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FDA ISSUES WARNING ABOUT FALSE RESULTS WITH PRENATAL GENETIC SCREENING TESTS

The tests look for genetic abnormalities in a fetus, according to the FDA.

ByKatie Kindelanvia
20 April 2022, 16:57
• 5 min read
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FDA warns about some non-invasive prenatal screening tests

The agency is warning pregnant women against having the tests without consulting
a ge...Read MoreRead More
STOCK PHOTO/Getty Images

Common prenatal tests done to test for genetic abnormalities are the subject of
a new warning from the U.S. Food and Drug Administration (FDA).

The FDA issued a notice Tuesday warning people about the risk of "false results,
inappropriate use and inappropriate interpretation of results" from non-invasive
prenatal screening tests, also called non-invasive prenatal tests and cell-free
DNA tests.



The tests are used to screen for possible genetic abnormalities in fetuses that
could indicate the possibility of a health condition like Down syndrome, a
condition in which a person has an extra chromosome, which changes how a baby's
brain and body develop, according to the Centers for Disease Control and
Prevention (CDC).

In its new warning, the FDA reminds people that the prenatal tests are screening
tests, not diagnostic tests that would confirm a health condition.

"While genetic non-invasive prenatal screening tests are widely used today,
these tests have not been reviewed by the FDA and may be making claims about
their performance and use that are not based on sound science," Jeff Shuren,
M.D., J.D., director of the FDA's Center for Devices and Radiological Health,
said in a statement. "Without proper understanding of how these tests should be
used, people may make inappropriate health care decisions regarding their
pregnancy."

"We strongly urge patients to discuss the benefits and risks of these tests with
a genetic counselor or other health care provider prior to making decisions
based on the results of these tests," said Shuren.


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The prenatal screening tests that are the subject of the FDA's warning are
standard in prenatal care in the United States, according to Dr. Jennifer
Ashton, ABC News chief medical correspondent and a board-certified OBGYN.


MORE: Study links high pre-pregnancy body mass index with increased infant
mortality rates

The American College of Obstetricians and Gynecologists (ACOG) recommends that
prenatal genetic screening options should be made available to "all pregnant
patients regardless of maternal age or risk of chromosomal abnormality."

In the U.S., 25% to 50% of pregnancies undergo non-invasive prenatal screening
tests, according to data published in the medical journal Obstetrics &
Gynecology

STOCK PHOTO/Getty Images
A pregnant woman is seen here with her dr in this undated stock photo.

.

The screening tests, which are up to 99% accurate for screening out diseases
like Down syndrome, are done by taking a blood sample from the pregnant woman.
An ultrasound of the fetus is typically done in conjunction with the screening
tests, according to Ashton.

If the tests flag an increased risk that the fetus may have a problem with its
chromosomes, more testing will be done, either via an amniocentesis -- a
procedure in which a small sample of amniotic fluid is removed for testing -- or
chorionic villus sampling (CVS), in which a small piece of tissue is removed
from the placenta for further testing.

MORE: Family fights for genetic screening to save others from muscle-wasting
disease afflicting their toddler

Ashton said the FDA's warning centers on the fact that the initial screening
tests are not 100% accurate, explaining, "What the FDA is worried about is that
women may make incorrect decisions about continuing their pregnancy based on
this result."

Both Ashton and ACOG stress that the results of non-invasive prenatal screening
tests should be analyzed by a qualified medical provider, and that pregnant
women should be in close touch with their provider about the results.

"This is a perfect example -- anyone can do a test. It's using the results of
that test, which requires medical credentials and judgment and experience, that
matters," said Ashton. "So a woman should talk to their midwife, their
obstetrician about what to do with the results of this test."

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