Evidence map›Paper›PMID 40122702›Full record

ArticlePrenatal diagnosis2026

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 and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Prenatal diagnosis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Ida VogelDepartment of Clinical Medicine, Aarhus University, Aarhus, Denmark.ORCID 0000-0002-1125-0393
Lotte AndreasenDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.ORCID 0000-0002-4901-4214
Marie Balslev-HarderDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.ORCID 0000-0002-3836-5393
Naja BecherCenter for Fetal Diagnostics, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.ORCID 0000-0003-1264-1940
Anja ErnstDepartment of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.ORCID 0000-0001-5120-9259
Kasper GadsbøllCenter for Fetal Medicine, Pregnancy and Ultrasound, Department of Gynecology, Fertility and Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Tina Duelund HjortshøjDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Marie Skov HvidbjergDepartment of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.ORCID 0000-0002-0304-4784
Martin LarsenDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.ORCID 0000-0003-4107-8771
Stina LouCenter for Fetal Diagnostics, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
Ida Charlotte Bay LundCenter for Fetal Diagnostics, Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.ORCID 0000-0001-5480-220X
Lars Henning PedersenDepartment of Clinical Medicine, Aarhus University, Aarhus, Denmark.ORCID 0000-0001-6726-1991
Laura Kirstine Sønderberg RoosDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.ORCID 0000-0001-9352-701X
Lene SperlingDepartment of Obstetrics and Gynecology, Odense University Hospital, Odense, Denmark.
Lone SundeDepartment of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
Pernille Mathiesen TørringDepartment of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Cathrine VedelDepartment of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.ORCID 0000-0001-7475-513X
Olav Bjørn PetersenCenter for Fetal Medicine, Pregnancy and Ultrasound, Department of Gynecology, Fertility and Obstetrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.ORCID 0000-0001-8517-4082

Funding

Novo Nordisk Fonden NNF16OC0018772Novo Nordisk Fonden NNFSA170030576
6 · The paper itself

Abstract

objectiveTo describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this.

methodsClinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.

resultsGuidelines 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.

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

Indexed as

Practice Guidelines as TopicPrenatal DiagnosisWhole Genome SequencingDenmarkFemaleHumansPregnancyclinical guidelinesDenmarkdiagnostic yieldgenomic medicineprenatal diagnosticsprenatal screening and diagnostic technologiespublic healthcare systemwhole genome sequencing

Identifiers

PMID40122702
PMCPMC13170064

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.