Expert consensus on the clinical application of efficient intelligent chromosomal karyotyping precise auxiliary diagnosis system
10.3760/cma.j.cn511374-20240706-00375
- VernacularTitle: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
- Author:
Hao WANG
1
;
Juan WEN
;
Yi LAI
;
Lingqian WU
Author Information
1. 浙江大学医学院附属邵逸夫医院生殖医学中心及妇产科，杭州 310016
- Keywords:
Intelligent auxiliary diagnosis system;
Chromosomal karyotyping analysis;
Expert consensus
- From:
Chinese Journal of Medical Genetics
2024;41(9):1025-1031
- CountryChina
- Language:Chinese
-
Abstract:
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.
