Parents' experiences of screening for Down's: How do views change throughout pregnancy?

#2 - Wanted the info - just to know. Merely offered by the doctor with
no pressure either way. It came back 1:10 chance of downs. I was not
actually told this number until after the second ratio was available. I
had an ultrasound to get better dates and the new results were, IIRC,
1:50 risk. The doctor explained the test, what the results did and did not
mean and my options from there (ultrasound vs. amnio vs. nothing). I also
did some research on my own. I new I would not terminate no matter what
and I knew I wasn't going to do anything risky like an amnio so we decided
to have the Level II ultrasound. Baby did not have downs btw.

That sounds horrible, I was given the impression that because the results
did depend so much on dates that it was pretty much a given that you had a
dating ultrasound prior to it. 1 in 10 is low enough to freak most people
out, 1 in 50 is lower than normal (depending on your age), but probably not
low enough to give too much concern, all for the sake of a quick ultrasound.

Cheers

Anne

This is a topic of discussion that comes up rather often here. It is
not unusual.

I have 2 children. As a matter of principle I don't do screening
tests. I know my history, I understand risk and the limitations of
screening tests, and if I think the risk is sufficient and the benefit
of knowing is sufficient, then I go straight for the full test. With
both pregnancies, I met the criteria to be offered screening for
Downs, and to be offered amniocentesis. I declined them all (but see
below).

I had no screening test for Downs with either pregnancy. I thought
about it and decided the risk of Downs and other defects was not a
reason to terminate, hence not a reason to screen. If there were a
problem, there would be signs. And I knew I would have at least one
thorough ultrasound. I generally don't feel a need to try to know in
advance what will happen...and to me a screening test in any case does
not satisfy that need.

With the second pregnancy, I eventually did have amniocentesis for
full karyotyping. I was pressured into doing the amniocentesis, and I
immediately regretted it. The procedure was not performed with as
much diligence as I would have wanted. I suffered days of anguish,
waiting to see if I would lose the baby as a result. The karyotype
was normal. But I expected that. I tend to worry about technical
errors. For example, there was a lot of (maternal) blood in the AF,
so it is possible the karyotype is mine, not the baby's. The baby is
female.

With my second baby, a 2nd trimester ultrasound revealed she had a
rare (1:40,000) fetal tumor. That kind of tumor often kills the baby
in utero, so we had the "do you want to terminate?" conversation. We
decided to stay the course. She is now 7 months old, has had major
surgery etc., and so far so good, but we will be on guard against a
recurrent tumor for some years to come. One reason we decided to stay
the course is that I know someone who terminated a pregnancy decades
ago and to this day has deeply ambivalent feelings about it.

I am actually very glad to have discovered the problem as early as we
did. It made for months of anxiety, but also months in which to
research, make a plan, and execute the plan. Rare diseases are a
special challenge, because health care professionals with relevant
experience also are rare.

Pologirl

One other thought. If I have another pregnancy, maybe I will get
karyotyping again. Or maybe not. But I would certainly skip the
screening tests.

Pologirl

"Anne Rogers" wrote in message
. ..
I think you understood the question, I just want to find out about the
stuff that would be fatal, that's going to be obvious if it's some kind of
physical abnormality, but I'm not sure if the other trisomies would show up
on ultrasound, I mean, Downs will often show something up on ultrasound,
but not necessarily enough to make a strong connection. I'm not a medic, so
I'm not sure exactly how t-13 and 18 present and why that makes them
incompatible with life, and therefore whether or not they'd show up on
ultrasound, but I think they are something that the triple test is
screening for.

I guess I'm just going to have to spend sometime getting thoroughly
educated, it was easy previously, I wouldn't do anything regardless, so I
didn't need to know, but knowing how damaging late pregnancy and delivery
was, it just doesn't make sense to carry to full term if the baby isn't
going to make it.

I asked broad questions and got broad answers so my questions are based on
my understanding but may not be right

Ultrasound will pick up heart defects etc. Those are medical issues that
will sometimes accompany downs but just because the heart condition is
there - doesn't mean the baby has downs. I wanted to know about those
medical conditions, if present, so I could make better decisions about where
to delivery. The ultra-sound will often pick up 'soft markers' for downs.
One or two soft markers don't mean much but if you have several soft
markers, downs is more likely. It isn't definite though. The only way to
definitely diagnose downs prenatally is with an amnio. AFAIK the different
trisomies can not be determine by ultrasound. Major organ defects can
though.
--
Nikki, mama to
Hunter 4/99
Luke 4/01
Brock 4/06
Ben 4/06

"Anne Rogers" wrote in message
That sounds horrible, I was given the impression that because the results
did depend so much on dates that it was pretty much a given that you had a
dating ultrasound prior to it. 1 in 10 is low enough to freak most people
out, 1 in 50 is lower than normal (depending on your age), but probably
not low enough to give too much concern, all for the sake of a quick
ultrasound.

They would not tell me the first number until after the second number was
available. I figured it must have been alarming The Level II ultrasound
was done by a very good clinic and tech and they gave me yet another set of
ratios after factoring everything together and it was very reassuring -
somewhere around my age related risk. Even the 1:50 was well below my age
related risk.

As an aside my doctor wondered if perhaps the high blood pressure I had
during that pg affected the test. In hindsight I wonder if that pregnancy
may have started out as a twin pregnancy (they give odd ball results too)
and maybe one vanished before the ultrasound. I don't know if vanishing
twins result in any kind of spotting or what not - never had anything like
that. Maybe it was just a fluke


--
Nikki, mama to
Hunter 4/99
Luke 4/01
Brock 4/06
Ben 4/06

"Anne Rogers" wrote in message
. ..
I think you understood the question, I just want to find out about the
stuff that would be fatal, that's going to be obvious if it's some kind of
physical abnormality, but I'm not sure if the other trisomies would show up
on ultrasound, I mean, Downs will often show something up on ultrasound,
but not necessarily enough to make a strong connection. I'm not a medic, so
I'm not sure exactly how t-13 and 18 present and why that makes them
incompatible with life, and therefore whether or not they'd show up on
ultrasound, but I think they are something that the triple test is
screening for.

I guess I'm just going to have to spend sometime getting thoroughly
educated, it was easy previously, I wouldn't do anything regardless, so I
didn't need to know, but knowing how damaging late pregnancy and delivery
was, it just doesn't make sense to carry to full term if the baby isn't
going to make it.

Cheers

Anne


Okay, gotcha. I don't know the answer to that either -- in terms of various
incompatible with life issues, and whether or not they would tend to show up
on u/s. In general, some serious issues can show up, but even as serious as
they are, they aren't always "cut and dried" fatal. And others may show up
but would be inconclusive as to whether it was what specific syndrom or
trisomy, and the only for sure way to know would be amnio (or CVS, but you'd
be way past CVS time). Potters Syndrom, which is the lack of a liver I
think, would be obvious on u/s, and is fatal I believe. It's one of those
issues that baby can live in utero, but not outside. There may be a few
others like that, where it's obvious that the heart is backwards (and even
that is not fatal) or missing chambers, or something.

The hardest part about all of the testing issues is that even when they have
a definitive diagnosis, such as spina bifida, DS, giant omphalocele (what
Nathan had), or brain issues, it's still not always cut and dried on how the
child will be affected. It could be very very serious, requiring lots of
surgeries to stay alive, and they could die anyway. Or they could have a
relatively easily fixable issue. And sometimes you just can't tell for sure
which way it's going to go until the baby is born.

There are no easy answers, unfortunately. That's why its such a tough
issue.
--

Jamie
Earth Angels:
Taylor Marlys -- 01/03/03
Addison Grace -- 09/30/04

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"Nikki" wrote in message
news:bYadneokqsyV28bbnZ2dnUVZ_jKdnZ2d@prairiewave. com...

"Anne Rogers" wrote in message
. ..
I think you understood the question, I just want to find out about the
stuff that would be fatal, that's going to be obvious if it's some kind of
physical abnormality, but I'm not sure if the other trisomies would show
up on ultrasound, I mean, Downs will often show something up on
ultrasound, but not necessarily enough to make a strong connection. I'm
not a medic, so I'm not sure exactly how t-13 and 18 present and why that
makes them incompatible with life, and therefore whether or not they'd
show up on ultrasound, but I think they are something that the triple test
is screening for.

I guess I'm just going to have to spend sometime getting thoroughly
educated, it was easy previously, I wouldn't do anything regardless, so I
didn't need to know, but knowing how damaging late pregnancy and delivery
was, it just doesn't make sense to carry to full term if the baby isn't
going to make it.

I asked broad questions and got broad answers so my questions are based on
my understanding but may not be right

Ultrasound will pick up heart defects etc. Those are medical issues that
will sometimes accompany downs but just because the heart condition is
there - doesn't mean the baby has downs. I wanted to know about those
medical conditions, if present, so I could make better decisions about
where to delivery. The ultra-sound will often pick up 'soft markers' for
downs. One or two soft markers don't mean much but if you have several
soft markers, downs is more likely. It isn't definite though. The only
way to definitely diagnose downs prenatally is with an amnio. AFAIK the
different trisomies can not be determine by ultrasound. Major organ
defects can though.


And, a DS baby can have no markers on u/s, soft or hard. Of course it's my
belief that if you have a baby with DS that did not show anything on u/s,
than odds are that your baby will be mildly affected, at least in terms of
some of the immediate issues, like heart problems, digestive and bowel
issues, etc. But there are also a lot of issues that are much more likely
to come on later in life with a DS person, so even if they seem to be a
healthy baby, they can still develop major issues down the line.

That's one of the issues for me that's so hard with a diagnosis of DS --
there isn't just one level of DS, there are lots of variations on severity.
Most of the DS people you see on TV (not that there are a lot) or in society
are VERY high functioning and healthy. But there are also lots that are
very very disabled, severely mentally retarded, and with major health
issues, but they aren't usually out and about.
--

Jamie
Earth Angels:
Taylor Marlys -- 01/03/03
Addison Grace -- 09/30/04

Check out the family! -- www.MyFamily.com, User ID: Clarkguest1, Password:
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Jamie Clark wrote:

Okay, gotcha. I don't know the answer to that either -- in terms of various
incompatible with life issues, and whether or not they would tend to show up
on u/s. In general, some serious issues can show up, but even as serious as
they are, they aren't always "cut and dried" fatal. And others may show up
but would be inconclusive as to whether it was what specific syndrom or
trisomy, and the only for sure way to know would be amnio (or CVS, but you'd
be way past CVS time). Potters Syndrom, which is the lack of a liver I
think, would be obvious on u/s, and is fatal I believe. It's one of those
issues that baby can live in utero, but not outside. There may be a few
others like that, where it's obvious that the heart is backwards (and even
that is not fatal) or missing chambers, or something.

The hardest part about all of the testing issues is that even when they have
a definitive diagnosis, such as spina bifida, DS, giant omphalocele (what
Nathan had), or brain issues, it's still not always cut and dried on how the
child will be affected. It could be very very serious, requiring lots of
surgeries to stay alive, and they could die anyway. Or they could have a
relatively easily fixable issue. And sometimes you just can't tell for sure
which way it's going to go until the baby is born.

There are no easy answers, unfortunately. That's why its such a tough
issue.

Yep. On top of all that, there's no guarantee that
even the things that often show up on u/s will, in fact, be
detected. Heart defects, for instance, are missed much more
often than most people imagine. That doesn't mean that u/s
is worthless, but if the goal of u/s is to provide a degree
of reassurance, one has to keep in mind that not only is there
the question of whether u/s *can* detect particular anomalies,
but also the question of *will* it detect an existing anomaly
in any particular case. In other words, a clean u/s is
reassuring, but not a guarantee.

Best wishes,
Ericka

"Pologirl" wrote in message
ups.com...

This is a topic of discussion that comes up rather often here. It is
not unusual.

I have 2 children. As a matter of principle I don't do screening
tests. I know my history, I understand risk and the limitations of
screening tests, and if I think the risk is sufficient and the benefit
of knowing is sufficient, then I go straight for the full test. With
both pregnancies, I met the criteria to be offered screening for
Downs, and to be offered amniocentesis. I declined them all (but see
below).

I had no screening test for Downs with either pregnancy. I thought
about it and decided the risk of Downs and other defects was not a
reason to terminate, hence not a reason to screen. If there were a
problem, there would be signs. And I knew I would have at least one
thorough ultrasound. I generally don't feel a need to try to know in
advance what will happen...and to me a screening test in any case does
not satisfy that need.

As I wrote in another post, this is not always the case. I have a friend
who had a DS baby when she was 28. Because of her age, they didn't offer an
amnio. They did a thorough level II u/s and found nothing wrong. So they
were shocked and suprised when the baby was born and was diagnosed with DS.
Since the baby had no soft or hard markers on the u/s, coincidentally (or
not), she has been VERY healthy, and has had very few of the usual health
issues that seem to go hand in hand with DS. She did have a slow suck which
is typical of DS babies, but even learned to suckle quite well and breastfed
for a long while.

With the second pregnancy, I eventually did have amniocentesis for
full karyotyping. I was pressured into doing the amniocentesis, and I
immediately regretted it. The procedure was not performed with as
much diligence as I would have wanted. I suffered days of anguish,
waiting to see if I would lose the baby as a result. The karyotype
was normal. But I expected that. I tend to worry about technical
errors. For example, there was a lot of (maternal) blood in the AF,
so it is possible the karyotype is mine, not the baby's. The baby is
female.

With my second baby, a 2nd trimester ultrasound revealed she had a
rare (1:40,000) fetal tumor. That kind of tumor often kills the baby
in utero, so we had the "do you want to terminate?" conversation. We
decided to stay the course. She is now 7 months old, has had major
surgery etc., and so far so good, but we will be on guard against a
recurrent tumor for some years to come. One reason we decided to stay
the course is that I know someone who terminated a pregnancy decades
ago and to this day has deeply ambivalent feelings about it.

I terminated a pregnancy for fetal anomolies in 1998, so almost 10 years
ago. It was the hardest decision that I ever had to make, and although
there are till some feelings of sadness and loss, I don't regret my
decision. Although, if faced with the same decision tomorrow, I might chose
to continue the pregnancy, mostly because there have been great advances in
treating giant omphalocele's since we had our diagnosis. But even then,
there are no guarantees. Nathan had some addional heart and spine issues,
so we didn't know if he would have made it to term, or been strong enought
to survive the surgery necessary to fix his defect. I guess one of the
benefits of not terminating is that you'll always know for sure how it
worked out, even if the baby dies in utero or in the first year, etc. But
having chosen terminate, I'll never know if he would have been strong enough
or not. All factors pointed to that direction, but sometimes I think it
would have been easier if it had been more cut and dried.

I am actually very glad to have discovered the problem as early as we
did. It made for months of anxiety, but also months in which to
research, make a plan, and execute the plan. Rare diseases are a
special challenge, because health care professionals with relevant
experience also are rare.

I'm glad you had the time to prepare and find the right doctors and such.
And you are right, having a rare issue makes it hard to find the appropriate
care.

I'm glad that your daughter is doing well. : )
--

Jamie
Earth Angels:
Taylor Marlys -- 01/03/03
Addison Grace -- 09/30/04

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"Jamie Clark" wrote in message
...

Of course it's my
belief that if you have a baby with DS that did not show anything on u/s,
than odds are that your baby will be mildly affected, at least in terms of
some of the immediate issues, like heart problems, digestive and bowel
issues, etc.

That is what my doc said.