baby had
DS. Also, .5% is a very small risk. I have lots of friend who
have had amnios with no problem whatsoever. Anyway, I think
you should follow your heart, which YOU know best, but the way
I read your post, you seem to be leaning toward the amnio for
peace of mind. Good luck with your decision and hope you have
a healthy baby in there!
I had a 1:61 for Down Syndrome on the AFP (different from my
1:300 age-related risk). THere were also 2 soft markers on the
19 week u/s. After much hard debate, we decided on the amnio
(even though I wouldn't terminate based on the results- also a
tough decision- AND we were terrified of losing the baby- lost
one at 15 weeks last year). Our miscarriage risk was 1:400 or so
for my gestational age and the Dr. performing the amnio.
Well, the results came back totally normal today!. Am I happy I
had the amnio? Sort of. It's great not to worry about it anymore-
but I feel silly because the risk of having a baby with a
problem was so slim amyway.
Personally, with a 1:over 200 risk of Downs and that or more for
miscarriage, I wouldn't do it. But that's me.
It's such a hard choice. You have the answer inside.
i don't know if my long, convoluted story got posted, but i just
recently went through what you did, with my risk being at 1% -
twice the normal for my age (1/190). i'm kind of irritated i
took it, but in short, i think it did offer peace of mind for my
husband. philosophically, i don't know if i did the right thing
by taking a chance on losing my baby. it's such a hard decision.
find out how often the center you'll be going to does amnios.
this can dramatically decrease the risks of complications.
with your risks given, they are so low, and essentially equal to
the population, i fully support you not taking the amnio. i
think my husband played a large role in my decision - i think he
was a little more anxious than me.
feel free to e-mail me.
In this case I think the risk factor of miscarage is secondary.
I think that your position on not being comfortable with having
a Down's Syndrom child dictates that you MUST have the amnio
early since I'm assuming that you would then want to terminate
the pregnancy if it's positive. The longer you wait the harder
it is to do that, both medically and spiritually. For our first
child we didn't have the amnio since we decided that we would
accept a Down's syndrom child is that's what happened. But for
our second child we did do the amnio early so we could take
action early since we had our first child to consider as well as
I thought a lot myself about these questions (I was also 35);
The basic issue is your tolerance for risk. You have to weigh
the risk of losing a fetus due to the amnio (which is low)
versus the risk of carrying a fetus to term that might have
Downs or another chromosomal problem that could be detected
ahead of time. The decision also depends on how difficult it
was for you to get pregnant, and an unknown risk of the grief
of a pregnancy loss. HOWEVER, you have to weigh these possible
negative outcomes, which are TEMPORARY (for the most part),
compared to the risk for you of having to care for a child with
Downs for the rest of your life. You mentioned that you didn't
think you could handle this. Of course we end up handling
whatever we are handed, but the risks of miscarriage/amnio,
etc., are short-term, and the ''risk'' of having a child with
significant impairments has a much longer-term impact.
I think you're brave to acknowledge your own comfort level, and
I think if the possibility of having a child with downs (even
though it is STILL low at 1:213) is causing you significant
stress, then the amnio may really be worth it for your peace of
mind. This is particularly true if you didn't have much
trouble getting pregnant in the first place.
What a difficult decision you have on your hands. If you would
not be fine with a child that has Down's Syndrome, the amnio
then becomes a necessary procedure to give yourself peace of
mind. The one thing you don't want to do is to worry throughout
your pregnancy as to whether your child will have downs
syndrome. Don't put yourself through that agony. Talk to your
doctor and your genetic counselor to get their advice also.
I had an amnio because of my pregnancy age, 39. The previous
year, I had a miscarriage. I could've had a child born with
Down's syndrome also. I was afraid of a miscarriage with the
amnio, but like you, I didn't want a child with Down's Syndrome,
so I had the amnio. The procedure was entirely my decision. I
had it done. When the results came back normal, I was so
relieved, I cried tears of joy.
Good luck with your decision.
I understand how painful a decision this is for you but for what
it's worth I think you should have the amnio. At CPMC (in SF)
the rate of miscarriage from amnio is lower than 5% and I had an
amnio once (age 38) and at age 42 a CVS (even riskier) without
any trouble. The doctors there are really 1st rate! Since you
don't feel you'd be able to care for a Down's baby, what choice
do you really have? I think you should also factor in how easy
or difficult it was to get pregnant this time. At your age you
do still have time to have a healthy pregnancy. I'm sorry you
have to go through this and I know it would be devastating to
terminate/loose the pregnancy as well as to have a baby you feel
you can't handle!
I think you ultimately have to decide what would be worse for
you, to have a child with downs (or another detectable disorder)
or to have a miscarriage.
In my case, I rather lose a pregnancy than have a Downs child, so
I would have the amnio.
My sympathies! I recently went through some very similar
handwringing, in a very similar situation, though in my case the
nuchal scan came back with a very low risk of Down syndrome (1
in 3000-something) and the AFP with a *very* high risk (1 in 30-
something). In the end, I decided against the amnio, and a few
weeks ago I had a healthy, normal baby girl.
There is no ''right'' answer in your situation, only the answer
that is right for you. Most of my friends said they would have
chosen to have the amnio because ultimately, not *knowing* would
be the worst part for them -- and because they would do the
necessary research to find a doctor whose stats on complications
from amnio were considerably better than the overall average.
(For that matter, I have one friend who *did* choose to have an
amnio after a high-risk AFP result. The doctor she found to do
it had performed over 6,000 of the procedures and had never had
a complication. I can't recommend the doctor because he's in
New York, but I expect we have people with similar records here
in the Bay Area.) But for me, the risk that the amnio would
*cause* a miscarriage or other problem for a fetus that would
otherwise have turned out to be normal, even though it was a
very small chance, was not a risk I was willing to take; I just
didn't think I could live with myself if it happened. On the
other hand, the risk of having a baby with Down syndrome, while
not a prospect I relished to say the least, was something I
could imagine coping with if I had to. And for whatever reason,
decision having been made, I'm the type of person who would not
worry and stress out for the rest of my pregnancy over ''not
knowing.'' I was also fortunate enough, of course, to have had
the two different test results -- I chose to believe the good
result and disbelieve the bad one, a choice that was reasonable
given what limited data exists comparing them.
It was a difficult decision, though. The above is a very
condensed version of my thought process and the conversations I
had with everyone I knew who was or had been pregnant in the
last few years, as well as with Mickye Adams at East Bay
Perinatal, who was very helpful and supportive. My heart goes
out to you, and you have my best wishes for making the right
choice for you and for a happy and healthy pregnancy!
I too had the NT screen with the double marker blood tests.
Luckily, my results for my age (39 at the birth of my son) ended
up being less than that for my age (screen negative). I also had
the other screen test at a later date and that one came out
positive. My doctor felt the NT test was 90% effective while the
other test (forgot what that one is called) was about 75%. So,
we agonized over having amnio or not but decided to not do it
and play the odds. Our baby was absolutely fine.
If I had gotten your results (same risk with downs or with
miscarriage), I would probably have gone through with the amnio.
But, then again, I'm not sure. I remember feeling anxious about
our decision to not have amnio the entire time up until I laid
eyes on my son. It took us about 2 years to get pregnant so a
miscarriage would have been devastating.
I still believe that the odds are with you and everything will
most probably be fine but if you aren't willing to gamble, you
really need to have the amnio for peace of mind. But, remember
too, there are other defects and problems that could arise that
amnio will not guarantee...for instance, the risk of autism is
much higher percentage wise than your risk of downs. And, there
is no test for that. You have no idea what you'll have to deal
with down the road. It's just the risk you have to take if you
decide to have a baby. It is scary, but remember, that despite
how much they guilt and scare women 35 and over, the odds are
still with you that everything will be fine.
Incidentally, I ended up with preeclampsia post partum. My odds
for this were much higher (something like 5 percent of
pregnancies can get preeclampsia) than downs. Yet, I was never
warned about this. It was never discussed. The books I read gave
it only a few short paragraphs. And, even though my blood
pressure was up starting at week 36, the doctor still discharged
me after the baby was born and my post c-section hospital time
was up even though I was beginning to swell, I complained that
my heart wasn't pumping, and I had fluid in my lungs.
I went back to the hospital for another 3 days where they pumped
me with lassex and I peed all the fluid (and, all my baby
weight) in 24 hours. But, while it was happening, I really
thought I was going to die and leave my son with no mother, my
husband a widower.
In the end, we were all fine.
Good luck to you.
for an AMNIO ALTERNATIVE, see East Bay Perinatal Medical
Associates website: http://www.ebpma.com/NT_Screening.htm
Here's an excerpt: NT (nuchal translucency) screening is a new
procedure designed to detect certain birth defects during the
1st trimester, almost 2 months before previously possible. It
is a painless ultrasound examination that visualizes the area
behind the developing fetus' neck, which can accumulate
excessive fluid in fetuses that have Down Syndrome and certain
other birth defects. Although the presence of this finding does
not mean the fetus has a problem, the test will pick up
approximately 80% of all Down Syndrome fetuses when performed by
practitioners certified in this procedure. When combined with
blood testing for two pregnancy-derived biochemicals, free beta-
human chorionic gonadotropin (free-BetaĂ‚Â™) and pregnancy-
associated plasma protein A (PAPP-A), the detection rate for
Down Syndrome approaches 90%, approximately 30-40% more cases
than with traditional blood screening utilized today
Best of luck
This weekend (Sunday, June 20) there was a cover story in the
New York Times about Pre-natal testing - the pros, cons, larger
medical and social implications. It was really interesting,
and the current discussion about whether or not to have an
Amnio made me think to post this. (That and my personal
experience recently with getting ''ambiguous'' results from a CVS
test, requiring me to wait for 2 months for a confirmation
amnio, which was agonizing. [All was fine in the end, BTW!])
Worth a read - I'm sure the article will be retrievable online.
For what it's worth - the actual amnio process is not a big
deal, the rates of related miscarriage are very low around the
Bay Area. (It is HARD, by the way, to really connect a
miscarriage directly to the amnio, unless it happens in like
the next day or 2... a miscarriage later on could be a result
of any number of things.) I would still make a point of going
to one of the top practices - Goldberg and Otto at CPMG are the
best, and I hear UCSF is good too. Alta Bates Prenatal does
FAR fewer CVS's and I would NOT go there for that test, but I
don't know their amnio practice rate. I'm sure it's pretty
high - it's such a common procedure these days. I wouldn't
sweat the amnio if you're really sweating the possibility of a
special needs baby.
Good luck and try not to worry.
It sounds like the odds of a Down baby based on the nuchal
lucency test are just a bout the same as for your age anyway,
so, although it is not exactly 'negative', it doesn't seem too
I've had three children; with my first one, prgnant at age 35,
the obg still really INSISTED on an amnio, even though my risk
of abortion from the test would be highter then the risk of Down
at my age!! I refused. My second, pregnant at 37, my blood
test was positive and my (highly alarming type of midwife, as I
later found out) really insisted on an amnio, which I did; it
was negative, as I already knew in my gut. I absolutely
detested the test; I hated to invade so into the baby's sacred
space; my baby son foetus moved an extreme amount for the couple
days following it; plus, I was not allowed to lift anything over
ten pounds for a couple days, which meant for me I had to hire
babysitter just to help me with my then two year old for 8 to 10
hours a day; a little fact they never mentioned to me until
after the amnio. With my third, pregnant at 40, I just had an
intensive Ultrasound done, they looked at nuchal ligament
thickness and heart chambers pretty closely (I think these are
areas often abnormal in a Down's baby) and it looked fine. I am
SOOOOOO glad I didn't have an amnio done on her. She's a
beautiful normal child too. In short, in my experience, the
medical professionals way overstress having amnios; it's like a
mandate, so society won't have the expense of caring for a Down
person. One thing the amnio won't tell you either, is if this
baby will have severe or very mild Down's.
I am not too familiar with the nuchal lucency test, I think they
came out with it just after I had my last baby. I know a friend
though, in a very similar situation, who was also pressed to
have amnio after a ''positive'' nuchal lucency. Her daughter is
fine too, and the mother was quite young at the time too (I
think 35 or 36 - so young to be considering all these tests at
all, in my mind).
I would really ask a lot of questions: at what point, what
number, do they consider this test negative? How accurate is an
in depth late in preganancy ultrasound to rule out Down's (ie at
a point where you can still terminate pregnancy if you want), va
amnio etc. Really ask them for numbers, because they're really
have a pro amnio bias anyway, so you really have to interpret
the facts for yourself. I think they way overdo it on these
tests, and really cause a lot of maternal and familial stress:
instead of enjoying your pregnancy, you end up running from test
to test, at least that's how I felt. I also deleted that awful
sugar loading test in my last pregnancy: I said, hey, if I'm
diabetic, sugar would show up in that pee test with the stick
you do at every visit anyway. Anyhow, good luck. E-mail me if
you want. Leia
I faced this decision last year and decided not to have the
amnio. Although the risk of amnio induced miscarriage in my case
was about half of the risk of Downs, somehow the miscarriage risk
*felt* high and the Downs risk *felt* low to me. My decision in
the end was based on emotions rather than numbers: 1- it just
felt wrong to violate the womb by sticking a needle in it, and 2-
I came to realize that what I wanted to know wasn't ''does the
baby have Downs?'' but ''is the baby fine?'' and there is no test
that can tell you ''is the baby fine?''. Not to make you worry
more, but so many things can happen during pregnancy, delivery,
infanthood, childhood and on that I decided knowing the baby did
or did not have Downs wouldn't solve the bigger question and I'd
just have to make peace with the basic element of risk that is
always present. Which I have.
- good luck with this hard choice
I just finished spending the weekend with my sister and brother-
inlaws, and their two children. Their older son (almost 3) has
Down's syndrome, and a host of other related health problems.
He's had several surgeries, been near death several times, and
is still on an oxygen line at night, a feeding line, and has to
have his trachea suctioned out frequently. He also is very
withdrawn (may be autistic, or at least deeply depressed), and
is not interested in interacting with relatives or other
people. I say this to remind people that not all Down's
syndrome kids are happy positive kids who are a joy to be
around. He has nearly ruined their marriage, and their younger
daughter gets very little attention.
They did not do amnio the first time because my sil was 35 and
they thought it would all turn out fine. They DID get amnio
the second time, because they knew they could not handle
another kid with birth defects. I also have another
acquaintance who recently had amnio and make the difficult
decision to have an abortion. I did the nuchal translucency
and blood screen when I was pregnant (I was 33), and the
results were negative. If we get pregnant again, I have no
doubt that I will have either CVS or amnio.
A mom who knows her limits
After all the discussion I had to chime in. At age 37 I found
out our baby had Down Syndrome. I would have been 37 at
delivery. Second pregnancy, 38 at delivery, Down Syndrome
again. I hate to tell you, but it does happen. Most people
don't talk about negative amnio & cvs results - many wome! n tell
friends and family they had a miscarriage. One other thing -
until you are given negative results from an amnio or cvs,
parents really do not know what they will do. This is not to
scare you but to let you know it does happen.
the other side
My first child I had when I was 34, so I had an ultra-sound and
AFP test but no amnio. My second child I was 37
with no indications of any problems, but my ob was pushing for
the amnio. Also many of my friends had also had aminos, and
thought it was no problem as well as thought I was crazy for
even questioning it. I was still on the fence about the whole
thing when I went in for a scheduled appointment for a amino.
They do an ultra sound first. My tech was fantastic.
Everything she looked at and measured she told me what it was
and why she was measuring it. She looked for a cleft ! palete,
heart problems, and many downs markers. I can't remember them
all, but the amount of information was much more than it was for
my first child. I'm certain she wasn't suppose tell me all that
she did, but I was so happy and relieved she did. When she was
finished, I told her I really didn't feel good about having an
amnio. I asked her if she saw any reason that I should be
concerned and have an amnio. She said the only 100% is to have
an amnio, but she saw nothing to indicate that I needed one.
The nurse and doctor then entered, and I told them I was going
to skip the amnio, and they seemed a little miffed at me. After
knowing all they can see in the ultra-sound, it kind of felt
like amnio's were a cost center that made the imaging center a
good profit. I really don't know, but I was surprised no one
consulted me on the ultra-sound results before trying to give me
the amnio (well ! the tech did. I think she even said she wasn't
suppose to tell me all the info, but I don't remember exactly)
My child turned out fine, and is currently trying to turn off my
computer because he wants me to read him a book. Just thought
I'd share my experience.
I missed the original posting and I know there have been tons of
replies, but I couldn't resist adding one because I just went
through this decision yesterday and found it very stressful. I
had a nuchal translucency test that came out ``negative'' (i.e.
a lower risk for Down's than for my age group, 1/670 or
something like that), and then last week had an AFP test that
came out ``positive'' with a 1/120 risk of Down's. I already had
a 20-week ultrasound scheduled, so my midwife advised me to add
genetic counseling and possibly an amnio. I am 34, but will turn
35 three months before the baby is due. We had previously
decided based on the nuchal results that an amnio was not worth
the risk (1/200 to 1/300 for miscarriage). Even so, I'm kind of
a worrywart, and I worried throughout my whole first pregnancy
(which resulted in an extremely healthy son, now! 2).
I found the genetic counseling to be very unhelpful in making a
decision - the genetic counselor either couldn't or wouldn't
answer my main question, which was: Should we put more
confidence in the NT which supposedly is 90% accurate, or the
AFP, which is only 60-70% accurate? And logically, doesn't it
make sense that my risk would actually be much lower than 1/120
since an earlier test put it at 1/670? She kept saying I was
comparing apples to oranges, since the tests were screening for
differenct hormones. Still unable to reach a decision (my
husband was against amnio, I was leaning towards it), we decided
to go in for the detailed ultrasound and make the decision on
the spot, based on whether the baby seemed ok. Then doctor came
in and answered my main question right away. He said it's always
better to look to the most accurate test, and said having the
normal ultrasound wihout any ``soft markers'' lowered my risk by
another 40 percent. So an amnio would probably be more risky. We
chose to believe him rather than the genetic counselor (who had
also encouraged us to get other testing that seemed excessive),
Since the baby looked so peaceful on the screen, I couldn't go
through with the amnio and I feel ok with it.
An interesting thing the doctor told me is that the AFP test is
not designed for women who have already had the nuchal test.
They are both screening tests, but AFP is a much older test, and
nuchal is new. So there isn't yet a meaningful way to compare
them, and if you get contradictory results it can be very
stressful. There just isn't real data to compare them. I now
wish I hadn't even had the AFP, since it just added a lot of
There is still a part of me that would like to get the peace of
mind from the amnio, which chances are would not have caused a
miscarriage. It's a really personal decision, and ! of course one
has to come face to face with the gut-wrenching question of
whether you would want to terminate a pregancy because the baby
had a non-life-threatening problem. This can be even harder to
face if you already have another child, who would inevitably
lose out on some attention. Hopefully, one day soon, there will
be some better options forprenatal testing that are more
accurate, less invasive, and don't cause us all such confusion
Sorry to drag this topic out even further, but I missed the
original posting and felt compelled to chime in. I was 37
when I was pregnant the first time. I was always fairly certain
about having the amnio--my mom had them with my
youngest sisters, and I had always been one to ignore
minor risks (like a loss from the amnio) and focus on the
major ones. Two weeks after the amnio, I learned that I was
having a healthy baby girl. Two weeks after that, I was in the
hospital to have labor induced because my amniotic fluid
had leaked following the amnio and my baby had ultimately
died. No one at Kaiser had caught the leak despite
numerous visits to my doctor and the emergency room, and
no one there had told me what to do in the event of a leak
(bedrest, supercareful about infection, etc.). So, not to scare
all! of you, but you CAN come out on the wrong side of those
statistics--and the statistics only count losses that occur
within 2 weeks of the amnio, even when they are clearly
caused by the procedure. With my second pregnancy I had
nuchal translucency screening; had it come back high, I
might have considered the amnio, but with a low risk result,
I chose not to have one. My advice is twofold: First,
ABSOLUTELY have nuchal translucency screening to help
you come up with more information to decide about invasive
testing (and if your plan doesn't cover it, like mine doesn't,
pay for it yourself--it's worth it). And second, consider
whether you would terminate if a chromosomal defect was
found. If you would not, there's no point having the
procedure and incurring the risk. If you would, it may well be
worth the risk.
When I am 12 weeks pregnant I am scheduled to have the nuchal
translucency measurement ultrasound (a mouthful!) Our O.B. said it
is more reliable than the AFP blood tests in predicting whether your
child might have Down's. I am aware with this test that there are also
false positives and we may need to go ahead and do an amnio. anyway.
Since it seems only recently that this early screening for Down's is
more routinely recommended, I don't have any friends who have had
it done. I was curious to hear more about the process and whether
people think this is in fact is an effective way to screen for Down's
earlier in the pregnancy. Any comments/advice much appreciated.
I had the nuchal translucency test done for my second pregnancy
because my midwife recommended it. My results came back with
very low odds for downs but I had an amnio anyway because I am
over 35. I had had the AFP for my first pregnancy, which came
back borderline and subsequently I had an amnio. Happily,
everything turned out to be fine. Personally, I was happy to
get whatever potential information I could about my babies in
utero so I was glad to do the nuchal translucency before I did
the amnio. I don't know if the nuchal translucency has more
false positives than the AFP but I prefered it over the AFP
because it uses an ultrasound to measure the nape of the baby's
neck which it correlates with the levels of hormones the blood
test measures. The AFP just looks at the hormone levels. Also
the nuchal translucency can be done earlier in the pregnancy
which I think is a huge advantage.
I turned 35 2 weeks before my 2nd daughter was born, and I had a
Nuchal Translucency done at California Pacific Medical Center.
It was a piece of cake; just like a regular ultrasound on your
belly. Pain free, fairly quick, and I got an instant reading and
consultation with a physician right after the test, to read the
results and get an interpretation.
It measures the size of a fold of fat on the back of the baby's
neck, which can be an indicator of Down's. I felt confident in
the results, and chose not to get an amnio, as all my other tests
were normal too. Definitely an easy test to take, and well worth
the peace of mind. Good luck!
I love the nuchal translucency test. The perinatologist
measures the fold of skin behind the baby's head. This
measurement goes into a computer combined with your age and
gives you the odds of having a child with Downs Syndrome. The
first time I had this done I was pregnant through IVF, 37 years
old and spotting heavily. I really didn't want to have an amnio
for fear of losing a hard won pregnancy. My odds for D.S. just
based on my age were 1:257 (I think, or maybe 1:157). The odds
after the test were around 1:1200. The odds for having a
miscarriage from an amnio were 1:300. So, the odds were 4 times
greater of having a miscarriage of a perfect child than of
The next time I was pregnant, I was 39 and chose to have an
amnio. At that time, I needed to rule out everything since it
would affect our entire family.
Good luck with your pregnancy.
I am about 17 weeks pregnant and over 35 and had the nuchal
translucency test done around week 12 or so. It's a very simple
procedure - a blood test, which is nothing more than a prick to
the finger and an ultrasound. You should know that due to it's
relative newness, not all insurance companies cover it. In
fact, I believe they told me that none of them cover the blood
test which costs $90.
You'll get the results back in about a week and they'll tell you
your odds of having a child with downs and I believe one other
issue, spina bifida perhaps. The odds are for the most part
based on your age - unless they see something else in the
ultrasound. My understanding is that they are actually
measuring the area around the neck.
My doctor also recommended that I get the AFP in addition but to
check the box that states I've had CVS - so that they don't
screen for the same things that the NCT did. NCT's are supposed
to be far more accurate indicators than AFPs - not as many false
I had a NTU at 20 weeks and all it consists of is an ultrasound
test with measurements taken of the baby's body in various places
on the technician's screen, so it is not uncomfortable at all.
I am currently 37 weeks and 36 years old and didn't want to do an
amnio due to the added risks. The NTU test is 90% accurate and
if you don't plan on terminating your pregnancy if the chances
are great that your child may have Down Syndrome, then having an
amnio may not be needed (as in our case it was a 1 and 2031
chance that our baby may have down syndrome, but we would not
terminate the pregnancy if the odds were closer together, hence
no amnio needed)
Also we did the AFP blood test to follow up any other genetic
results as the AFP tests for other genetic things in your family
that the ultrasound test does not test.
Hope this is helpful and good luck with your pregnancy.
I would highly recommend the Nuchal Translucency test for anyone
whose insurance will cover it (or who can afford it). It really
gave me peace of mind to find out so early that everything
looked normal with the baby. The test is very non-invasive--
simply an ultrasound that measures the baby in various places
(especially the neck). If you wait until the ''regular''
ultrasound (or AFP) you will be in your second trimester before
finding out about birth defects. It is supposed to be 80%
effective in determining birth defects versus 60% for the AFP.
Good luck in making your decision.
Amber in Alameda
I was also offered the nuchal translucency ultrasound for my
I jumped at the opportunity as it is a non-invasive procedure
and it would mean that I could get an early glimpse of the baby
in my tummy and hopefully assurances that all was well with the
Before the procedure you will likely meet with a genetic
counselor who will review the reliability of this test vis a vis
the other tests (AFP, etc...) They are the best equipped people
to help you understand what the various tests mean, which are
more reliable, etc...
It is important to remember that most prenatal tests (nuchal
translucency ultrasound, AFP, regular ultrasound) are screens ^V
meaning that they don^Rt provide conclusive results. They merely
indicate whether or not there MIGHT be a problem.
Having had an amnio during my first pregnancy (they found
something that could be interpreted as abnormal during our
regular ultrasound and I wanted to know if there indeed was an
issue), I thought I would probably want an amnio with my
second. However, I opted to proceed with all of the non-
invasive screening tests and see if I was anxious about the
health of my baby or not after these tests. I did not end up
having an amnio with my second.
Good Luck with Your Pregnancy
I had the Nuchal done and thought it was great. I had my first
child when I was 36 and had an amnio which was scary. I then
had two miscarriages. I got pregnant for the fourth time when
I was 38. Having been through child birth/parenthood with the
first, I was much more comfortable with the idea of having a
disabled child. In addition, I wasn't about to risk the
pregnancy with another amnio. I didn't do tons of research,
but my understanding was that the Nuchal is widely used in
Europe and that one of the reasons for the problems in the U.S.
is due to lack of experience of the testers. It's completely
non-evasive and ultrasounds are always interesting. I found
the statistical results to be fascinating. One of the other
tests I took (I can't remember which one), came back with a
pretty high chance of downs. My doctor said that compared with
the results of the Nuchal, she was pretty sure this other test
was a false positive. Also, she said that with the nuchal, if
the child did have Downs, it would be fairly mild. (Organs
were the right size, etc.)
I just had this test. It involves a pin prick of the finger
and the blood is placed on a sheet of paper and an ultrasound
to measure the nuchal translucency. While the baby is in
profile, they measure, via the ultrasound equipemnt/computer
the nuchal translucency which is an outside layer on the
profile of the face. Kind of hard to expalin, but you will see
them doing it during the ultrasound. My baby was active and
would not go in profile, so they had to do an invasive
ultrasound as well, but most are evasive.
They will give you literature the day of that will give you all
the statistics you are looking for and I remember my doctor
saying that the false positives were drastically less.
I had a nuchal translucency test at about 10 weeks and
there seems to be no downside, except some uncertainty
about whether the insurance will cover it (mine did, except
for a $75 lab fee). However, it's important to remember that
it's not a diagnostic test, but merely provides an estimate of
the degree of risk for Down's. The only way to know for sure
is to have the amnio. In my case, the risk was so low that we
decided not to do an amnio.
I had this test with my twins, and would highly recommend it to
anyone who wants to avoid an amnio.
I was 35 at the time, and so generally would have had an amnio
automatically. However, I was distressed by the higher rate of
miscarriage with an amnio and twins--1 out of 100, instead of
the 1 out of 200 or 300 it is for singletons.
The neuchal fold test did not rule out the risk of downs,
chromosomal or heart problems like the amnio would have, but
the positive results on that test reduced the likelihood of my
boys' having any of these problems dramatically, to the point
where my risk was lower than a teenager's for having a baby
with these problems.
Those results were good enough for me so that I didn't go on to
have an amnio. I wouldn't recommend this test if you know
you're the type of person who will need to know *for certain*
whether or not your baby has a problem, regardless of positive
results on this test. If you plan on (or think you'll end up)
having an amnio anyway, this test isn't worth it-- my insurance
wouldn't pay for it (but they would pay for an amnio).
I'd talk to a genetic counselor if you have questions. But do
it quickly--there is a specific window for this test.
FWIW, my boys were born 5 weeks ago, and are perfect!
I had the nuchal translucency test with both of my pregnancies.
The main advantage is that it is completely non-invasive and is
done at an early stage of pregnancy. My understanding is that
it is more reliable than AFP but like the AFP, the nuchal
translucency test is just a screen and the results given are risk
factors. Amnio, on the other hand, is a diagnostic test that
gives you a definitive yes or no. In my case, ''good'' results from
the NT test helped me decide not to undergo the amniocentisis.
I have not had this procedure but my cousin who lives in
Seattle did (as part of a study)- no problems detected & the
baby is healthy (she was 38 and chose not to do an amnio). I
would love to hear from you where you are having the procedure
and how it goes.
I recently had a nuchal translucenty ultrasound at CPMC and
would be glad to share my experience and understanding of the
test with you. Feel free to contact me at my e-mail address.
With all of the discussion about nuchal translucency ultrasound
taking place on this forum, I felt this was a good opportunity
to educate the public at large that the correct terminology is
Down syndrome (big D, little s and no 's) and not Down's.
Although many people (including professionals who should know
better) incorrectly use Down's to shorten Down syndrome, it is
flippant to refer to people with Down syndrome as having
Down's. Please be assured that I am not being critical, just
wanted to pass on correct information.
Respectfully, An advocate for the Down syndrome community
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