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

Research output: Contribution to journalArticle

406 Scopus citations

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 - Aug 2012

Keywords

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

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Fingerprint Dive into the research topics of 'Non-Invasive Chromosomal Evaluation (NICE) Study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18'. Together they form a unique fingerprint.

  • Cite this

    Norton, M. E., Brar, H., Weiss, J., Karimi, A., Laurent, L. C., Caughey, A. B., Rodriguez, M. H., Williams, J., Mitchell, M. E., Adair, C. D., Lee, H., Jacobsson, B., Tomlinson, M. W., Oepkes, D., Hollemon, D., Sparks, A. B., 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, 207(2), 137.e1-137.e8. https://doi.org/10.1016/j.ajog.2012.05.021