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Article

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta-Analysis.

Prenatal diagnosis - 1 May 2026

Mustafa Hiba J, Najjariasl Parisa, Aghajani Faezeh, Sambatur Enaja V, Rodenbarger Andrew, Guseh Stephanie, Roberts Amy E, Shamshirsaz Alireza A

Abstract excerpt

OBJECTIVE: This 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). METHODS: A systematic search of three databases (2000-2024) was conducted, and two reviewers independently screened studies and extracted data following PRISMA and MOOSE...

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Identifiers

PMID: 40908116
DOI: 10.1002/pd.6878
PMCID: PMC13170038

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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