{Reference Type}: Journal Article
{Title}: [Expert consensus on the test development and preliminary implementation of whole genome sequencing for fetal structural abnormalities].
{Author}: Cyto And Genomics Group Of Medical Genetics Branch Of Chinese Medical Association ;Writing Group For Expert Consensus On Whole-Genome Sequencing In Prenatal Diagnosis ;Wang Y;Zhu X;Sun L;Tang X;Liu N;Kong X;
{Journal}: Zhonghua Yi Xue Yi Chuan Xue Za Zhi
{Volume}: 41
{Issue}: 6
{Year}: 2024 Jun 10
暂无{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 facilitate 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.