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

Ida Vogel; Lotte Andreasen; Marie Balslev-Harder; Naja Becher; Anja Ernst; Kasper Gadsbøll; Tina Duelund Hjortshøj; Marie Skov Hvidbjerg; Martin Larsen; Stina Lou; Ida Charlotte Bay Lund; Lars Henning Pedersen; Laura Kirstine Sønderberg Roos; Lene Sperling; Lone Sunde; Pernille Mathiesen Tørring; Cathrine Vedel; Olav Bjørn Petersen

doi:10.1002/pd.6780

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

Ida Vogel, Lotte Andreasen, Marie Balslev-Harder, Naja Becher, Anja Ernst, Kasper Gadsbøll, Tina Duelund Hjortshøj, Marie Skov Hvidbjerg, Martin Larsen, Stina Lou, Ida Charlotte Bay Lund, Lars Henning Pedersen, Laura Kirstine Sønderberg Roos, Lene Sperling, Lone Sunde, Pernille Mathiesen Tørring, Cathrine Vedel, Olav Bjørn Petersen

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

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.

Original language	English
Journal	Prenatal Diagnosis
ISSN	0197-3851
DOIs	https://doi.org/10.1002/pd.6780
Publication status	E-pub / Early view - 23 Mar 2025

Keywords

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

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Vogel, I., Andreasen, L., Balslev-Harder, M., Becher, N., Ernst, A., Gadsbøll, K., Hjortshøj, T. D., Hvidbjerg, M. S., Larsen, M., Lou, S., Bay Lund, I. C., Pedersen, L. H., Sønderberg Roos, L. K., Sperling, L., Sunde, L., Tørring, P. M., Vedel, C., & Petersen, O. B. (2025). Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare. Prenatal Diagnosis. Advance online publication. https://doi.org/10.1002/pd.6780

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

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",

author = "Ida Vogel and Lotte Andreasen and Marie Balslev-Harder and Naja Becher and Anja Ernst and Kasper Gadsb{\o}ll and Hjortsh{\o}j, {Tina Duelund} and Hvidbjerg, {Marie Skov} and Martin Larsen and Stina Lou and {Bay Lund}, {Ida Charlotte} and Pedersen, {Lars Henning} and {S{\o}nderberg Roos}, {Laura Kirstine} and Lene Sperling and Lone Sunde and T{\o}rring, {Pernille Mathiesen} and Cathrine Vedel and Petersen, {Olav Bj{\o}rn}",

note = "{\textcopyright} 2025 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.",

year = "2025",

month = mar,

day = "23",

doi = "10.1002/pd.6780",

language = "English",

journal = "Prenatal Diagnosis",

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Vogel, I , Andreasen, L, Balslev-Harder, M, Becher, N, Ernst, A, Gadsbøll, K, Hjortshøj, TD, Hvidbjerg, MS, Larsen, M, Lou, S , Bay Lund, IC , Pedersen, LH, Sønderberg Roos, LK, Sperling, L, Sunde, L, Tørring, PM, Vedel, C & Petersen, OB 2025, 'Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare', Prenatal Diagnosis. https://doi.org/10.1002/pd.6780

Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare. / Vogel, Ida ; Andreasen, Lotte; Balslev-Harder, Marie et al.
In: Prenatal Diagnosis, 23.03.2025.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

TY - JOUR

T1 - Whole Genome Sequencing in Prenatal Diagnostics

T2 - The Danish Approach to Guideline Formation and Implementation Within Public Healthcare

AU - Vogel, Ida

AU - Andreasen, Lotte

AU - Balslev-Harder, Marie

AU - Becher, Naja

AU - Ernst, Anja

AU - Gadsbøll, Kasper

AU - Hjortshøj, Tina Duelund

AU - Hvidbjerg, Marie Skov

AU - Larsen, Martin

AU - Lou, Stina

AU - Bay Lund, Ida Charlotte

AU - Pedersen, Lars Henning

AU - Sønderberg Roos, Laura Kirstine

AU - Sperling, Lene

AU - Sunde, Lone

AU - Tørring, Pernille Mathiesen

AU - Vedel, Cathrine

AU - Petersen, Olav Bjørn

PY - 2025/3/23

Y1 - 2025/3/23

N2 - 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.

AB - 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.

KW - Denmark

KW - clinical guidelines

KW - diagnostic yield

KW - genomic medicine

KW - prenatal diagnostics

KW - prenatal screening and diagnostic technologies

KW - public healthcare system

KW - whole genome sequencing

UR - http://www.scopus.com/inward/record.url?scp=105000738948&partnerID=8YFLogxK

U2 - 10.1002/pd.6780

DO - 10.1002/pd.6780

M3 - Journal article

C2 - 40122702

SN - 0197-3851

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

ER -

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

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