SynthesisPrenatal diagnosis2026
Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis.
Synthesis in Prenatal diagnosis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis.Prenatal diagnosis · 2026Pooled it
- Diagnostic yield of exome and genome sequencing for critically ill pediatric cardiac patients.Translational pediatrics · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThis systematic review and meta-analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD).
methodsA systematic search of three databases (2000-2024) was conducted, and two reviewers independently screened studies and extracted data following PRISMA and MOOSE guidelines. Pooled proportions were calculated using a random-effects model, and study quality was assessed using modified STARD criteria.
resultsFourteen studies were included, comprising 933 CHD cases, of which 165 had P/LP SNVs. The overall diagnostic yield of WGS for P/LP SNVs was 17.83%, with a yield of 9.83% in isolated CHD cases (without other abnormalities) and 22.36% in syndromic cases (with extracardiac anomalies, developmental abnormalities, or distinctive features). Among 105 cases from four studies with negative chromosomal microarray (CMA) results, 20 had subsequently positive findings by WGS, yielding a 20% incremental diagnostic benefit of WGS over CMA.
conclusionsThese findings highlight the utility of WGS in identifying clinically relevant SNVs in CHD and suggest that WGS should be considered in the diagnostic workup of CHD, particularly in syndromic cases, to guide personalized management and multidisciplinary care. PROSPERO REGISTRATION: CRD42025634370.
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