高效智能染色体核型精准辅助诊断系统的临床应用专家共识

Expert consensus on the clinical application of efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system

染色体核型分析是细胞遗传学诊断的"金标准",也是出生缺陷防控的有效手段。但传统的染色体核型分析主要依靠人工识别,费时费力。将高效智能染色体核型精准辅助诊断系统应用于染色体核型分析的临床实践,可缩短分析时间,大幅提高分析效率,提高低比例嵌合体的检出率,加强实验室之间的同质化,有效提升细胞遗传学诊断的服务能力和水平。随着该系统在核型分析领域的不断深入应用,现已积累大量的临床应用数据和经验,经高效智能染色体核型精准辅助诊断系统的临床应用协作组组织专家通过多轮讨论制定了本共识,旨在为业界同行更好地在染色体核型分析中应用智能辅助诊断系统提供参考,推动染色体核型分析技术的规范发展。

Chromosomal karyotyping analysis has been considered as the gold standard for cytogenetic diagnosis and an effective measure for preventing birth defects.However,conventional karyotyping analysis relies heavily on manual recognition,which is time-consuming and labor-intensive.The application of an efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system in clinical practice can significantly reduce the analysis time and greatly improve the efficiency,increase the detection rate for low-percentage mosaicisms,and promote homogenization between laboratories.This can effectively enhance the capacity and level of cytogenetic diagnosis.With the continuous application of such system in the field of karyotyping analysis,a substantial amount of clinical application data and experience has been accumulated.This consensus has been formulated after multiple rounds of discussion by experts from the clinical application collaboration group of the efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system.It aims to provide a reference for peers to better utilize intelligent auxiliary diagnosis systems during chromosomal karyotyping analysis and promote the standardized development of karyotyping analysis technology.