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Updated: May 20, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
An external quality assessment scheme for prenatal detection of rare chromosomal abnormalities
1Women's Reproductive Health Laboratory of Zhejiang Province, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Objective:
To improve the accuracy of prenatal cytogenetic diagnosis by establishing an external quality assessment (EQA) scheme for rare, or subtle, structural chromosomal abnormalities.
Method:
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.
Results:
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).
Conclusion:
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.
