JOURNAL ARTICLE
MULTICENTER STUDY

Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18

Mary E Norton, Herb Brar, Jonathan Weiss, Ardeshir Karimi, Louise C Laurent, Aaron B Caughey, M Hellen Rodriguez, John Williams, Michael E Mitchell, Charles D Adair, Hanmin Lee, Bo Jacobsson, Mark W Tomlinson, Dick Oepkes, Desiree Hollemon, Andrew B Sparks, Arnold Oliphant, Ken Song
American Journal of Obstetrics and Gynecology 2012, 207 (2): 137.e1-8
22742782

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.

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