These prenatal tests are usually wrong in warning of rare diseases

These prenatal tests are usually wrong in warning of rare diseases


Between 2011 and 2013, Sequenom, a small biotech company based in Silicon Valley, tripled. The key to success: MaterniT21, a new prenatal screening test that detected Down’s syndrome remarkably well.

Older screening tests took months and required multiple blood tests. This new one generated fewer false positives with a single blood draw.

The test could also determine the sex of a fetus. It quickly became a hit. “People came in and said, ‘I want this sex test,’” recalls Dr. Anjali Kaimal, maternal and fetal medicine specialist at Massachusetts General Hospital.

Competitors began to run their own tests. Today analyst estimates for the size of the market range from $ 600 million to billions, and the number of women taking these tests is expected to double by 2025.

As companies began looking for ways to differentiate their products, many decided to start screening for increasingly rare diseases. All screenings could be done with the same blood draw, and doctors already order many tests during brief prenatal visits, which means some likely thought little about starting a few more.

For the testing company, however, adding microdeletions can double an insurer’s cost – from an average of $ 695 for the base tests to $ 1,349 for the advanced panel, according to health data company Concert Genetics. (Patients whose insurance did not fully cover the tests describe being billed very differently, ranging from a few hundreds to thousands of dollars.)

But these conditions were so rare that there were few cases in which the tests could be found.

Take Natera, who performed 400,000 tests in 2020 for DiGeorge syndrome, a condition associated with heart disease and intellectual disability.



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Rachel Meadows

Rachel Meadows

Trending topics news writer who enjoys cooking, walking her dog and travel.

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