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Updated: Jul 10, 2026
High Throughput MicroRNA Profiling: Optimized Multiplex qRT-PCR at Nanoliter Scale on the Fluidigm Dynamic ArrayTM IFCs
Published on: August 3, 2011
Development of a High-Throughput Microarray Platform for Rapid, Low-Cost Expanded Carrier Screening
Jiazhen Chang1, Na Hao1, Xiya Zhou1
1National Clinical Research Center for Women's Health and Obstetric and Gynecologic Diseases, Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China.
Objective:
To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next-generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data-analysis process.
Method:
A dedicated panel composed of 8271 variants of 265 high-priority genes was developed for custom microarray fabrication. To test the performance of the custom microarray, we selected 1051 blood samples from an NGS-based ECS project to conduct a blind test. The evaluation indicators include sensitivity, specificity and positive predictive value.
Results:
582 variants were identified in 69 genes. The concordance between the microarray platform and NGS platform results reaches 99.5%. The microarray demonstrated high sensitivity (99.8%) and specificity (99.8%), showing excellent performance in both positive and negative samples. The microarray platform reduces testing cycles to 3-4 days and lowers costs by 94%-96%.
Conclusion:
This study confirms that microarray-based carrier screening is a reliable, cost-effective, and timely alternative to NGS, and it is especially suitable for large-scale population screening.
