Guidelines and Consensus
Expert consensus on the test development and preliminary implementation of whole genome sequencing for fetal structural abnormalities
Cyto and Genomics Group, Medical Genetics Branch, Chinese Medical Association, Writing Group for Expert Consensus on Whole-genome Sequencing in Prenatal Diagnosis, Wang Yanfei, Zhu Xiaofan, Sun Luming, Tang Xiaohua, Liu Ning, Kong Xiangdong
Published 2024-06-10
Cite as Chin J Med Genet, 2024, 41(6): 677-684. DOI: 10.3760/cma.j.cn511374-20231017-00197
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.
Key words:
Whole-genome sequencing; Prenatal diagnosis; Expert consensus
Contributor Information
Cyto and Genomics Group, Medical Genetics Branch, Chinese Medical Association
Writing Group for Expert Consensus on Whole-genome Sequencing in Prenatal Diagnosis
Wang Yanfei
Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Zhu Xiaofan
Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Sun Luming
Department of Fetal Medicine, Shanghai First Maternity and Infant Hospital, Shanghai 200040, China
Tang Xiaohua
Department of Genetic and Genomic Medicine, the People′s Hospital of Zhejiang Province, Hangzhou, Zhejiang 314408, China
Liu Ning
Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Kong Xiangdong
Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
