amniozentese?

[Christoph Herche]

hi,
in 2 weeks I´ve an analysis of my amnion fluid
(i dont know the right english word for it, we call it "amniozentese").
Could anybody tell me something about this, it´s my first time...Thanks, Al

[Ericka Kammerer]

Christoph Herche wrote:

> hi,
> in 2 weeks I´ve an analysis of my amnion fluid
> (i dont know the right english word for it, we call it "amniozentese").
> Could anybody tell me something about this, it´s my first time...Thanks, Al

It's spelled "amniocentesis" in the US. They use a needle
to draw out a small amount of amniotic fluid that will contain
small amounts of genetic material from the baby. This genetic
material will be analyzed to see if there are certain chromosomal
anomalies (the most common being Downs Syndrome or other trisomies).
They don't test for all possible chromosomal anomalies. They only
test for a specific subset of more common anomalies. The test
also cannot tell you much, if anything, about other congenital defects
that do not involve genetic defects, nor can it always tell you
the severity of a particular defect (like Downs Syndrome).
So, the benefit is that you will have additional information
about a specific set of possible defects (and they can tell you
the sex as well). The risks are that amniocentesis causes
miscarriage in about 1 in 200 cases and there is a small possibility
that it will cause infection or injury to the baby. In deciding
whether you want to have this test done, you should evaluate
whether the information gained is worth the risk in your
particular situation. One way to look at that is to ask what
you or your caregivers would do differently with a diagnosis
of Downs Syndrome or one of the other disorders that can be
detected by amniocentesis.
Here is a website that describes the procedure:
http://www.healthsystem.virginia.edu/uvahealth/peds_hrpregnant/amnio.cfm
There are, however, two inaccuracies on this page. It claims
that the 1 in 200 miscarriage rate is only slightly higher than
the miscarriage rate without amnio. This is incorrect. The 1 in 200
figure is calculated from studies that eliminate the background
miscarriage rate, so it represents the *excess* risk of miscarriage
due to amnio. The other inaccuracy is that it is used to diagnose
spina bifida. Amnio is not diagnostic for spina bifida, but amniotic
fluid AFP levels (which are typically tested during amnio) are
typically higher when there is an open neural tube defect. Closed
neural tube defects may not show up as an elevated amniotic fluid
AFP level. If the amnio turns up a suspicious result, a detailed
ultrasound will be used to more definitively diagnose the neural
tube defect.

Best wishes,
Ericka

[alath]

Ericka Wrote:
> In deciding
> whether you want to have this test done, you should evaluate
> whether the information gained is worth the risk in your
> particular situation. One way to look at that is to ask what
> you or your caregivers would do differently with a diagnosis
> of Downs Syndrome or one of the other disorders that can be
> detected by amniocentesis.

This is a good question to ask, but most people answer it far too
narrowly.

Most people answer the question, "What would I do differently, right
away, if I had the diagnosis of a karotypic defect?" This usually comes
down to a question about whether one would terminate the pregnancy or
not. That is an important question to answer, but it's not the only
one.

The next - usually unasked, usually unanswered - question is, "what
might I do differently throughout the rest of my pregnancy if I had the
diagnosis of a karotypic defect?"

For instance, if you had a diagnosis of trisomy 21, would you want to
have a fetal echocardiogram in an antenatal diagnostic center, to find
out if the baby has a heart defect that will require surgery after
birth? Trisomy 21 babies have high rates of heart defects. If you want
to continue your trisomy 21 pregnancy and have a live baby at the end
of it, you will want to know if the baby needs to be delivered in a
pediatric cardiac surgery center. If you have the ultrasound diagnosis
of a heart defect but don't have a karotype, you're still lacking
information because you need to know whether the baby is a candidate
for heart surgery. If the baby has trisomy 21, he/she might be. If the
baby has trisomy 13, he/she won't be.

Or, for another instance, if you had a baby with trisomy 13 (a lethal
trisomy - no chance of long-term survival), would you want to have an
emergency cesarean section based on a nonreassuring fetal heart rate
tracing? Would you want to risk maternal surgical complications to
"save" a baby who will have a radically shortened life span in any
case?

If you had a baby with trisomy 18 (another lethal trisomy) would you
want to conservatively manage (ie, delay delivery) if you developed
pre-eclampsia prior to term? Would you want to risk maternal
complications of pre-eclampsia in order to prolong gestation for a baby
who will have a radically shortened life span in any case?

Ericka is right that before doing any diagnostic test one should
consider how the information might change one's clinical management.
But you have to be sure you're considering all the possible
implications, not just the ones you're thinking about right now.

[April & Bump]

I think this test is quite a hard one if you are told you SHOULD have it..


I personally wouldnt risk the misscarrage risk of the test but I suppose
thats just my religious belives getting in the way. It wouldnt change much
if I got told I have a downs baby because I would still have the baby and
love him/her all the same. On the other hand I can understand why some mums
to want it done and parents that do terminate the pregnancies after finding
out baby has a disformity.

However the doctors can get it very wrong....my sister inlaw was told she
was carrying a baby with a high risk of spina biffia and a cleft pallet but
still went ahead with the baby and oops out comes baby Shayla and nothing
wrong with her just a normal healthy pumpkin.

I was also brought up with a disabled step brother who will never be able to
live on his own and I was having a confersation about this with my step mum
and she said that had the test been around before Paddy was born and she had
found out the disabilities he has before he was born then she would have
terminated the pregnancie because of the fact that it would have been kinda
for Paddy but also because it a very hard stressfull thing to do bringing a
child like Paddy up and I suppose in a way she worries who will look after
him like she has when she lives this world and lives him in it.

Its a hard one for sure!!!!!!!!!!!!!!

[Ericka Kammerer]

alath wrote:


> Ericka is right that before doing any diagnostic test one should
> consider how the information might change one's clinical management.
> But you have to be sure you're considering all the possible
> implications, not just the ones you're thinking about right now.

Absolutely--there's more involved than just to terminate
or not. You have to weigh the balance of that against the
likelihood of any of the conditions happening, the alternative
courses of action available, and the risks of the procedure.
It's a complicated decision, and one that can only be truly
weighed by the person in the situation armed with a reasonable
amount of information.

Best wishes,
Ericka

[Joybelle]

"April & Bump" > wrote in message
...
> I think this test is quite a hard one if you are told you SHOULD have it..
>
>
> I personally wouldnt risk the misscarrage risk of the test but I suppose
> thats just my religious belives getting in the way. It wouldnt change much
> if I got told I have a downs baby because I would still have the baby and
> love him/her all the same. On the other hand I can understand why some
mums
> to want it done and parents that do terminate the pregnancies after
finding
> out baby has a disformity.


We were recently told our baby has spina bifida via u/s. We chose to get an
amnio after finding out. Not because we would terminate, because we aren't
going to. Alath wrote an excellent post on going beyond the question of
knowing. Our baby has spina bifida, arnold-chiari malformation, and
potential hydrocephalus. If the baby also has chromosomal abnormalities
then the possibility of survival is extremely low. How does this knowledge
affect us? Vastly. If all my baby has is sb, and the survival potential is
high, I'll be delivering by c-section at a hospital two hours away. The
baby will have a team of neurosurgeons, etc on hand, so the baby can have
surgery as soon as possible. If the baby has chromosomal abnormalities, and
the survival rate is low, I will be having this baby at home with my family
and having my time with the lil' one.


However, I didn't have an amnio with the other three. You have to weigh
your risks and benefits of the knowledge, and it goes way beyond termination
in many cases.

Joy

[Christoph Herche]

Hello,
thanks alot for your guidance and the deepness of thoughts,
best wishes to you all,
Alexandra
"Ericka Kammerer" > schrieb im Newsbeitrag
...
> alath wrote:
>
>
> > Ericka is right that before doing any diagnostic test one should
> > consider how the information might change one's clinical management.
> > But you have to be sure you're considering all the possible
> > implications, not just the ones you're thinking about right now.
>
> Absolutely--there's more involved than just to terminate
> or not. You have to weigh the balance of that against the
> likelihood of any of the conditions happening, the alternative
> courses of action available, and the risks of the procedure.
> It's a complicated decision, and one that can only be truly
> weighed by the person in the situation armed with a reasonable
> amount of information.
>
> Best wishes,
> Ericka
>

[KC]

April & Bump wrote:
> I think this test is quite a hard one if you are told you SHOULD have it..
>
>
> I personally wouldnt risk the misscarrage risk of the test but I suppose
> thats just my religious belives getting in the way. It wouldnt change much
> if I got told I have a downs baby because I would still have the baby and
> love him/her all the same. On the other hand I can understand why some mums
> to want it done and parents that do terminate the pregnancies after finding
> out baby has a disformity.
>

I also wouldn't chance the extra miscarriage risk. I am not religious
though. In fact I am atheist, but I just don't want any regrets. I
don't want a miscarriage to happen and me to think that something I did
caused it.

I would abort if some defects were present, but I decided 3 times to
forego the amniocentesis test and rely on the other tests available,
like an anomoly scan and fetal nuchal scan.

KC