Assessment of laboratories offering cell-free (cf) DNA screening for Down syndrome: results of the 2018 College of American Pathology External Educational Exercises.
Glenn E PalomakiPhilip WyattRobert Glen BestNathalie LepageEdward R AshwoodRhona J SouersJohn A ThorsonPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Patient-derived materials are suitable for all enrolled technologies/methodologies, but collecting material is challenging. Suggested clinical text includes the terms "screen positive" and "screen negative." Overall, laboratories performed well. Future efforts will focus on potential manufactured samples, clarifying results reporting and including additional chromosome abnormalities.