Application of trio-based whole-exome sequencing in fetal ultrasound anomalies: a single-center retrospective study of 454 cases.

Dongyi Yu, Dairong Feng, Jiangbo Qu, Lei Nie, Qian Liu, Lu Gao, Wenzhen An, Na Liu, Yuying Fang

Abstract read

In one paragraph

Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed

–field-weighted citation impact

1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Dongyi YuCenter for Medical Genetics and Prenatal Diagnosis, Shandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao University, Jinan, Shandong, China.

Dairong FengCenter for Medical Genetics and Prenatal Diagnosis, Shandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao University, Jinan, Shandong, China.

Jiangbo QuCenter for Medical Genetics and Prenatal Diagnosis, Shandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao University, Jinan, Shandong, China.

Lei NieMedical Management Service Center of Health Commission of Shandong Province, Jinan, Shandong, China.

Qian LiuMedical Department, Zhejiang Biosan Biochemical Technologies Co., Ltd, Hangzhou, Zhejiang, China.

Lu GaoCenter for Medical Genetics and Prenatal Diagnosis, Shandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao University, Jinan, Shandong, China.

Wenzhen AnMedical Department, Zhejiang Biosan Biochemical Technologies Co., Ltd, Hangzhou, Zhejiang, China.

Na LiuCenter for Medical Genetics and Prenatal Diagnosis, Shandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao University, Jinan, Shandong, China.

Yuying FangCenter for Medical Genetics and Prenatal Diagnosis, Shandong Provincial Maternal and Child Health Care Hospital Affiliated to Qingdao University, Jinan, Shandong, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study assessed the diagnostic effectiveness of trio-WES compared to CMA in fetuses with ultrasound anomalies and explored optimal prenatal testing strategies. A retrospective review included 454 fetuses who underwent trio-WES and/or CMA between 2020 and 2023. Cases were divided into four groups and 19 subgroups based on improvements in diagnosing ultrasound anomalies, demonstrating that trio-WES offers greater diagnostic value than CMA-especially for skeletal and multisystem defects, as well as ultrasound findings used to determine diagnostic yields. Trio-WES achieved a diagnostic yield of 22.7% (103/454), exceeding CMA by 17%. The highest diagnostic rates were observed in skeletal anomalies (39.2%) and multisystem anomalies (29.1%). Subgroup analysis showed higher yields in crystalline lens anomalies (60.0%) and cardiac rhabdomyoma (57.1%). Trio-WES significantly enhances prenatal diagnosis of ultrasound anomalies and provides additional diagnostic insights over CMA, particularly for skeletal, multisystem defects, and specific structural subgroups. Importantly, trio-WES helps clarify the mechanisms of ROH and assess its pathogenicity, aiding in detecting imprinted disorders. These findings support including trio-WES in prenatal testing protocols for congenital malformations and establish a framework for its clinical application.

Indexed as

chromosome disordersfetal ultrasound anomaliesmicroarray analysisprenatal diagnosissingle gene disorderswhole-exome sequencing

Identifiers

PMID41367618

DOI10.3389/fgene.2025.1662801

PMCPMC12682908

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