FDA Warns of False Results With Non-Invasive Prenatal Screening Tests

FDA recently warned the public of the risk of false results, inappropriate use, and interpretation of results with non-invasive prenatal screening (NIPS) tests. 

NIPS tests look for signs of genetic abnormalities in a fetus by testing a blood sample from a pregnant person. FDA is providing the risk information to educate patients and healthcare providers and reduce the inappropriate use of NIPS tests, given their increased usage and recent media reports.  

“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, MD, JD, director of the FDA’s Center for Devices and Radiological Health, said in the announcement.  

“Without proper understanding of how these tests should be used, people may make inappropriate health care decisions regarding their pregnancy,” Shuren continued.  

All NIPS tests are offered as laboratory-developed tests (LDTs). Most LDTs, including NIPS tests, are provided without FDA review. Generally, the agency does not enforce applicable regulatory requirements for most LDTs.  

Many laboratories claim these tests are “reliable” and “highly accurate.” But FDA is concerned that these claims are not supported by reliable scientific evidence. 

And while these laboratories state that their tests are highly accurate, there are notable limitations due to the rarity of some of the conditions. For example, a false-positive screening result is much more likely than a true-positive screening for a rare condition. And the fetus may not be affected at all.  

In other cases, a positive screening result may accurately detect a chromosomal abnormality. But the abnormality is present in the placenta and not in the fetus, which may be healthy, FDA noted. 

Patients and healthcare providers should be aware of the risks and limitations of using these generic prenatal screening tests and not use them alone to diagnose chromosomal abnormalities.  

Therefore, the agency recommends that patients and providers discuss the benefits and risks of prenatal genetic testing, including NIPS tests, with a genetic counselor or healthcare provider before considering this testing or making any pregnancy decisions.