The Value of a Comprehensive Genomic Evaluation in Prenatal Diagnosis of Genetic Diseases: A Retrospective Study

The Value of a Comprehensive Genomic Evaluation in Prenatal Diagnosis of Genetic Diseases: A Retrospective Study

Currently, there are still many challenges in prenatal diagnosis, such as limited or uncertain fetal phenotyping, variant interpretation, and rapid turnaround times. The aim of this study was to illustrate the value of a comprehensive genomic evaluation in prenatal diagnosis. We retrospectively revi...

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Bibliographic Details
Main Authors: Fang Fu, Ru Li, Qiu-Xia Yu, Xiao Dang, Shu-Juan Yan, Hang Zhou, Ken Cheng, Rui-Bin Huang, You Wang, Yong-Ling Zhang, Xiang-Yi Jing, Li-Na Zhang, Dong-Zhi Li, Can Liao
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Genes
Subjects:
copy number variants
CMA
exome sequencing
CNV-seq
prenatal diagnosis
Online Access:https://www.mdpi.com/2073-4425/13/12/2365

Internet

https://www.mdpi.com/2073-4425/13/12/2365

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