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Illumina Reanalyzes Prenatal Screening False Positives

July 13, 2016 | "The use of cell-free DNA obtained from maternal plasma to perform noninvasive prenatal screening has been rapidly integrated into the care of pregnant women... Here we reanalyze previously generated sequencing data from the general-risk cohort of the Comparison of Aneuploidy Risk Evaluations (CARE) study using an updated analytic algorithm." So writes Diana Bianchi and two Illumina scientists in a letter to the editor of the New England Journal of Medicine. Bianchi is an expert in noninvasive prenatal diagnosis, and Illumina acquired Verinata Health, an NIPT company. The short letter to the editor presents findings for CARE cohort using updated technology, and finds that there were both technological and biological reasons for false positives. New England Journal of Medicine