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.
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.
Authors: Baran Bayindir; Luc Dehaspe; Nathalie Brison; Paul Brady; Simon Ardui; Molka Kammoun; Lars Van der Veken; Klaske Lichtenbelt; Kris Van den Bogaert; Jeroen Van Houdt; Hilde Peeters; Hilde Van Esch; Thomy de Ravel; Eric Legius; Koen Devriendt; Joris R Vermeesch Journal: Eur J Hum Genet Date: 2015-01-14 Impact factor: 4.246
Authors: Matthew R Grace; Emily Hardisty; Sarah K Dotters-Katz; Neeta L Vora; Jeffrey A Kuller Journal: Obstet Gynecol Surv Date: 2016-08 Impact factor: 2.347
Authors: M A Allyse; L C Sayres; M Havard; J S King; H T Greely; L Hudgins; J Taylor; M E Norton; M K Cho; D Magnus; K E Ormond Journal: Prenat Diagn Date: 2013-05-21 Impact factor: 3.050