Non-invasive prenatal screening (NIPS) with cell-free DNA (cfDNA) is used to determine whether a fetus could have genetic abnormalities that may lead to the child being born with health complications. A recent evidence-based review by the American College of Medical Genetics and Genomics (ACMG) found that NIPS was more than 99 percent accurate in detecting the most common trisomies (trisomies 13, 18, and 21) in both singleton and twin pregnancies, as well as in identifying sex chromosome abnormalities in general-risk pregnancies.
NIPS tests have been under increased scrutiny recently due to mainstream media reports criticizing their accuracy, as well as how they are marketed to both consumers and health care providers, with even the U.S. Food & Drug Administration recently weighing in on the risks of false results from these tests. In general, marketers often do a poor job of explaining the difference between screening and diagnostic tests and defining what they mean by accuracy when discussing the tests, according to media reports. NIPS are not diagnostic tests, and if they produce a positive result, patients and health care providers are encouraged to do more accurate follow-up testing to confirm those results.
However, the expert review of 87 studies shows that NIPS tests do accurately detect the most common conditions they test for, though the ACMG does say NIPS isn’t as accurate for finding rare autosomal trisomies, copy number variants, and sex chromosome aneuploidies.
To find out more, read this news story from TCL’s sister brand, G2 Intelligence.