Prenat Diagn

. 2025 Mar 23.

 doi: 10.1002/pd.6780. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/40122702/

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

Ida Vogel ^1 2 3 4, Lotte Andreasen ⁴, Marie Balslev-Harder ⁵, Naja Becher ^2 4, Anja Ernst ⁶, Kasper Gadsbøll ^7 8, Tina Duelund Hjortshøj ⁵, Marie Skov Hvidbjerg ⁶, Martin Larsen ⁹, Stina Lou ^2 10, Ida Charlotte Bay Lund ^2 4 11, Lars Henning Pedersen ^1 3 11, Laura Kirstine Sønderberg Roos ⁵, Lene Sperling ¹², Lone Sunde ⁶, Pernille Mathiesen Tørring ⁹, Cathrine Vedel ^5 7, Olav Bjørn Petersen ^7 8

Affiliations Expand

• PMID: 40122702
• DOI: 10.1002/pd.6780

Abstract

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 factor in prioritizing WGS for various phenotypes, improving diagnostic accuracy and informing clinical decisions. Phenotypes for WGS include nuchal translucency ≥ 6.0 mm, multiple anomalies, skeletal dysplasia, neuromuscular diseases, non-immune hydrops fetalis, central nervous system malformations, congenital diaphragmatic hernia and severe fetal growth restriction (< 3 SDs not explained by placental insufficiency). Small regional variations exist in indications, bioinformatics, and funding, but WGS is now routinely used nationwide for these indications.

Conclusion: The Danish Fetal Medicine Society’s guideline development, emphasizing diagnostic yield and gradual implementation, has supported the relatively uniform integration of WGS into prenatal diagnostics.

Keywords: Denmark; clinical guidelines; diagnostic yield; genomic medicine; prenatal diagnostics; prenatal screening and diagnostic technologies; public healthcare system; whole genome sequencing.

© 2025 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.