The FDA issued a warning about the risk of false results, inappropriate use and inappropriate result interpretation with prenatal tests.
Non-invasive prenatal screening (NIPS) tests, also known as cell-free DNA tests or non-invasive prenatal tests (NIPT) look for signs of genetic abnormalities in a fetus by testing a sample of blood from the pregnant person.
According to an FDA release, NIPS tests can provide information about the possibility that a child will be born with a serious health condition, but they are screening tests, not diagnostics, meaning they only provide information about the risk that a fetus may have a genetic abnormality. Additional testing may be needed to confirm whether a fetus is affected.
All NIPS tests on the market are offered as laboratory-developed tests (LDTs) and most LDTs, including NIPS tests, are offered without FDA review. The FDA said it continues to work with Congress on legislation to establish a modern regulatory framework for all tests, including LDTs, as the agency does not generally enforce applicable regulatory requirements for most of them.
The FDA said that it is concerned with claims of laboratories offering the tests as “reliable” and “highly accurate” while providing “peace of mind for patients.” The agency said these claims may not be supported with sound scientific evidence.
Patients and healthcare providers are warned of risks and limitations with using NIPS tests, as the FDA is aware of reports that they have made critical healthcare decisions based on results of the screening tests without additional confirmatory diagnostic testing, meaning patients have ended pregnancies based on results of the screening without understanding the limitations.
The FDA recommends that patients and providers discuss benefits and risks of such testing with a genetic counselor or other healthcare providers before considering such testing or making decisions on the pregnancy.
“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,” FDA Center for Devices and Radiological Health Director Dr. Jeff Shuren said in the release. “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.”
