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 language | English (US) |
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Pages (from-to) | 170-175 |
Number of pages | 6 |
Journal | Genetics in Medicine |
Volume | 16 |
Issue number | 2 |
DOIs | |
State | Published - Feb 2014 |
Keywords
- band level
- band resolution
- chromosome analysis
- cytogenetics
- karyotype
ASJC Scopus subject areas
- Genetics(clinical)