Prenatal Cell-Free DNA Screening (cfDNA Screening)

Prenatal cell-free DNA
screening (also known as cfDNA
screening) is an optional prenatal blood
test that screens for certain
genetic conditions. It can be performed as early as
10 weeks of pregnancy. cfDNA screening goes by many
different names including Noninvasive Prenatal Testing
(NIPT) or Noninvasive Prenatal
Screening (NIPS). You may have heard it referred
to as the new gender test, or be familiar with specific
test brand names. Our blood contains fragments of
our DNA-known as cell-free DNA. When a woman is pregnant, her
blood also contains DNA
fragments from the placenta, that has a genetic make-up that
is usually identical to that of
the developing baby. By analyzing this DNA in mom’s
blood, it can be determined if
there is an increased or decreased chance for certain
genetic conditions in the baby. Though it began as a screening
for Down Syndrome, over time the list of conditions that can
be screened for has grown. Not all cfDNA companies screen
for the same conditions. These conditions are all very
different from one another. It is not always possible to
know before a child is born how
much their health will be
affected. It is important to know that
cfDNA screening cannot detect
all genetic conditions or birth
defects. No test can guarantee the birth
of a healthy baby. Prenatal cfDNA screening is a
screening test that can
determine if the chance of certain genetic conditions
in a pregnancy is higher or
lower. Since cfDNA screening is not a
diagnostic test, it cannot give
you “yes” or “no” answers. If a result indicates ahigh or
increased chance, then a
diagnostic test such as amniocentesis can be
performed, if desired, to determine whether the baby
really has the condition or not. If the results indicate a low
or decreased chance, the
possibility the baby has the
genetic condition is lower, but not
zero. cfDNA screening has been shown
to be more predictive for Down
syndrome compared to other screening
tests such as maternal serum
screening. However, similarto maternal
serum screening, it is possible
to have a cfDNA result indicating a
higher chance of a genetic
condition even though the condition is not present in
the baby. cfDNA screening is performed on
a sample of a pregnant woman’s
blood. While there is no risk for
pregnancy complications such as
miscarriage, it is important to think about
what these test results may
mean for you. Most of the time the test will
come back with a low chance for
a genetic condition and many women feel relief
based on these results. However, if the test indicates
a higherchance of a genetic
condition it may create worry and uncertainty about
what to do next. cfDNA screening has some
benefits and drawbacks when
compared to other screening tests such as
maternal serum screening. Decisions about genetic testing
in your pregnancy should be
based on your own beliefs, values, needs and
personality. See our video, How to Decide
About Prenatal Genetic Testing, as you consider your prenatal
testing options.

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