Diagnostic value of whole exome sequencing for fetuses undergone induced labor due to structural abnormalities

VernacularTitle:全外显子组测序对于结构异常引产胎儿的诊断价值
Author: Yuanyuan CAO ¹ ; Lin WANG ¹ ; Rui WANG ¹ ; Yuan LIU ¹ ; Xin LI ¹
Author Information

1. 西北妇女儿童医院医学遗传中心，西安　710061
Publication Type:Journal Article
Keywords: Induced abortion tissue; Copy number variation; Whole exome sequencing
From: Chinese Journal of Medical Genetics 2025;42(5):532-539
CountryChina
Language:Chinese
Abstract: Objective:To assess the diagnostic value of whole exome sequencing (WES) for fetuses undergone induced abortion due to structural abnormalities.Methods:A retrospective analysis was carried out on 43 aborted fetuses with negative results for copy number variation (CNV) testing from January 2023 to June 2024 at Northwest Women′s and Children′s Hospital. Trio-WES was carried out on the tissues from the aborted fetuses. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 21-036).Results:Among the 43 abortic fetuses, WES has detected pathogenic variants in 15 cases, with a total of 9 pathogenic variants, 5 suspected pathogenic variants, and 5 variants of uncertain significance. No definite pathogenic variant was detected in the remaining 28 cases.Conclusion:For fetuses with structural abnormalities and negative results from CNV testing, WES can increase the diagnostic rate and facilitate etiological diagnosis and genetic counseling.