New Year news for prenatal screening blood tests

The New York Times gives insight into prenatal blood tests, clinical utility and patient experience in a competitive market place: Testing companies currently offer seven microdeletion screenings. But two syndromes — Langer-Giedion and Jacobsen — are so rare that there is not enough data to understand how well the tests work. A few other tests for conditions that are not caused by microdeletions are also widely offered, with varying degrees of reliability. The screenings for Patau syndrome (which often appears on lab reports as “trisomy 13”) and Turner syndrome (“monosomy X”) also generate a large percentage of incorrect positives, while the screenings for Down syndrome (“trisomy 21”) and Edwards syndrome (“trisomy 18”) work well, according to experts. health equity access in reproductive genetics. Are these screening tools, and the follow-up diagnostic testing that may be needed, being offered to all groups of pregnant patients, or mainly the white and the wealthy? Are patients ending up with large bills they didn’t agree to after NIPS and follow-up diagnostics?  

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A response to this article in Forbes explains that : When patients and their clinicians understand NIPS and it is used and interpreted accurately, this technology can be incredibly helpful to the families who want information about whether their fetus may have a chromosome abnormality. Certified genetic counselors can and should be used to help patients and their clinicians understand NIPS, and are available in person, via telehealth, and through digital tools that are scalable and affordable. #prenataltesting #microdeletionsyndrome #genetics #raredisorder #newyorktimes 

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