Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies

This study highlights the clinical significance of CMA and WES in the prenatal diagnosis of genetic disorders in fetuses presenting with cardiac ultrasound abnormalities. It affirms the robust utility of CMA and WES methodologies in prenatal diagnosis and genetic counseling.

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Publication Details

Journal
Frontiers in Genetics
Published
2026-01-04
DOI
https://doi.org/10.3389/fgene.2025.1668252
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
0.00

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article

Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies

Yan Wu, Ji Yuan, Yawen Qiang, Gui Mei Chen et al.
Frontiers in Genetics
Prenatal Screening and Diagnostics
article

Integration of chromosomal microarray analysis and whole-exome sequencing for prenatal diagnosis of fetuses with cardiac ultrasound anomalies

Yan Wu, Ji Yuan, Yawen Qiang, Gui Mei Chen, Weisheng Cheng, Renhua Wu, Fang Yang, Xiang Liu, Fang Liu
article en

Abstract

This study highlights the clinical significance of CMA and WES in the prenatal diagnosis of genetic disorders in fetuses presenting with cardiac ultrasound abnormalities. It affirms the robust utility of CMA and WES methodologies in prenatal diagnosis and genetic counseling.

Frontiers in GeneticsVol. 16
Anhui University of Science and Technology (CN), Anhui Medical University (CN), First Affiliated Hospital of Anhui Medical University (CN)
National Natural Science Foundation of China, China Postdoctoral Science Foundation, Natural Science Foundation of Anhui Province, National Key Research and Development Program of China
Openalex Percentile: Top 97%
Prenatal Screening and Diagnostics
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