A consensus recommendation for the interpretation and reporting of exome sequencing in prenatal genetic diagnosis
10.3760/cma.j.cn511374-20200809-00593
- VernacularTitle:产前外显子组测序遗传咨询及报告规范(讨论稿)
- Author:
Yan ZHANG
;
Weiqiang LIU
;
Jun ZHANG
;
Shaobin LIN
;
Hui HUANG
;
Victor Wei ZHANG
;
Zhilin REN
;
Yousheng WANG
;
Yaping YANG
;
Aihua YIN
- Keywords:
Prenatal genetic diagnosis;
Exome sequencing;
Genetic counseling;
Standardization recommendation
- From:
Chinese Journal of Medical Genetics
2020;37(11):1205-1212
- CountryChina
- Language:Chinese
-
Abstract:
With the rapid development and adaptation of high-throughput sequencing in clinical settings, application of exome sequencing (ES) has been gradually expanded from pediatric to prenatal diagnosis in recent years. There is an urgent need to establish criteria for clinical grade ES in order to facilitate such a complex testing. The standardization of pre- and post-test consultation, quality control for sample processing process and validation of bioinformatics data analysis, and more importantly data interpretation and reporting, as well as appropriate reporting scope, is of great importance for health care stakeholders. To achieve this, a committee composed of a wide range of healthcare professionals has proposed an ES standard for prenatal diagnosis. This has provided expert opinion on the genetic counseling and reporting standards of prenatal ES for the purpose of applying ES technology in prenatal setting.
