Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Mar 23.
doi: 10.1002/pd.6780. Online ahead of print.

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

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

Ida Vogel et al. Prenat Diagn. .

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.

PubMed Disclaimer

References

    1. I. B. Van den Veyver, N. Chandler, L. E. Wilkins‐Haug, R. J. Wapner, L. S. Chitty, and Directors IBo, “International Society for Prenatal Diagnosis Updated Position Statement on the Use of Genome‐Wide Sequencing for Prenatal Diagnosis,” Prenatal Diagnosis 42, no. 6 (2022): 796–803, https://doi.org/10.1002/pd.6157.
    1. K. G. Monaghan, N. T. Leach, D. Pekarek, P. Prasad, and N. C. Rose, “The Use of Fetal Exome Sequencing in Prenatal Diagnosis: A Points to Consider Document of the American College of Medical Genetics and Genomics (ACMG),” Genetics in Medicine: official journal of the American College of Medical Genetics 22, no. 4 (2020): 675–680, https://doi.org/10.1038/s41436‐019‐0731‐7.
    1. Sundhedsstyrelsen, Retningslinjer for Fosterdiagnostik: Prænatal Information, Risikovurdering, Rådgivning Og Diagnostik (Sundhedsstyrelsen, 2004).
    1. Sundhedsstyrelsen, Retningslinjer for Fosterdiagnostik: Prænatal Information, Risikovurdering, Raadgivning Og Diagnostik, (2020), 49, https://www.sst.dk/da/Udgivelser/2020/Retningslinjer‐for‐fosterdiagnostik.
    1. FØTO, Dansk Føtalmedicinsk Database (FØTO‐Databasen). National Årsrapport 2014 (DFMS, 2015).

LinkOut - more resources