A recent New York Times investigation found that many non-invasive prenatal tests often incorrectly give positive results for a number of rare genetic conditions, but geneticists say the article did not distinguish between screening and diagnostic tests.
At his KidsGenomics blog, Dan Koboldt, a genetics researcher, likens NIPTs to the metal detectors at the airport: most of the time when there is an alert, the person isn’t carrying anything dangerous, but the person is flagged so security officers check to be sure. Ellen Matloff, a genetic counselor and president and CEO of My Gene Counsel, similarly notes at Forbes that a NIPT screening result is not “wrong” if a diagnostic test gives a different result.
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