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Article

Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications.

International journal of molecular sciences - 16 Apr 2026

Kamlungkuea Threebhorn, Traisrisilp Kuntharee, Luewan Suchaya, Klangjorhor Jeerawan, Wattanasirichaigoon Duangrurdee, Tongprasert Fuanglada

Abstract excerpt

Prenatal whole-genome sequencing (WGS) is a comprehensive genetic test for fetal anomalies, enabling simultaneous detection of aneuploidies, copy number variants (CNVs), single-nucleotide variants (SNVs), small insertions/deletions, structural variants, and regions of absence of heterozygosity. However, its clinical performance, optimal sequencing strategies, and implementation challenges remain incompletely...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42074207
DOI: 10.3390/ijms27083568
PMCID: PMC13115705

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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