Author(s): Norton ME, Brar H, Weiss J, Karimi A, Laurent LC,
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Abstract OBJECTIVE: We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18). STUDY DESIGN: A multicenter cohort study was performed whereby cell-free DNA from maternal plasma was analyzed. Chromosome-selective sequencing on chromosomes 21 and 18 was performed with reporting of an aneuploidy risk (High Risk or Low Risk) for each subject. RESULTS: Of the 81 T21 cases, all were classified as High Risk for T21 and there was 1 false-positive result among the 2888 normal cases, for a sensitivity of 100\% (95\% confidence interval [CI], 95.5-100\%) and a false-positive rate of 0.03\% (95\% CI, 0.002-0.20\%). Of the 38 T18 cases, 37 were classified as High Risk and there were 2 false-positive results among the 2888 normal cases, for a sensitivity of 97.4\% (95\% CI, 86.5-99.9\%) and a false-positive rate of 0.07\% (95\% CI, 0.02-0.25\%). CONCLUSION: Chromosome-selective sequencing of cell-free DNA and application of an individualized risk algorithm is effective in the detection of fetal T21 and T18. Copyright © 2012 Mosby, Inc. All rights reserved.
This article was published in Am J Obstet Gynecol
and referenced in Journal of Molecular Biomarkers & Diagnosis