Expert consensus on the test development and preliminary implementation of whole genome sequencing for fetal structural abnormalities
10.3760/cma.j.cn511374-20231017-00197
- VernacularTitle:高深度全基因组测序应用于胎儿结构异常的测试开发和初步实施的专家共识
- Author:
Yanfei WANG
1
;
Xiaofan ZHU
;
Luming SUN
;
Xiaohua TANG
;
Ning LIU
;
Xiangdong KONG
Author Information
1. 郑州大学第一附属医院遗传与产前诊断中心，郑州 450052
- Keywords:
Whole-genome sequencing;
Prenatal diagnosis;
Expert consensus
- From:
Chinese Journal of Medical Genetics
2024;41(6):677-684
- CountryChina
- Language:Chinese
-
Abstract:
Fetal structural anomalies and birth defects are primarily caused by genetic variants such as chromosomal number abnormalities, copy number variations (CNV), single nucleotide variants (SNV), and small insertions and deletions (indel). Whole-genome sequencing (WGS) based on next-generation sequencing (NGS) as an emerging technology for genetic disease diagnosis can detect the aforementioned types of variants. In recent years, high-depth WGS (> 30×) for prenatal diagnosis has also become available, and proved to be practical for unraveling the genetic etiology of fetal developmental abnormalities. To fascilitate clinical practice, test development and preliminary implementation of WGS for diagnosing fetal structural anomalies, we have formulated a consensus over the application of WGS in prenatal diagnosis by compiling previously published consensuses, guidelines, and research findings to provide a guidance on data analysis, reporting recommendations, and consultation of prenatal WGS results.
