Expert consensus on the application of prenatal exome sequencing for fetal structural anomalies

VernacularTitle:全外显子组测序技术在产前诊断中应用的专家共识
Author: Guiyu LOU ; Qiaofang HOU ; Ke YANG ; Liangjie GUO
Keywords: Whole exome sequencing; Fetal structural anomaly; Prenatal diagnosis; Clinical practice consensus
From: Chinese Journal of Medical Genetics 2022;39(5):457-463
CountryChina
Language:Chinese
Abstract: Prospective research have shown that whole exome sequencing (WES) may be considered when a diagnosis cannot be obtained using routine prenatal methods, e. g., chromosomal karyotyping and copy number variation sequencing, for fetuses with significant structural anomalies. WES can increase the diagnostic rate of genetic disorders in such fetuses by 8%~10%. Prenatal WES has been gaining wide acceptance. However, due to the limitations of fetal phenotypic evaluation and complexity of ethical issues in prenatal diagnosis, to justify and standardize the application of prenatal WES and maximize its clinical utility has become an urgent need. In view of this, a consensus has been formed by referring to the latest guidelines, expert consensus and authoritative literature. This consensus has put forward suggestions on the suitable objects of prenatal WES, pre-test consultation, sampling and laboratory testing, results report, post-test consultation, pregnancy outcome follow-up, multidisciplinary consultation of difficult cases, preservation of prenatal WES samples and data information.