Evidence map›Paper›PMID 41199647›Full record

ArticleFuture science OA2025

Prenatal diagnostic value of medium-coverage WGS and clinical Exome sequencing in fetal congenital heart disease.

Jing Li, Yuanhang Zhu, Yuan Tian, Ying Li, Yunxiao Zhi, Xuezhe Ouyang, Xuewen Yang, Lei Xu, Qian Zhang, Wei Victor Zhang and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Future science OA, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
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

11 authors.

Jing LiDepartment of Medical Genetics and Prenatal Diagnosis, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Yuanhang ZhuDepartment of Medical Genetics and Prenatal Diagnosis, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Yuan TianDepartment of Medical Genetics and Prenatal Diagnosis, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Ying LiDepartment of Medical Genetics and Prenatal Diagnosis, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Yunxiao ZhiDepartment of Medical Genetics and Prenatal Diagnosis, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Xuezhe OuyangDepartment of Medical Genetics and Prenatal Diagnosis, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Xuewen YangDepartment of Medical Genetics and Prenatal Diagnosis, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.
Lei XuDepartment of Genomic Medicine, AmCare Genomics Lab, Guangzhou, Guangdong Province, China.
Qian ZhangDepartment of Genomic Medicine, AmCare Genomics Lab, Guangzhou, Guangdong Province, China.
Wei Victor ZhangDepartment of Genomic Medicine, AmCare Genomics Lab, Guangzhou, Guangdong Province, China.
Ling LiuDepartment of Medical Genetics and Prenatal Diagnosis, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan Province, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCongenital heart disease (CHD) is a leading cause of infant morbidity and mortality in China, creating a significant healthcare burden. While prenatal diagnosis via fetal echocardiography is routine, it is prone to missed diagnoses, highlighting the need to explore genetic mechanisms for improved diagnostics and management.

methodsThis retrospective study analyzed 412 fetuses diagnosed with CHD through echocardiography between December 2021 and March 2024. All parents received prenatal genetic counseling and provided informed consent for ultrasound-guided procedures. Genetic testing included Medium-Coverage Whole Genome Sequencing (CMA-seq) and Clinical Exome Sequencing (CES). CHD cases were stratified into simple or complex forms according to established pediatric cardiology criteria. Pathogenic variants were detected with CMA-seq and CES.

resultsGenetic abnormalities were found in 36.4% (150/412) of fetuses (P/LP + VUS), while the P/LP-only diagnostic yield was 19.4% (80/412). Detection was higher in non-isolated CHD cases (47.3%) compared to isolated cases (31.3%). Aneuploidies such as Trisomy 21 and 18 were commonly detected. Pathogenic copy-number variants (CNVs) were most frequent in right- and left-ventricular outflow tract obstructions. CES enhanced the detection of single nucleotide variants, particularly in complex CHD.

conclusionIntegrating CMA-seq and CES enhances prenatal CHD diagnosis by uncovering genetic etiologies, improving accuracy, and supporting personalized management strategies.

Indexed as

Congenital heart diseaseexome sequencinggenetic abnormalitiesprenatal diagnosiswhole Genome sequencing

Identifiers

PMID41199647
PMCPMC12599559

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