Variants of unknown significance in fetal heart malformations: distribution and impact on prenatal decision-making

Fetuses with cardiac malformations accompanied by structural extracardiac anomalies carry the highest genetic risk; karyotyping combined with CMA should therefore be performed routinely. Complex cardiac malformations also warrant concurrent testing, whereas simple malformations and those with soft markers can be evaluated individually.

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Publication Details

Journal
Frontiers in Pediatrics
Published
2025-09-24
DOI
https://doi.org/10.3389/fped.2025.1605899
Citations
1
Primary Topic
Congenital Heart Disease Studies
Type
article
Field-Weighted Citation Impact
1.35
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article

Variants of unknown significance in fetal heart malformations: distribution and impact on prenatal decision-making

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Congenital Heart Disease Studies
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article

Variants of unknown significance in fetal heart malformations: distribution and impact on prenatal decision-making

Xianmin Wang, Caiyu Guo, Weiyi Wan, Qingsong Wang, Huang‐Tz Ou, Xiaomeng Zhang, Jun Yin, Yang Cao, Yundong Zhang, Fuyan Li, Tongyong Luo
article en
1 citations

Abstract

Fetuses with cardiac malformations accompanied by structural extracardiac anomalies carry the highest genetic risk; karyotyping combined with CMA should therefore be performed routinely. Complex cardiac malformations also warrant concurrent testing, whereas simple malformations and those with soft markers can be evaluated individually.

Frontiers in PediatricsVol. 13
Chengdu Medical College (CN), Sichuan University (CN), West China Hospital of Sichuan University (CN), Chengdu Women's and Children's Central Hospital (CN)
Openalex Percentile: Top 15%
Congenital Heart Disease Studies
1.35
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