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3. How have people decided whether the tests are worthwhile for them?




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This article is from the Pregnancy Screening FAQ, by Lynn Gazis-Sax (gazissax@netcom.com) with numerous contributions by others.

3. How have people decided whether the tests are worthwhile for them?

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From Trish Jalbert (tjalbert@best.com):

I really think that anyone who does do these tests and finds out that
they are at risk of or are carrying a baby with a birth defect should
educate themselves through literature rather than the word of medical
staff so they will learn the whole truth about the situation. I took
the AFP, which I had heard was a very unreliable test. I came up at
being at increased risk for a Down Syndrome- I am 25, so it went from
something like 1 in 1500 to 1 in 33.
Still, I rationalized that that was a 3% risk. And they could not
see any of the tell-tale features with an ultrasound-slightly short
legs and skin folds on the back of the neck (these go away as the
baby grows). I find that ironic, as Miranda has both! Two people I
have met since her birth who have babies with DS came up with no
increased risk. And lest all you young people think you are immune-
more babies with DS are born to moms who are younger rather than
older, since more babies are born to younger women period. It's just
that the risk is higher as you age. After this, and a genetic
counselor who told me that since I had felt her kick already and "you
don't feel DS babies kick until really late" - big myth- I didn't
have an amnio. We decided not to because we would have kept her
anyway and we figured there was no point in risking it. Some people
might want to know, however. I also took the other test, which shows
if you have a kid with neural tube defects and such. I was far more
concerned with that kind of stuff for some reason.
I also had 4 ultrasounds, due to one reason and another- it was a
difficult pregnancy for reasons unrelated to the DS. Ultrasounds are
great- no risk to anyone, lots of info. Besides, you get cute
pictures of your baby swimming around in there.
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Anonymous response 2:

We decided we mainly wanted to be prepared if something was going to be
wrong with our baby. That is why we had pre-natal tests. I would do
so again in any future pregnancies. I particularly feel ultrasounds are
valuable as the dr. can detect if the baby is not growing correctly, etc.
and also get a better idea as to estimated due date.
-----------------------------------------

From Maurine Neiberg (maury@turing.eecs.uic.edu):

We actually went through two rounds of thinking about prenatal
testing. There's Cystic Fibrosis in my mothers family (2 of her
cousins have it, and there were different presentations of the
disease). I highly recommend getting tested for genetically linked
diseases before you get pregnant. It turns out that CF is the most
common genetically linked disease. In the Caucasian population CF
occurs in 1 in 2000 births. In the general population, the chance of
being a carrier of the CF gene is 1 in 22. There are 400 different
genetic mutations responsible for CF, but labs only test for (approx.)
the most common 25 or so mutations for your ethnic group. This
testing detects approx. 89.1% of mutations. If you have CF in your
family, there is greater risk, and you are best off if you can get
ther records of any genetic testing the affected person or people have
had. If you know which mutation to look for, you can absolutely test
for it. Unfortunately, my relative with CF who is still living was
either unable or unwilling to provide us with the information, so we
just tested for the usual mutations. This is the other reason to
think about testing before the pregnancy, since it'll give you more
time to access your relatives medical records. There aren't many labs
in the U.S. that do genetic (as opposed to chromosonal) testing. Ours
were sent to Baylor, and we're still trying to get payment figured
out. Even though there is only CF in my family, the genetics
department here at Northwestern highly recommended that both of us be
tested, and if only one of us were to be tested, it should be my
husband, since we could be more sure that way. Genetic testing for CF
cost $125 for each genetic analysis. We both tested negative for CF,
and we got results when I was 15 weeks pregnant.

Aside: A friend of mine who is now pregnant realized at her first
prenatal visit that, since she is of French Canadian heritage that she
could be a Tay Sachs carrier. Being Catholic, it hadn't ever occured
to her. Her genetic counsellor told her that the test for being a Tay
Sachs carrier is not reliable during pregnancy, so if her husband is a
carrier, they should test the baby. It would be interesting to hear
what others have to say about this.

We also did the Triple-Screen, or what my practice calls a Pan-MSAFP
at 15 weeks. It came back (4 days later) with an elevated risk for
Downs Syndrome. I'm 30, so the apriori risk for Downs was approx. 1
in 750. The aposteriori risk was 1 in 210. We had thought carefully
about how we felt about prenatal testing, and being trained
scientists, understand the aprior and aposteriori risk assessment. I
was sort of ambivalent about the triple-screen, but felt strongly that
if it came back "bad" that we would do the amnio. I was suprised at
how upset I was about the test results and about the amnio, since we
had made the decision to do it much earlier. I think it was in part
because the risk was so close to the risk of something bad happening
from the amnio. We got the call about the Pan-MSAFP on Friday at
5:00, and thus had the whole weekend to fret about it. Our midwife
told us to call her over the weekend, which helped some. It was her
assesment that a level-2 U/S wouldn't take the place of amnio, and
would be inconclusive at best, and that we were best off just doing
the amnio and spending less time at the hospital. In retrospect, I
think that she was absolutely right.

We scheduled the amnio for Wed. morning. There were 3 couples going
through this at once. They showed us a silly video that explained in
very simple terms what is tested for and what is not, and what the
procedure entails. We then all met with a genetic counsellor to
answer general questions. We then split up for individual genetic
counselling. At this point, we got to see the precise results of the
triple-screen. The AFP itself was normal-high, and actually
_decreased_ the risk of Downs. uEstriol gave us a slightly elevated
risk of Downs, but the HCG is what changed the odds so much. It made
me feel better to get all of the data.

BTW, our genetic counselling was done by the head of the Genetics
Department, in part the first time and in full the second time, and
telling him that my husband is a mathematician helped us get more
information. He also asked if I'd participate in a study they are
doing to find fetal cells in maternal blood. They are looking for XY
chromasomes in maternal blood and verifying with the amnio results.
We were the only couple of the 3 who were asked to participate, but we
may have been the most outwardly calm.

We read and signed an informed consent form, which asked us in two
different places wheter or not we wanted to know the sex of the baby,
and if we wanted our practitioner to know. We decided against
knowing, though my husband was definitively voting the other way. The
informed consent form said that the risk from the amnio is 1 in 200,
or .5%. We were told that Northwestern's results were actually better
than that, as are the results in any teriary care center where they
have a dedicated amnio team who does a lot of amnios, but the American
College of Obstetrics and Gynecology (and perhaps the state) requires
them to provide the 1:200 number on their informed consent form.

Apparently this is different in New York City. A friend of mine who
is 33, with an apriori risk of Downs of 1:600 was told that the risk
of the amnio was the same as her apriori risk. I'm not sure if my
friend got it right, or if she only heard what she wanted to hear.

After the genetic counselling, we joined many people, including the 2
other couples we started with, in the U/S waiting room. After about
45 minutes, we were put in an U/S room, and the U/S tech did a very
thourough U/S, though she kept stopping the action, so I was convinced
that the baby wasn't moving. The U/S was projected only a large TV
suspended from the ceiling, so my husband was out of the way, but
could see everything. Then the Amnio doctor came in, found a spot
above the baby's head, tapped me, which I could see on the amnio, and
then prepped me. Amnio is an invasive procedure, so they try to have
a sterile area. I was draped, and my stomach scrubbed, though I
didn't have to undress. The doctor tapped again, and then
administered a local anesthetic. The anesthesia is only for my skin
and abdomine, and was not administered to the uterus, because they
don't want the baby to be anesthitized. So when he inserted the amnio
needle, which is huge (I primarily looked at the U/S, not at me) I
didn't feel anything until he hit my uterus. Then it hurt. He said
that it would be no worse than menstrual cramps, but this was a sharp
pain, and I could feel the needle go through the uterus. Unlike when
they take blood, I could not feel the amniotic fluid leave me. It was
over very quickly. They told us about warning signs, and the doctor
squrted some amniotic fluid on my fingers so that I could tell the
difference between leaking amniotic fluid and urine. It looks like
urine, (it's pale yellow) but has no real odor.

The real danger in amnio is infection of the amniotic fluid. All risk
of that is gone in 3 weeks. The other fear is leaking amniotic fluid.
If all of the fluid leaks out, the baby will be stillborn. I leaked a
very small amount, very slowly, and immediately went to the midwife's
office. The U/S showed lots and lots of amniotic fluid, and that my
cervix was tightly closed. I was told that if I was still leaking in
2 days to come back. The leaking stopped that night.

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Anonymous response 3:

I had three ultrasounds, mostly because my ob/gyn is an ultrasonographer.
None of the ultrasounds caught that my daughter is missing her left
arm below the elbow from amniotic banding.

I am glad I didn't know, because I would have worried that the missing
hand&arm was just the tip of the iceberg, and that she had a whole
bunch of other things wrong with her. I have been told that it is
actually more common for a distal limb defect to be one part of a
larger genetic problem, than for it to be an isolated problem.
Amniotic banding occurs in about 1 every 5,000 to 10,000 births. I
assume you are familiar with this--if not, email me and I will send an
explanation.

In any future pregnancies, I plan on having a level 2 US, just
for peace of mind. I'm not worried about this problem repeating
itself, becauseI consider it to be a minor one. I'm more worried
about something else being wrong.

Once you have a baby who is not textbook perfect, it makes you feel
very vulnerable. You no longer have that "it could never happen
to me" safe feeling. It is as if the door to birth defect city
has been opened, and now anything could happen.

-----------------------------------------
Anonymous response 4:

We've decided to go with the ultrasound alone. While there are no risks
associated with the AFP, we wouldn't know what to do with a positive
result other than worry. (We don't want to do an amnio, and we certainly
wouldn't abort given just the [highly unreliable] AFP.) If something is
drastically wrong, it will probably show up on the ultrasound. Else,
we'll just have to cross that bridge when we come to it.

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Anonymous response 6:

I'd say with my first pregnancy that we were just naive and in awe of
the process we were going through. My doctor didn't PUSH the AFP, but
I went ahead and had it. It came back "borderline" high. Retest was
the same. We went through a lot after that (although not near as much
as some people, I'd say), and our first response to the possibility of
having the test with a subsequent pregnancy was NO. But, overall, we
feel like we truly did gain information, and while we didn't have to
go so far as deciding whether to abort or not, I think it was a first
step in preparing us for the problems we were to face (premature
birth).

-----------------------------------------
Anonymous response 7:

For us it was a combination of things. We decided to have a US done for
the following reasons:

a) fetal age. The doctor was insisting that I was X weeks pregnant,
even if I was measuring a little small. I said I didn't think so,
because I have genetic amenorhea, and I showed zilch for symptoms
during the first eight weeks, according to his date.

b) my fiance' had spent several years guarding nuclear missles in the
military, at levels an order of magnitude higher than what is
acceptable now.

c) He also went to desert storm, along with the full compliment of
shots. We had both heard that some nasty anomalities (like missing
limbs) had been occuring in the desert storm babies.

-----------------------------------------
From Dena Rollo (rollo@xylogics.com):

I was 37 when Isabel was born, and did not even consider not having
amnio done - I really wanted the information and the reassurance; fully
expected to find out that the baby was perfectly healthy; and was
sure that I'd choose to terminate the pregnancy if we found out
otherwise. I also *really* wanted a girl, as did Michael (my partner),
and I wanted to know the baby's gender, in order to prepare myself
so I'd feel positive about a boy if that's what it was. But Michael
didn't want to know gender, so I agreed to not find out.

-----------------------------------------
Anonymous response 8:

I decided to get the amnio based on my age (36 at the time) and
the fact that I was single: if there was anything wrong, knowing
about it ahead of time would give me a chance to prepare.

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Anonymous response 9:

At my visit, around week 12, the Specialist gave me a form and told me that some
more routine blood tests were required. I was told to go and have
the test done at the 17th week. This was rather confusing for me,
because I did not agree with his method of calculating the pregnancy
dates. I ovulate on the 21st day of my cycle, and pregnancy is
always calculated from the LMP. So, I had the test done at 16 weeks,
not 17. As I was unaware of the high outcome of false positives and
negatives, I opted for the test, as I would have the pregnancy
terminated if the baby was downs or had spina bifida.
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previous page: 2d. What are some sources of more information about the disabilities which these tests detect?
  
page up: Pregnancy Screening FAQ
  
next page: 4. Are there benefits for people who would not abort, and, if so, are they large enough to be worth doing the test?