- [Narrator] Congratulations on your pregnancy.
If you are like many pregnant women,
you may be having mixed emotions.
Excitement, nervousness, happiness, uncertainty.
You will be asked to make many decisions
in the months ahead. (giddy music)
One of these choices includes whether or not
to do prenatal genetic testing.
The majority of babies are healthy.
However, all pregnancies are at risk for birth defects
and genetic disease.
Approximately two to 3% of babies
are born with a birth defect.
Again, that means the majority of babies are healthy.
There are many factors that influence
the chance for abnormalities in your pregnancy.
For example, your age.
As a woman gets older, the risk for a chromosome abnormality
in the pregnancy increases.
Down syndrome is one type of chromosome abnormality.
Other chromosome abnormalities such as trisomy 13
and trisomy 18 are more rare than Down syndrome.
These conditions are also
much more severe than Down syndrome.
Although the risk for a chromosome abnormality increases
with mom's age, women of any age can have a child
with a chromosome abnormality.
Furthermore, chromosome abnormalities
are just one type of health problem.
If you have a family history of specific birth defects
or you know someone in your family has a genetic disease,
you should discuss this with your OB provider.
This may impact the risk for your pregnancy.
There are tests you can do during pregnancy
to tell you more about the health of your baby.
These tests are optional.
You get to decide whether or not you want this information.
Why might you want testing?
You might feel better with negative or normal results.
You may want time to learn about a health condition
before your baby is born.
If you learned your baby has a chromosome abnormality,
you may make different choices about
where to deliver your baby.
Some women may wish to develop an adoption plan.
Some women may consider ending the pregnancy.
Why might you choose not to have testing?
You may feel you're at low risk.
You may not want to face additional decisions
during the pregnancy if an abnormality was found.
For women considering testing,
there are two types of testing available.
There are pros and cons to both types of testing.
The first type of testing is called screening.
The good thing about screening tests,
they get you more information with no risk to the pregnancy.
Screening tests are done through blood work
and/or ultrasounds.
The downside of screening tests,
they only provide a risk estimate.
The results of a screen can increase
or decrease your concern
for an underlying disease in the baby.
Screening tests cannot make a final diagnosis.
Screening tests may miss some affected pregnancies
or call some pregnancies abnormal when they are not.
If a patient receives abnormal screening results,
additional testing would be needed
to confirm or rule out a diagnosis.
The second type of testing is called diagnostic testing.
The good thing about diagnostic tests,
diagnostic tests can make the diagnosis
of a chromosome abnormality in the pregnancy.
They provide a yes or no answer, not a risk estimate.
Diagnostic tests can test for more things,
including more rare conditions that would be missed
by standard screening tests.
The downside of diagnostic tests,
diagnostic tests require an invasive procedure,
such as chorionic villus sampling, CVS,
in the first trimester,
or amniocentesis, amnio, in the second trimester.
Even though most women who have an invasive procedure
have no complications, there is a small risk of miscarriage
with either of these procedures,
which is less than .5%.
As we said, there's a lot to consider.
It's also important to understand
that no prenatal testing can guarantee a healthy baby.
Some women start with a screening test
and only consider diagnostic testing
if there are abnormal results from a screen.
Other women prefer to go straight to diagnostic testing
for a more certain answer,
or to obtain as much information as possible.
Other people choose to not have any testing or screening.
Take some time to consider these options
and your thoughts on prenatal testing.
Perhaps you might want to discuss these options
with a friend or partner.
Remember, there is no right or wrong answer
when deciding about prenatal testing,
only the answer that is right for you.
If you wish to learn more about available screening tests,
please watch the Screening in Pregnancy video.
If you wish to learn more about diagnostic testing,
please watch Diagnostic Testing in Pregnancy video.