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선천성 이상의 염색체마이크로어레이 검사 지침(I): 일반 및 산전검사 지침

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

김인숙|하정숙|원동주|설창안
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2023.07|Laboratory Medicine Online|제13권 제3호|pp. 141-153|DOI 10.47429/lmo.2023.13.3.141

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참고문헌

키워드

Prenatal diagnosisCongenital abnormalitiesMicroarray analysisDNA copy number variations

초록

염색체마이크로어레이 검사의 활용으로 산전진단을 포함한 선천성 이상에서 임상 진료의 질이 향상될 수 있다. 검사실은 염색체마이크로어레이 검사의 장단점과 목적을 잘 이해해야 하고, 검사의 도입, 변경, 수행 과정에서 플랫폼 검증 및 검사 모든 과정의 질관리에 대한 적절한 계획과 지침 및 문서화된 기록을 가지고 있어야 한다. 산전 CMA 검사는 산전검체의 특성을 이해하고, 거기에 부합하는 검증과정, 결과보고, 포괄적 유전상담에 대한 계획이 필요하다. 본 지침은 국내 CMA 검사 수행의 표준 검사 지침을 마련하고, 검사의 오류를 줄여 정확한 검사 및 해석을 제공함으로써 환자의 진단과 치료에 도움이 되고자 한다.

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.

참고문헌 (33)

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