Lab Med Online.  2023 Jul;13(3):141-153. 10.47429/lmo.2023.13.3.141.

Practical Guidelines for Chromosomal Microarray Analysis for Constitutional Abnormalities: Part I, General and Prenatal

• Seol CA
• Ha JS
• Won DJ
• Kim IS

• KMID: 2552738
• DOI: http://doi.org/10.47429/lmo.2023.13.3.141

Abstract

Chromosomal microarray (CMA) testing can enhance the quality of clinical care for congenital abnormalities, including prenatal diagnosis. Laboratories require a comprehensive understanding of the strengths, weaknesses, and purposes of CMA testing. They should also have appropriate plans, guidelines, and documented records for platform validation and quality control at all stages of testing. Performing prenatal CMA testing necessitates understanding the features of prenatal specimens, devising a verification process, reporting results, and providing genetic counseling. This guideline aims to establish standard test protocols for conducting CMA tests, ensuring accurate results, and aiding in diagnosing and treating patients.

Keyword

Congenital abnormalities; DNA copy number variations; Microarray analysis; Prenatal diagnosis

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