Lab Med Online.  2023 Jul;13(3):154-164. 10.47429/lmo.2023.13.3.154.

Practical Guidelines for Chromosomal Microarray Analysis for Constitutional Abnormalities: Part II, Reporting and Interpretation

• Won D
• Seol CA
• Ha JS
• Kim IS

• KMID: 2552739
• DOI: http://doi.org/10.47429/lmo.2023.13.3.154

Abstract

Chromosomal microarray (CMA) analysis can enhance the quality of clinical care for congenital abnormalities, including prenatal diagnosis. Laboratories must develop a comprehensive understanding of the strengths, weaknesses, and purposes of CMA analysis. Following the part I, which covers general and prenatal practical CMA guidelines for constitutional abnormalities, this part II provides instructions for CMA reporting and interpretation for the constitutional abnormalities. This guideline is primarily designed to address copy number variants (CNVs) interpretation and result reporting, as well as the preparation of result documents.

Keyword

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

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