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

Our findings indicate that in 1/5 pregnancies with ultrasound anomalies and normal deletion/duplication analysis, a (likely) pathogenic variant explaining the phenotype can be identified. The high proportion (17/36 or 47.2 %) of inherited variants highlights the importance of WES for recurrence risk assessment.

Authors

Katrien Janssens (ORCID: https://orcid.org/0000-0002-3249-731X)
Joke Muys (ORCID: https://orcid.org/0000-0001-6414-7464)
Bettina Blaumeiser (ORCID: https://orcid.org/0000-0001-9993-7319)
Marjan De Rademaeker
Katleen Janssens (ORCID: https://orcid.org/0000-0003-3987-4592)

Institutions

Antwerp University Hospital (BE)

Publication Details

Journal: Journal of Perinatal Medicine
Published: 2025-10-27
DOI: https://doi.org/10.1515/jpm-2025-0302
Primary Topic: Genomics and Rare Diseases
Type: article
Field-Weighted Citation Impact: 0.00

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article

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

Katrien Janssens, Joke Muys, Bettina Blaumeiser, Marjan De Rademaeker et al.

Oct 27, 2025

Journal of Perinatal Medicine

Genomics and Rare Diseases

article

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

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

October 27, 2025article en

Abstract

Our findings indicate that in 1/5 pregnancies with ultrasound anomalies and normal deletion/duplication analysis, a (likely) pathogenic variant explaining the phenotype can be identified. The high proportion (17/36 or 47.2 %) of inherited variants highlights the importance of WES for recurrence risk assessment.

Journal of Perinatal MedicineVol. 54(2)

Antwerp University Hospital (BE)

Openalex Percentile: Top 67%

Genomics and Rare Diseases

DOI Open Access PDF OpenAlex

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Diagnostic yield and clinical impact of prenatal whole exome sequencing (WES) – four-year single center experience — Katrien Janssens, Joke Muys, et al. · Journal of Perinatal Medicine (2025) | TGRS Research Map | TGRS