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Article

Diagnostic yield and clinical impact of prenatal whole exome sequencing (WES) - four-year single center experience.

Journal of perinatal medicine - 24 Feb 2026

Janssens Katleen, De Rademaeker Marjan, Muys Joke, Blaumeiser Bettina, Janssens Katrien

Abstract excerpt

OBJECTIVES: This study evaluates the diagnostic yield of prenatal whole exome sequencing (WES) and its impact on outcome, such as termination of pregnancy (TOP) or neonatal management. METHODS: A retrospective analysis of more than 4 years of prenatal WES at a single genetic center was performed. Inclusion criteria included normal genome-wide deletion/duplication analysis and ≥1 ultrasound anomaly. Trio analysis...

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Exome Sequencing
Infant, Newborn
Phenotype
Pregnancy
Prenatal Diagnosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ultrasonography, Prenatal

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PMID: 41139937
DOI: 10.1515/jpm-2025-0302

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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