FDA issues warning about risks of noninvasive prenatal screening

The FDA is warning the public about the risks for false results and inappropriate interpretation of results from noninvasive prenatal screening tests, which could lead to “improper medical decisions,” according to the agency.

Noninvasive prenatal screening (NIPS) tests can provide information on the possibility that a fetus may have a genetic abnormality, but the FDA stressed that these are not diagnostic tools and additional testing is needed to confirm abnormalities. Despite this, the FDA has received reports that patients have ended pregnancies based on the results of NIPS alone, without understanding its limitations.

“While genetic noninvasive 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 a press release. “Without proper understanding of how these tests should be used, people may make inappropriate health care decisions regarding their pregnancy.”

Scientific literature strongly supports the use of confirmatory diagnostic testing for chromosomal abnormalities, according to the FDA. Research on NIPS, including 25 peer-reviewed publications evaluating more than 10,000 individuals, suggests that NIPS tests generally perform well for ruling out health conditions caused by chromosomal abnormalities, such as Down syndrome and DiGeorge syndrome. However, the FDA said that the reliability of positive screening results is limited. While the positive predictive value of NIPS testing is about 90% for Down syndrome, it is much lower for microdeletions, ranging from about 2% to 30% depending on the condition, according to the FDA.

The American College of Obstetricians and Gynecologists recommends against the use of NIPS tests to detect microdeletions.

In response to the FDA’s warning, Christopher Zahn, MD, chief of Clinical Practice and interim chief of Health Equity and Quality at ACOG, issued a statement about the importance of patient-provider discussions on the risks and benefits of NIPS.

“Counseling should be performed in a clear, objective and nondirective fashion, allowing patients sufficient time to understand and make informed decisions regarding testing,” Zahn said. “All patients, regardless of maternal age or baseline risk, should be offered both screening and diagnostic tests and all testing for chromosomal abnormalities should be an informed patient choice based on provision of adequate and accurate information, the patient’s clinical context, accessible health care resources, values, interests and goals.”

References:

• ACOG statement on FDA warning on genetic noninvasive prenatal screening tests. https://www.acog.org/news/news-releases/2022/04/statement-on-fda-warning-genetic-non-invasive-prenatal-screening-tests. Published April 20, 2022. Accessed April 20, 2022.
• FDA warns of risks associated with noninvasive prenatal screening tests. https://www.fda.gov/news-events/press-announcements/fda-warns-risks-associated-non-invasive-prenatal-screening-tests. Published April 19, 2022. Accessed April 20, 2022.
• Genetic noninvasive prenatal screening tests may have false results: FDA Safety Communication. https://www.fda.gov/medical-devices/safety-communications/genetic-non-invasive-prenatal-screening-tests-may-have-false-results-fda-safety-communication. Published April 19, 2022. Accessed April 20, 2022.