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Scene 5: Prenatal Testing
I’d like to know about
prenatal diagnosis for
Down Syndrome.
You’ll have a choice
between chorionic
villi sampling (CVS)
and amniocentesis.
Chronic Villi Sampling (CVS)
• 1st trimester
• Chorionic villi
(fetal cells)
scraped off &
suctioned
• Cells and
chromosomes
examined
• Danger: 1%
death rate
Amniocentesis
• 11th-18th week of
pregnancy
• Amniotic fluid &
shed fetal cells
obtained
• Chromosomes can
be studied
• Danger: 1 in 200 risk
of miscarriage
Scene 5: Prenatal Testing
Can ultrasound detect
a cleft lip? Kristie’s
cleft lip was
Nofrightening
that’s ok. and I am
With amniocentesis,
Hemophilia
doesn’t
anxious
about
how can
I beitsure that
show,
you know,
like
occurring
in another
the needle
won’t hit
being
short or
child.
the baby?
something.
Ultrasound
We can test
is used
for
along
Down
with
Syndrome, but
amniocentesis
we can use CVS
to to
help
testtofor
guide
hemophilia
the
placement
since youof
are
the
a
needle.
carrier.
Ultrasound
•
•
•
•
Uses sound to visualize the fetus
Like sonar: sounds waves echo to produce an image
May help ID age, multiple fetus’, complications
No risk
I was a fashion model,
and my daughters are
all model material.
Even though Kristie’s
cleft lip was fixed, I
don’t want to chance
it with another child.
Models
have to be
Can
it determine
the
perfect.of the baby?
gender
Prenatal Testing
Sometimes, but
chromosome analysis can
do a much better job at
Ultrasound
cannot
that. If you’re
concerned
guarantee
the
of having
a boy with
detection
of test
cleft
hemophilia,
we can
lip.
that directly.
Prenatal Testing
No. I don’t care about
hemophilia. I want to
know
if I’mtesting
carrying a
If prenatal
boy
or a girl
my
indicates
thatbecause
I’m
husband
me that
carrying atold
female,
I willif I
don’t
give the
him a son,
terminate
he’ll
find another
pregnancy.
woman who will.
I don’t feel this is
appropriate use of
this technology, but
she has the legal right
to have the test and
to utilize the results as
she pleases.
Prenatal Testing
“…while most women would be happy
with another girl, my husband will
leave, and I’ll probably have to go back
to work. I’d hate this girl. I’d probably
Howmyself.
long will
take to kill myself. So
hate
I’d it
probably
getsee,
my test
results?
I’d
you
I have
my reasons,
and they’re
likeastoselfish
know as
as you
quickly
not
might think.
as possible.
It routinely takes 7-10 days for
chromosome results. But in
some cases, we can do an
investigative test – called FISH –
that might tell you what you
want to know in 3 days. But this
is a research test. There are
many conditions.
Prenatal Testing
I just wish there was a
way to get this
information without so
much fuss.
are
It seemsWell,
that,researchers
during pregnancy,
on acells
waywind
to
some ofworking
the baby’s
the unborn
up in thetest
mother’s
bloodbaby’s
byto
stream. chromosomes
There may be ajust
way
drawing
of
take a sample
ofaasample
woman’s
blood
blood, pick
outfrom
the the
fetalmother.
cells,
and test them directly. But
we’re not there yet.
Scenario continued
Martha decides to have a routine amniocentesis at 15 weeks.
Norman refuses to attend any of the counseling or testing sessions with his wife
but is pleased that his wife is carrying a boy.
A boy! Oh thank God. I
don’t want to test for
hemophilia. But I want
to repeat the ultrasound
to try and identify a cleft
lip or palate.
Bout time
she’s
having a
boy.
The chromosome
testing has revealed a
46, XY karyotype.
Essay #4
• If there is a known genetic disorder in one or more
individuals in her or her husband’s family, should a
pregnant woman be required to have prenatal
testing done to determine whether her unborn
child carries the disorder? Give reasons for your
answer.
•
Essay Format:
– Ink or typed (no pencil)
– Add title and date
– Minimal length = ¾ page
– If typed: 1” margins, 12-point times new roman font, double spaced.
– Complete essays (Introduction, body, conclusion)
– Spellcheck and proofread