Departments of Obstetrics and Gynecology and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA.
Prenat Diagn. 2022 May;42(6):796-803. doi: 10.1002/pd.6157.
The research and clinical use of genome-wide sequencing for prenatal diagnosis of fetuses at risk for genetic disorders have rapidly increased in recent years. Current data indicate that the diagnostic rate is comparable and for certain indications higher than that of standard testing by karyotype and chromosomal microarray. Responsible clinical implementation and diagnostic use of prenatal sequencing depends on standardized laboratory practices and detailed pre-test and post-test counseling. This Updated Position Statement on behalf of the International Society for Prenatal Diagnosis recommends best practices for the clinical use of prenatal exome and genome sequencing from an international perspective. We include several new points for consideration by researchers and clinical service and laboratory providers.
近年来，对有遗传疾病风险的胎儿进行全基因组测序的研究和临床应用迅速增加。目前的数据表明，其诊断率与核型分析和染色体微阵列等标准检测相当，在某些适应症上甚至更高。负责任的临床实施和产前测序的诊断应用取决于标准化的实验室实践以及详细的检测前和检测后咨询。本代表国际产前诊断学会的更新立场声明从国际角度推荐了产前外显子组和基因组测序的临床应用的最佳实践。我们为研究人员和临床服务及实验室提供者纳入了一些新的考虑要点。
