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Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies

Abstract Introduction Ultrasound scanning anomalies in fetuses are a cause for concern and often necessitate further diagnostic procedures. This retrospective study evaluated the utility of trio whole exome sequencing (trio-WES) in the diagnosis of fetuses with ultrasound anomalies. Methods We inclu...

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Principais autores: Ziye Zeng, Lan Zhang, Yuqin Zhou, Xue Zhang, Hong Yi, He Li, Yuqi Liu, Jian Li, Qian Chen, Yulin Chen, Guiming Yu, Jing Yi, Yana Zhang, Hua Zhang, Yanling Dong
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-04-01
Serier:Human Genomics
Fag:
Trio whole exome sequencing
Structural anomalies
Dynamic anomalies
Soft markers
Prenatal diagnosis
Online adgang:https://doi.org/10.1186/s40246-025-00745-6
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