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Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

23 Mar 2025

Abstract excerpt

OBJECTIVE: To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. METHODS: Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society. RESULTS: Guidelines were developed by expert consensus following a review of 75 studies. Diagnostic yield served as a key...

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PMID: 40122702
DOI: 10.1002/pd.6780

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