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Maternal Serum Test Came Back as "Slightly Higher Risk"



 
 
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  #1  
Old January 4th 06, 04:25 AM posted to misc.kids.pregnancy
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Default Maternal Serum Test Came Back as "Slightly Higher Risk"

Greetings All, my wife and I are in our 18th week and we just got back
the results of our Maternal Serum Test. The doc says we have a
slightly higher risk than normal for downs, 1/129 to be exact. First
off we conceived via IVF (third attempt was the charm) and we had PDG
on the embryos (8 went out for testing 6 came back bad, two good and
they were transferred). The two embryos that came back were supposedly
genetically perfect, no indicator of trisomy 21 or any other
abnormality for that matter. So now we are terrified not knowing what
it going on with our little bundle of joy. What are the odds that PGD
would miss trisomy 21 and then having the embryo implant? We are in
the process of scheduling a level II ultrasound and I guess from there
we have the option of amnio if that test comes back demonstrating one
or more markers. I have been doing a bunch of reading and it seems
that the tri-test in far from perfect and that there are many reasons
why any of the three tests would come back out of the expected range.
It should be noted that they were only supposed to test the AFP
(protein) and they goofed up and tested the other two items (hcg,
estrosis?) as well. My wife was also doing a glucose test that day as
well. I understand that we won't know until we have further testing
but I guess that I am just looking for some uplifting stories that will
at least make me feel that the maternal serum test is simply wrong and
the PGD testing was right.

  #2  
Old January 4th 06, 05:01 AM posted to misc.kids.pregnancy
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Default Maternal Serum Test Came Back as "Slightly Higher Risk"

LineVoltageHalogen wrote:
Greetings All, my wife and I are in our 18th week and we just got back
the results of our Maternal Serum Test. The doc says we have a
slightly higher risk than normal for downs, 1/129 to be exact. First
off we conceived via IVF (third attempt was the charm) and we had PDG
on the embryos (8 went out for testing 6 came back bad, two good and
they were transferred). The two embryos that came back were supposedly
genetically perfect, no indicator of trisomy 21 or any other
abnormality for that matter. So now we are terrified not knowing what
it going on with our little bundle of joy. What are the odds that PGD
would miss trisomy 21 and then having the embryo implant? We are in
the process of scheduling a level II ultrasound and I guess from there
we have the option of amnio if that test comes back demonstrating one
or more markers. I have been doing a bunch of reading and it seems
that the tri-test in far from perfect and that there are many reasons
why any of the three tests would come back out of the expected range.
It should be noted that they were only supposed to test the AFP
(protein) and they goofed up and tested the other two items (hcg,
estrosis?) as well. My wife was also doing a glucose test that day as
well. I understand that we won't know until we have further testing
but I guess that I am just looking for some uplifting stories that will
at least make me feel that the maternal serum test is simply wrong and
the PGD testing was right.


The PGD testing is more specific than the triple
screen. It's not so much that the triple screen isn't perfect
as it is that the triple screen is designed to be just that--
a *screening* test. It simply identifies a pool of candidates
for further testing. A substantial majority of those who
have a postive screen have perfectly normal babies. The
goal of the test isn't to identify babies with trisomy 21.
The goal is to eliminate those who are very unlikely to
have trisomy 21 (who therefore won't benefit as much from
invasive testing that poses a risk to the pregnancy), but
the price of that is that many women with perfectly healthy
babies end up in the higher risk pool for further screening.
Even without the PGD testing, the odds would be very
much in your favor. Even the results returned say that you
have a better than 99 percent chance of having a baby without
Downs Syndrome. Add in the PGD, and odds are extremely good
that the baby does not have Downs Syndrome.

Best wishes,
Ericka
  #3  
Old January 4th 06, 05:16 AM posted to misc.kids.pregnancy
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Default Maternal Serum Test Came Back as "Slightly Higher Risk"

Thanks for your input Ericka. My wife and I are just so worried over
this. We have been trying to get preggers for just about 4 years now
and when we finally get pregnant we thought the rest was going to be
easy! My mother must be right when she says ".. once you're a parent
you never ever stop worrying .."

  #4  
Old January 4th 06, 06:27 AM posted to misc.kids.pregnancy
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Default Maternal Serum Test Came Back as "Slightly Higher Risk"

Congratulations to you and your wife on the pregnancy.

Ericka has got all the info - she's good like that.

I would just like to add that your baby has a 128 out of 129 chance of
not having Downs Those are pretty good odds.

All the best
Camille

  #5  
Old January 4th 06, 02:30 PM posted to misc.kids.pregnancy
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Default Maternal Serum Test Came Back as "Slightly Higher Risk"

Thanks for your words of hope Camille.

  #6  
Old January 4th 06, 03:53 PM posted to misc.kids.pregnancy
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Default Maternal Serum Test Came Back as "Slightly Higher Risk"

LineVoltageHalogen wrote:
Thanks for your input Ericka. My wife and I are just so worried over
this. We have been trying to get preggers for just about 4 years now
and when we finally get pregnant we thought the rest was going to be
easy! My mother must be right when she says ".. once you're a parent
you never ever stop worrying .."


So very true--and alas, the worries tend to get
*worse* once they're out, not better! But a lot of it
is keeping perspective, and a better than 99 percent
chance your baby does not have DS is pretty darned good.

Best wishes,
Ericka
  #7  
Old January 4th 06, 04:05 PM posted to misc.kids.pregnancy
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Default Maternal Serum Test Came Back as "Slightly Higher Risk"

Thanks Ericka. We are now waiting on our date and time for teh level
II ultrasound. We are going to Brighams and Women's hospital in Boston
which makes me feel better. They are supposedly one of the best
facilities on the planet for this sort of thing. I eagerly await the
Dr's conclusion that all is normal and we have nothing to worry about

  #8  
Old January 4th 06, 04:41 PM posted to misc.kids.pregnancy
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Default Maternal Serum Test Came Back as "Slightly Higher Risk"

LineVoltageHalogen wrote:
Thanks Ericka. We are now waiting on our date and time for teh level
II ultrasound. We are going to Brighams and Women's hospital in Boston
which makes me feel better. They are supposedly one of the best
facilities on the planet for this sort of thing. I eagerly await the
Dr's conclusion that all is normal and we have nothing to worry about


Adjust your expectations now. They're *never* going
to tell you there's nothing to worry about, and even with
experienced technicians, ultrasound is not a crystal ball.
You're not going to have that ultrasound and walk out with
the weight completely lifted off your shoulders, and if you
expect that, you'll feel even *worse* when it doesn't happen.
*If* the baby is cooperative (and some aren't), you'll
likely get a result that will not show any soft markers and
they'll likely give you an adjusted risk for DS that is lower
(but non-zero). Or, they might find an isolated soft marker.
Or, they might find something else funny. Or the baby might
not get into an optimal position and there might be things
they can't visualize and measure as well as they'd like, so
they won't be able to rule everything out. It is not
uncommon for spurious things to show up. If you understand
that none of this is perfect, you can accept the results
for what they are and realize that you don't really have
any reason to have an elevated level of concern. If you
expect everything to be perfect and to get an absolutely
clean bill of heath, then there are decent odds that
you'll be *really* stressed out after the u/s.
Also, take some time to consider before you go
in what you might do based on the results, or at least
formulate the questions you'd want answered in order
to make decisions. For example, what would you do
if they couldn't see some things well enough but
didn't have any indication of problems? Schedule
another u/s? Figure it was good enough? What would
you do if there was an isolated soft marker for DS?
Would you go for the amnio, even though it does introduce
a risk? If the amnio came back positive for DS, would
you terminate the pregnancy? If not, is the amnio worth
the risk in order to get the definitive information,
considering that the PGD testing presumably already
tested those chromosomes directly? There's no easy
answer to these questions. They all depend on your
personal values. But I think it's helpful to sit
down and work through the issues in the abstract so
that you're a bit more prepared to react to whatever
happens with the u/s. Odds are still very, very high
that your baby is just fine; however, there is a possibility
that the u/s may have somewhat equivocal results even
if the baby is fine, and recognizing that possibility
can save you some anxious times, and also save you from
making decisions before you've had a chance to think your
way through them.

Best wishes,
Ericka
  #9  
Old January 4th 06, 04:58 PM posted to misc.kids.pregnancy
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Default Maternal Serum Test Came Back as "Slightly Higher Risk"

Hi there!

I've been in your boat! I am 34, and my maternal serum test came back
with a slightly elevated risk for Downs as well.

At first we didn't know what the heck 'slightly elevated' was supposed
to mean, they didn't give us any hard numbers to go by. But like you,
we were scheduled for a level II u/s to look for soft markers, with the
option of amnio if those markers did show up. Scary!

The u/s provided far more reassurance than terror. They didn't find any
soft markers, so that reduced our risk. However, they did find a cyst
in the baby's brain. It was stressed to us that this is not unusual, it
*can* be a soft marker for another abnormality, but might not be, lots
of perfectly normal babies have these too. So we were told to come back
for another u/s a few weeks later to look again, and they would compare
measurements to the first time and see if the cyst was still there.
Always something to worry about with this pregnancy business!

In the end the cyst was still there, but everything looked great. We
were reassured by our medical professionals that everything seemed
normal, and that a large part of my risk was age-related. We opted
against going for the amnio, and we're showing every sign of having a
perfectly healthy baby. I'm just about at week 29, being pummelled all
the time, and loving every minute of it.

The odds say that your baby is perfectly fine and healthy. I know it's
difficult, but don't let the docs scare the bejesus out of you with the
numbers game. Even your 'elevated' risk is still REALLY low!

Good luck!

KD

  #10  
Old January 4th 06, 05:09 PM posted to misc.kids.pregnancy
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Default Maternal Serum Test Came Back as "Slightly Higher Risk"

Ericka Kammerer writes:

So very true--and alas, the worries tend to get
*worse* once they're out, not better!


Yeah, what's up with that? I asked my mom if I'd start worrying less at
some point, and she said "Sure you will. In about 30 years."

Liz, who has lots of grey hair now. ;-)

 




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