Women's Reproductive Health Laboratory of Zhejiang Province, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Clin Chim Acta. 2012 Nov 12;413(21-22):1721-4. doi: 10.1016/j.cca.2012.07.004. Epub 2012 Jul 10.
To improve the accuracy of prenatal cytogenetic diagnosis by establishing an external quality assessment (EQA) scheme for rare, or subtle, structural chromosomal abnormalities.
Typical metaphase images of rare chromosomal abnormalities along with an anonymized clinical history were sent to 35 prenatal diagnosis laboratories. The laboratories were required to provide independent reports using current nomenclature. Evaluation of reports was based on established criteria for quality assessment of karyotype analysis.
Totally 6 kinds of typical rare chromosomal abnormalities were collected. 35 laboratories were enrolled with a response rate of 94.29%. The overall analytical accuracy is 82.20%. This is comparable with our former EQA scheme using established lymphocyte cell lines with rare abnormal chromosome karyotypes (χ²=0.065, P=0.799).
Introduction of efficient EQA for prenatal genetic diagnosis is currently imperative, due to the limited performances of karyotype analysis of rare chromosomal abnormalities. Metaphase images could be used as a simple and effective material for EQA and to improve the quality of prenatal genetic diagnosis.
通过建立罕见或细微结构染色体异常的外部质量评估（EQA）方案，提高产前细胞遗传学诊断的准确性。
将典型的罕见染色体异常中期图像和匿名临床病史发送至 35 家产前诊断实验室。要求实验室使用当前的命名法提供独立报告。报告的评估基于核型分析质量评估的既定标准。
共收集了 6 种典型的罕见染色体异常。35 家实验室参与了研究，响应率为 94.29%。总体分析准确性为 82.20%。这与我们之前使用罕见异常染色体核型的已建立淋巴细胞细胞系进行的 EQA 方案相当（χ²=0.065，P=0.799）。
由于罕见染色体异常的核型分析性能有限，因此引入高效的产前遗传诊断 EQA 势在必行。中期图像可以作为 EQA 的简单有效材料，提高产前遗传诊断的质量。
