Subjectivity in chromosome band-level estimation: A multicenter study

Katherine B. Geiersbach, Anna E. Gardiner, Andrew Wilson, Shashirekha Shetty, Hélène Bruyère, James Zabawski, Debra F. Saxe, Rebecca Gaulin, Cynthia Williamson, Daniel L. Van Dyke

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

Purpose: Chromosome band level is the primary quality indicator for G-banded metaphase chromosome analysis. Although current professional guidelines address the minimum necessary band level for constitutional studies, there is no study documenting the comparative performance of different band-level estimation methods. Methods: This study compared 5 band-level estimation methods (Stallard, Vancouver, Welborn, United Kingdom External Quality Assurance Scheme, and Ford) in a multicenter study in which 82 readers from 7 different clinical cytogenetics laboratories evaluated the same 10 karyotypes (5 from amniotic fluid and 5 from peripheral blood) by each method. Results: There was a 94% correlation between the five band-level estimation methods. The Welborn method yielded significantly lower scores for amniotic fluid karyotypes (P < 0.01) but not for peripheral blood karyotypes (P = 0.75). The distribution of scores obtained from different readers suggests a high level of subjectivity in chromosome band-level assessment. The variation in band-level estimation did not correlate with reader experience or study center, except for readers from one laboratory, for which the distribution of scores was significantly lower (P < 0.01). Conclusion: The results from this study suggest that the consistent use of one method is more important than the actual method employed for monitoring karyotype quality.

Original languageEnglish (US)
Pages (from-to)170-175
Number of pages6
JournalGenetics in Medicine
Volume16
Issue number2
DOIs
StatePublished - Feb 2014

Keywords

  • band level
  • band resolution
  • chromosome analysis
  • cytogenetics
  • karyotype

ASJC Scopus subject areas

  • Genetics(clinical)

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    Geiersbach, K. B., Gardiner, A. E., Wilson, A., Shetty, S., Bruyère, H., Zabawski, J., Saxe, D. F., Gaulin, R., Williamson, C., & Van Dyke, D. L. (2014). Subjectivity in chromosome band-level estimation: A multicenter study. Genetics in Medicine, 16(2), 170-175. https://doi.org/10.1038/gim.2013.95