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 Adair, Hanmin Lee, Bo Jacobsson, Mark W. Tomlinson, Dick Oepkes, Desiree Hollemon, Andrew B. Sparks, Arnold Oliphant, Ken Song

Research output: Contribution to journalArticle

379 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)137.e1-137.e8
JournalAmerican Journal of Obstetrics and Gynecology
Volume207
Issue number2
DOIs
StatePublished - Jan 1 2012

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Down Syndrome
Cohort Studies
Prospective Studies
Confidence Intervals
Chromosomes
Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 21
DNA
Aneuploidy
Multicenter Studies
Trisomy 18
Mothers

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology

Cite this

Non-Invasive Chromosomal Evaluation (NICE) Study : Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. / 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; Lee, Hanmin; Jacobsson, Bo; Tomlinson, Mark W.; Oepkes, Dick; Hollemon, Desiree; Sparks, Andrew B.; Oliphant, Arnold; Song, Ken.

In: American Journal of Obstetrics and Gynecology, Vol. 207, No. 2, 01.01.2012, p. 137.e1-137.e8.

Research output: Contribution to journalArticle

Norton, ME, Brar, H, Weiss, J, Karimi, A, Laurent, LC, Caughey, AB, Rodriguez, MH, Williams, J, Mitchell, ME, Adair, C, Lee, H, Jacobsson, B, Tomlinson, MW, Oepkes, D, Hollemon, D, Sparks, AB, Oliphant, A & Song, K 2012, 'Non-Invasive Chromosomal Evaluation (NICE) Study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18', American Journal of Obstetrics and Gynecology, vol. 207, no. 2, pp. 137.e1-137.e8. https://doi.org/10.1016/j.ajog.2012.05.021
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 ; Lee, Hanmin ; Jacobsson, Bo ; Tomlinson, Mark W. ; Oepkes, Dick ; Hollemon, Desiree ; Sparks, Andrew B. ; Oliphant, Arnold ; Song, Ken. / Non-Invasive Chromosomal Evaluation (NICE) Study : Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. In: American Journal of Obstetrics and Gynecology. 2012 ; Vol. 207, No. 2. pp. 137.e1-137.e8.
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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.",
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AU - Laurent, Louise C.

AU - Caughey, Aaron B.

AU - Rodriguez, M. Hellen

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AU - Mitchell, Michael E.

AU - Adair, Charles

AU - Lee, Hanmin

AU - Jacobsson, Bo

AU - Tomlinson, Mark W.

AU - Oepkes, Dick

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