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

作者：Norton, Mary E.^*; Brar, Herb; Weiss, Jonathan; Karimi, Ardeshir; Laurent, Louise C.; Caughey, Aaron B.; Rodriguez, M. Hellen; Williams, John, III; Mitchell, Michael E.; Adair, Charles D.; Lee, Hanmin; Jacobsson, Bo; Tomlinson, Mark W.; Oepkes, Dick; Hollemon, Desiree; Sparks, Andrew B.; Oliphant, Arnold; Song, Ken

来源：American Journal of Obstetrics and Gynecology, 2012, 207(2): 137.e1.

DOI：10.1016/j.ajog.2012.05.021

• aneuploidy detection
• cell-free fetal DNA
• Down syndrome
• noninvasive prenatal diagnosis
• trisomy

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.

• 出版日期2012-8