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.
摘要：
胎儿结构异常和出生缺陷主要由染色体数目异常等遗传变异引起,拷贝数变异（CNV），单核苷酸变异（SNV），和小插入和删除(indel)。基于下一代测序（NGS）的全基因组测序（WGS）作为一种新兴的遗传病诊断技术，可以检测上述类型的变异。近年来,用于产前诊断的深度WGS（>30×）也已可用，并被证明适用于揭示胎儿发育异常的遗传病因。为了促进临床实践，用于诊断胎儿结构异常的WGS的测试开发和初步实施，我们通过汇编先前发表的共识，就WGS在产前诊断中的应用达成了共识，指导方针,和研究结果，为数据分析提供指导，报告建议，和产前WGS结果咨询。
