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FDA Warns About Potential False Positives from Non-Invasive Prenatal Screening Tests

April 25, 2022

The U.S. Food and Drug Administration is warning patients and healthcare providers about the risks of false results with genetic non-invasive prenatal screening tests (NIPS) saying that none of these widely used test have been approved by the FDA and they have not been reviewed for accuracy.

The tests, also referred to as noninvasive prenatal testing or tests (NIPT) can provide information about the possibility of a child being born with genetic abnormalities that can cause serious health conditions.

The agency said these tests can give false results, such as reporting a genetic abnormality exists where there is not one. The agency said it is aware of reports where, based only on these tests, pregnant women have terminated pregnancies.

“Without confirming the results with a diagnostic test, there is no way to know whether the fetus actually had the genetic abnormality reported by the screening test,” the agency said. “The FDA is aware of cases where a screening test reported a genetic abnormality and a confirmatory diagnostic test later found that the fetus was healthy.”

The agency said it recommends that patients discuss the benefits and risks of NIPS tests with a genetic counselor or other health care provider before deciding to get these tests. Patients should also discuss the results of NIPS tests with a genetic counselor or other health care provider before making any decisions about their pregnancy. Health care providers should be aware of the risks and limitations of using these screening tests and should not use the results from these tests alone to diagnose chromosomal (genetic) abnormalities or disorders.

The FDA recommends that patients talk to a genetic counselor or other healthcare provider before deciding to have prenatal testing and to discuss which tests to use, including genetic screening tests such as NIPS tests.

It also said patients should not use the results of screening tests such as NIPS tests alone to make decisions about their pregnancy because the results of these tests may not accurately reflect whether the fetus has a genetic abnormality. Additional testing may require invasive procedures to obtain a sample, such as amniocentesis or chorionic villous sampling (CVS), which carry a small risk of miscarriage. The diagnostic confirmatory tests performed on these samples may not have been reviewed by the FDA.

The ability of a NIPS test to correctly tell whether a fetus is at risk for a genetic abnormality depends on how common or rare the genetic abnormality is and on underlying risk factors. Disorders caused by a microdeletion (small missing piece of a chromosome) are rare. Because these conditions are so rare, a positive result may be more likely to be from a healthy fetus than one that actually has the reported genetic abnormality.

Author: Rare Daily Staff

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