The U.S. Food and Drug Administration (FDA) is warning patients and healthcare providers about the risks of false results with genetic noninvasive prenatal screening 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 noninvasive approach for prenatal screening, and may provide useful information to assess the risk that a fetus has (or does not have) a genetic abnormality.
The NIPS tests currently being offered are marketed as laboratory developed tests (LDTs). Most LDTs, including NIPS tests, are offered without FDA review. The accuracy and performance of NIPS tests have not been evaluated by the FDA, and these tests can give false results, such as reporting a genetic abnormality when the fetus does not actually have one. NIPS tests are screening tests, which means the NIPS test may only tell the risk of the fetus having certain genetic abnormalities. They are not diagnostic tests.
The FDA is aware of reports that patients and healthcare providers have made critical healthcare decisions based on results from these screening tests alone and without additional confirmatory testing. Specifically, pregnant people have ended pregnancies based only on the results of NIPS tests. 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 FDA recommends that providers:
Discuss the benefits and risks of prenatal tests, including genetic screening tests such as NIPS tests, with patients.
Do not use the results of screening tests such as NIPS tests alone to diagnose chromosomal abnormalities or disorders.
Ensure that patients receive the appropriate follow-up testing and care, including genetic counseling, as needed.
U.S. Food and Drug Administration (FDA). Genetic Non-Invasive Prenatal Screening Tests May Have False Results: FDA Safety Communication. April 19, 2022. Available at: click here. Accessed April 20, 2022.