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Down syndrome affects one in every seven
hundred babies born each year in the
United States and now thanks to advanced
breakthroughs there's a non-invasive
screening option called NIPT, here to
talk about this fairly new approach to
prenatal testing from Alumina is genetic
counselor Patty Winters.
Thank you for
being here Patty.
Thank you.
Okay, so before we even get into what NIPT is.
Tell us a little bit about the difference
between a screening test and a
diagnostic test.
A screening test is a test that
can tell us if there's a higher or a
lower chance for certain medical conditions
in a pregnancy, whereas the
diagnostic tests usually a CVS or amniocentesis
during pregnancy actually samples from
the pregnancy and can tell us yes or
no with as much certainty as possible
whether those conditions are present.
NIPT is a type of screening test where we
actually draw blood from a woman's arm
and in her blood there is some cell free
DNA from both herself and from the
pregnancy and by analyzing that cell free DNA
we're able to determine if there's a
higher or lower chance for certain
conditions in the pregnancy.
So some women will choose
to have a screening test to get that
information before deciding whether to
have a diagnostic test because the
diagnostic test carries a risk of
complications including pregnancy loss.
So what does NIPT screen for?
It screens
for changes in the number of certain
chromosomes so most commonly we talk
about Down syndrome which is trisomy 21
which is an extra copy of chromosome 21
but NIPT also screams for trisomy 18
which is also called Edwards syndrome
and trisomy 13 which is also called
Pito Syndrome and it also looks at the
sex chromosomes to see if there's any
missing or extra sex chromosomes.
So Patty, I shared with you before, my husband and I
are trying to have a baby.
And at this point in my life, I'm
considered at advanced maternal age.
So is this test specifically for women
of advanced maternal age or are
there other candidates?
So we know that these conditions can
occur in any pregnancy.
So there's a change for these
with every pregnancy that any woman has but as you mentioned,
there are pregnacy's that have a higher chance for these
conditions.
based on things like, how old a mom is
or her pregnacy history or her family history but
because these conditions can occur in any pregnancy,
The American College of Obstetricians and
Gynecologists actually recommends that
all women during pregnancy be offered
screening and diagnostic testing options
for these chromosome conditions.
So Patty what are some of the advantages
of NIPT and in terms of the technology
how accurate is it?
NIPT is actually an
improvement on some of the older serum
screening options so historically serum
screening options had a false positive
rate which means the woman gets her
blood drawn and gets a positive result
but the pregnancy is actually not
affected and that happened in about 1 in
20 women with NIPT the false positive
rate for Down syndrome is closer to 1 in
1,000 so we're greatly reducing the
number of women who are receiving these
false positive results which means that
fewer women are being offered diagnostic
testing and are avoiding the complications associated with
those procedures such as potential
miscarriage.
So for women who are thinking about
having an NIPT is there anything else you
need to know before we do this?
I think it's important for women to
understand that these tests are optional so
that it's volunteer it's your
decision if you want to have any of these
screening or diagnostic tests during
pregnancy, secondly it's important to
remember that we're only screening for certain
conditions so we're not looking for all
genetic conditions and we're not looking for all
birth defects which means that a
negative result is very reassuring but
it won't tell us for sure that the
pregnancy is developing healthy, and then
finally it's important to remember that
there's different laboratories that
offer NIPT and that these might differ
so you need to find out what is your
specific test going to tell you how does
that specific test perform and what is
the chance that you won't get a result
or that you'll have a failed test
through that laboratory so it's really
important to have a conversation with
your doctor make sure that you choose
the test that's going to give you fast
and reliable results most often.
Yes a little peace of mind what a
future parent doesn't want a little bit
of that.
Thank you so much for being here Patty.
Thank you.
And if you want more information about non-invasive
prenatal testing you can go to Alumina
dot com, ask your doctor, or of course you
can always visit our website
thebalancingact.com for more.
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