Exome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis

ES provides high incremental diagnostic yield for NIHF after standard-of-care testing, and reevaluating non-diagnostic exomes in light of updated knowledge can maximize diagnostic yield. Identifying the etiology of NIHF facilitates prenatal diagnosis, improves the management of NIHF cases and predicts recurrence risk in future pregnancies.

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Publication Details

Journal
QJM
Published
2024-10-11
DOI
https://doi.org/10.1093/qjmed/hcae187
Primary Topic
Parvovirus B19 Infection Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

Exome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis

Juan Geng, Fake Li, Yunan Wang, Aihua Yin et al.
QJM
Parvovirus B19 Infection Studies
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Exome sequencing for nonimmune hydrops fetalis and clinical utility of data reanalysis

Juan Geng, Fake Li, Yunan Wang, Aihua Yin, Xin Zhao, Chang Liu, Yuan Liu, Yan Zhang, Jing Wu, Ying Xiong, Xingwang Wang, Yanlin Huang, Yiming Qi, Lihua Yu, Li Du, Liyuan Fang, Hongke Ding, Fangfang Guo, Anpeng Fu
article en

Abstract

ES provides high incremental diagnostic yield for NIHF after standard-of-care testing, and reevaluating non-diagnostic exomes in light of updated knowledge can maximize diagnostic yield. Identifying the etiology of NIHF facilitates prenatal diagnosis, improves the management of NIHF cases and predicts recurrence risk in future pregnancies.

QJMVol. 118(2)
Guangdong Province Women and Children Hospital (CN)
Openalex Percentile: Top 78%
Parvovirus B19 Infection Studies
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