A consensus recommendation for the interpretation and reporting of copy number variation and regions of homozygosity in prenatal genetic diagnosis.

VernacularTitle:产前遗传学诊断拷贝数变异和纯合区域的数据分析解读及报告规范化共识
Author: Weiqiang LIU ^{1
,

2} ; Jian LU ; Jun ZHANG ; Ru LI ; Shaobin LIN ; Yan ZHANG ; Yousheng WANG ; Aihua YIN
Author Information

1. The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong 510150, China. yinaiwa@vip.
2. com.
Publication Type:Journal Article
From: Chinese Journal of Medical Genetics 2020;37(7):701-708
CountryChina
Language:Chinese
Abstract: Chromosomal microdeletions and microduplications have been proven to be a significant proportion of genetic factors underlying birth defects. Chromosomal microarray analysis (CMA) and next generation sequencing-based copy number variation (CNV-seq) assay have been recommended as first-tier tests for prenatal evaluation of disease-causing CNV across the genome. With the broad application of such technologies in prenatal genetic diagnosis, there is a needed to enhance the consistency in interpretation and reporting of CNV results in clinical laboratories across China. In addition, a standard guideline for prenatal analysis and reporting of regions of homozygosity (ROH) is also required. To assist the classification, interpretation and reporting of CNV/ROH, the following recommendations have been developed, which may enhance a standard application of CMA/CNV-seq techniques in prenatal genetic diagnosis.