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

We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18). 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...

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Bibliographic Details
Published in:American journal of obstetrics and gynecology Vol. 207; no. 2; pp. 137.e1 - 137.e8
Main Authors: Norton, Mary E., Brar, Herb, Weiss, Jonathan, Karimi, Ardeshir, Laurent, Louise C., Caughey, Aaron B., Rodriguez, M. Hellen, Williams, John, Mitchell, Michael E., Adair, Charles D., Lee, Hanmin, Jacobsson, Bo, Tomlinson, Mark W., Oepkes, Dick, Hollemon, Desiree, Sparks, Andrew B., Oliphant, Arnold, Song, Ken
Format: Journal Article
Language:English
Published: New York, NY Mosby, Inc 01.08.2012
Elsevier
Subjects:
Adolescent
Adult
Algorithms
aneuploidy detection
Biological and medical sciences
cell-free fetal DNA
Chromosome aberrations
Chromosomes, Human, Pair 18 - genetics
Chromosomes, Human, Pair 21 - genetics
DNA - blood
Down syndrome
Down Syndrome - diagnosis
Female
Gynecology. Andrology. Obstetrics
Humans
Medical genetics
Medical sciences
Middle Aged
noninvasive prenatal diagnosis
Obstetrics and Gynecology
Predictive Value of Tests
Pregnancy
Prenatal Diagnosis - methods
Prospective Studies
Risk Assessment
Sensitivity and Specificity
trisomy
Trisomy - diagnosis
Trisomy - genetics
Young Adult
aneuploidy detection
noninvasive prenatal diagnosis
Down syndrome
trisomy
cell-free fetal DNA
Chromosomal aberration
Trisomy
Multicenter study
Gynecology
Aneuploidy
Obstetrics
Pregnancy
Chromosome E18
Cohort study
Non invasive method
Fetus
Detection
Edwards syndrome
ISSN:0002-9378, 1097-6868, 1097-6868
Online Access:Get full text
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Summary:We sought to evaluate performance of a noninvasive prenatal test for fetal trisomy 21 (T21) and trisomy 18 (T18). 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. 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%). 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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ISSN:0002-9378
1097-6868
1097-6868
DOI:10.1016/j.ajog.2012.05.021