Risk of False Results with Certain Prenatal Genetic Screening Tests

By MedTech Intelligence Staff

FDA has issued a safety communication to alert patients and healthcare providers about the dangers of inappropriate use of NIPS tests.

The FDA is warning the public about certain non-invasive prenatal screening (NIPS) tests that could generate results that lead to uninformed decision making. There is a risk of false results with NIPT tests that look for genetic abnormalities in a fetus via testing a blood sample, and the agency has stated that these screening tests are not diagnostic tests. “They only provide information about the risk that a fetus may have a genetic abnormality, and additional testing may be needed to confirm whether or not a fetus is affected,” the agency stated in the alert.

“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,” said CDRH Director Jeff Shuren, M.D. “Without proper understanding of how these tests should be used, people may make inappropriate healthcare 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.”

The FDA has urged patients against the use of NIPS tests as a sole source to make decisions that affect a pregnancy, because these tests may not accurately reveal a genetic abnormality in a fetus. They also recommend discussing any results with a genetic counselor or healthcare provider. Likewise, the agency is also recommending that healthcare providers not use these tests alone to diagnose chromosomal abnormalities or disorders.

What are NIPS Tests?

“Noninvasive prenatal screening (NIPS) tests analyze small fragments of fetal DNA, called cell-free DNA, that are circulating in a pregnant person’s blood with the goal of determining the risk that the fetus has certain genetic abnormalities. When used appropriately, these tests offer a non-invasive approach for prenatal screening and may provide useful information to assess the risk that a fetus has (or does not have) a genetic abnormality. It is important for patients and health care providers to be aware that these are screening tests, not diagnostic tests, and to understand the benefits, risks, and limitations of these tests.” – FDA

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