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Dangers of overscreening: Example of prenatal chromosomal deletion syndromes

  • 1.  Dangers of overscreening: Example of prenatal chromosomal deletion syndromes

    Posted 01-05-2022 15:36

    https://www.nytimes.com/2022/01/01/upshot/pregnancy-birth-genetic-testing.html

     

    I didn't initially expect to like this article, and based on the reader comment section, many physicians didn't like it. But after reading it more closely, I think the reporters did a great job presenting complex issues. A key message here is that as medical insiders (and a medical laboratory insider in my case), it's easy for us to say that physicians and patients should know better than to make major decisions based on a screening test alone. But the reality is that screening tests have consequences. These reporters interviewed a number of mothers who received prenatal screening tests indicating that their babies probably had fatal chromosomal defects, yet the tests turned out to be false positives. The reporters also made a convincing case that many of these cases result in pregnancy terminations in the absence of confirmatory tests (which are expensive, invasive, and can't always be performed prior to state-level legal termination deadlines).

     

    Bottom line: screening needs to be done in responsible ways. Professional groups such as ACOG and the American College of Medical Genetics understand these issues well. Many commercial laboratories do not (or maybe they just cynically don't want to).

     

    --Brian Jackson

     

    ..........................................

    Brian R. Jackson, MD, MS (he/him)

    Assoc. Professor of Pathology (Clinical), University of Utah

    Medical Director of Support Svcs, IT and Business Development, ARUP Laboratories

     

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