FDA Warns of False Results with Prenatal Genetic Screening Tests

The U.S. Food and Drug Administration issued a new warning about common prenatal genetic screening tests that are done for abnormalities, ABC News reports.

The FDA warned people about the risks of “false results, inappropriate use and inappropriate interpretation of results” from specifically non-invasive prenatal screening tests. 

The tests are also known as non-invasive prenatal tests and cell-free DNA tests. 

The tests screen for possible genetic abnormalities in fetuses. Potential abnormalities include health conditions such as Down syndrome. 

The FDA issued in its warning a reminder that prenatal tests are screening tests, not diagnostic tests, which would confirm health conditions. 

Director of the FDA’S Center for Devices and Radiological Health, Jeff Shuren, M.D., J.D., said in a statement that while these tests are used widely today, they have not been reviewed by the FDA, and may be making claims about their performance and capabilities that “are not based on sound science.” 

Shuren continued that without a proper understanding of how the tests should be used, people are vulnerable to making “inappropriate health care decisions” regarding pregnancies. He said the FDA strongly urges patients to discuss the benefits and risks of tests with a licensed genetic counselor or other healthcare providers before they make decisions on the results of the tests.  

In the U.S., an estimated 25 to 50 percent of pregnancies undergo non-invasive prenatal screening tests. 

The tests are up to 99 percent accurate for screening specific diseases like Down syndrome and are done by taking a blood sample from the pregnant individual. In conjunction, an ultrasound of the fetus is typically taken as well. 

Doctors say that the FDA warning centers on the fact that the initial screening test is not 100 percent accurate, and therefore, the FDA is worried that people could make decisions about whether to continue with a pregnancy based on the result. 

Doctors and health experts echo the FDA’s advice that non-invasive prenatal genetic screening tests need to be analyzed by a qualified medical provider.