Guidelines for the application of copy number variation testing in prenatal diagnosis
10.3760/cma.j.cn511374-20200522-00373
- VernacularTitle:拷贝数变异检测在产前诊断中的应用指南
- Author:
Ting HU
;
Shanling LIU
- Keywords:
Copy number variation;
Chromosomal microarray analysis;
Copy number variation sequencing;
Prenatal diagnosis;
Application guideline
- From:
Chinese Journal of Medical Genetics
2020;37(9):909-917
- CountryChina
- Language:Chinese
-
Abstract:
Genomic diseases caused by pathogenic copy number variations (pCNVs) are a group of important causes for birth defects. At present, the methods used to detect CNV mainly include chromosomal microarray analysis (CMA) and copy number variation sequencing (CNV-seq) based on next generation sequencing (NGS). In recent years, CNV detection technology has been widely used in the field of prenatal diagnosis. To standardize the clinical application of such technologies, the authors have formulated a guideline for the application of CNV testing in prenatal diagnosis, which includes the basic requirement, scope of application, clinical testing and consultation, procedure of CNV analysis in prenatal diagnosis, with an aim to better serve the patients.
