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
N1 - © 2025 The Author(s). Prenatal Diagnosis published by John Wiley & Sons Ltd.
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
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 -