Skoufis Pushes for More Transparency in Accuracy vs. False Positive Prenatal Screening Results

Skoufis says studies show prenatal screening can have as

many as 85% to 90% false positive results

Hey Neighbor, 

For anyone, pregnancy can be a time of hope, and sometimes worries. Knowledge is essential in empowering patients to make informed decisions about their pregnancies. To meet the demand for additional information, companies have been expanding the list of prenatal genetic conditions for which a fetus can be tested during early pregnancy. 

While access to more knowledge might sound like a good thing, recent studies have indicated that testing companies are not being fully transparent about the incidence of false positives many of these tests provide. There is reporting that, when testing for statistically rare developmental conditions, the rate of false positive outcomes can be as high as 85-90%. These are conditions that would have long-term impacts on a child’s quality of life, even survival. 

The frequency of false positive tests is not reflected on company brochures before testing, nor on the test result sheets. Instead, companies use terms like “reliable”, “highly accurate”, “total confidence”, and “peace of mind” in promotional material.

This is possible because these non-invasive prenatal tests (NIPT) belong to a class of tests that do not undergo FDA review. They do not need to demonstrate to any regulatory body that their test accurately or reliably detects the disease or condition for which they’re designed, they are not required to report when tests deliver inaccurate results that harm patients, or demonstrate their marketing language is supported by data. 

My bill (S.11) would change that. It would require testing companies to: clarify the use of the test, indicate that not all high-risk occurrences correspond to a positive test result, and not all low-risk results correspond to a negative result. It would require a clear statement on all testing and marketing materials that any positive result should be confirmed by additional testing.

Perhaps most importantly, my bill addresses the need for widespread education about NIPTs, available through the Department of Health. Everyone deserves access to crucial information about both the benefits and the limitations of this class of prenatal screenings prior to making decisions involving their pregnancy. 

During a period that already feels uncertain for any parent, access to trustworthy information is crucial. I’m glad to report the State Senate has passed our legislation; we urge the Assembly to follow suit. The Legislature has the power to protect New Yorkers from inaccurate and unreliable testing.Sincerely,James