Subjectivity in chromosome band–level estimation: a multicenter study

Subjectivity in chromosome band–level estimation: a multicenter study

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...

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Bibliographic Details
Published in:Genetics in medicine Vol. 16; no. 2; pp. 170 - 175
Main Authors: Geiersbach, Katherine B., Gardiner, Anna E., Wilson, Andrew, Shetty, Shashirekha, Bruyère, Hélène, Zabawski, James, Saxe, Debra F., Gaulin, Rebecca, Williamson, Cynthia, Van Dyke, Daniel L.
Format: Journal Article
Language:English
Published: New York Nature Publishing Group US 01-02-2014
Elsevier Limited
Subjects:
631/208/1405
Amniotic fluid
Amniotic Fluid - cytology
Biomedical and Life Sciences
Biomedicine
Blood Cells - cytology
Chromosome Banding - methods
Chromosomes
Cytogenetics
Human Genetics
Humans
Karyotype
Laboratories
Laboratory Medicine
Methods
original-research-article
United Kingdom
chromosome analysis
band level
karyotype
cytogenetics
band resolution
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Summary: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. Genet Med 16 2, 170–175.
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ISSN:1098-3600
1530-0366
DOI:10.1038/gim.2013.95