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Three years ago, a new prenatal test for Down syndrome entered the market offering earlier, safer, and more accurate results. What have we learned about this new technology since then?

It’s non-invasive prenatal screening, not diagnostic.

On October 17, 2011, Sequenom, a San Diego biotech company, launched MaterniT21, a prenatal test for Down syndrome and other conditions with an extra chromosome. Competitors have since entered the market offering their own brand: Ariosa’s Harmony, Verinata’s verifi, and Natera’s Panorama. These tests promise very high detection rates and very low false negatives based only on a test of the mother’s blood.

When the testing was being developed, it was thought it would be diagnostic. When it came to market, however, it still had false positives and false negatives, rendering it not a diagnostic test, but a screening test. To emphasize this point, the American College of Medical Genetics & Genomics (ACMG) labeled the testing “Non-Invasive Prenatal Screening” or “NIPS.”

No matter how the test results are returned or told by a medical provider, a MaterniT21, verifi, Harmony, or Panorama test...