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A Report on the Non-Invasive Prenatal Testing Proficiency Exercise of a Trisomy 21 Female cfDNA Sample

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"A Report on the Non-Invasive Prenatal Testing Proficiency Exercise of a Trisomy 21 Female cfDNA Sample"

Proficiency testing allows a laboratory to evaluate if its test performance is satisfactory for the intended clinical purpose. It enables inter-laboratory comparisons by providing the same material to participants. This is important for non-invasive prenatal tests (NIPS or NIPT) since they are not FDA-approved diagnostic tests and are only intended for screening.

This white paper from LGC SeraCare describes a study examining the 2022 College of American Pathologists NIPT participant summary report regarding a case that showed a disparity in fetal sex chromosome status between the participants, with findings supporting the importance of appropriate diagnostic follow-up, genetic counseling, and clinical correlation in prenatal testing.


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