선천성 이상의 염색체마이크로어레이 검사 지침(II): 보고 및 해석 지침

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.