Diagnostic value of whole exome sequencing for fetuses undergone induced labor due to structural abnormalities.
10.3760/cma.j.cn511374-20250122-00051
- Author:
Yuanyuan CAO
1
;
Lin WANG
;
Rui WANG
;
Yuan LIU
;
Xin LI
Author Information
1. Center of Medical Genetics, Northwest Women's and Children's Hospital, Xi'an, Shaanxi 710061, China. 728514547@qq.com.
- Publication Type:Journal Article
- MeSH:
Humans;
Female;
Exome Sequencing/methods*;
Pregnancy;
DNA Copy Number Variations/genetics*;
Retrospective Studies;
Adult;
Prenatal Diagnosis/methods*;
Abortion, Induced;
Fetus/abnormalities*;
Congenital Abnormalities/diagnosis*;
Genetic Testing;
Aborted Fetus/abnormalities*
- 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 variants were 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.
