ArticleBJOG : an international journal of obstetrics and gynaecology2025
Implementation of a National Prenatal Exome Sequencing Service in England: Cost-Effectiveness Analysis.
Article in BJOG : an international journal of obstetrics and gynaecology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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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.
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.
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Who cites it
2 citing papers in PubMed.
- Technological Advances in Molecular Diagnostic Methods for Hereditary Diseases in Preconception and Prenatal Settings.Current issues in molecular biology · 2026Review
- The evolution of prenatal Whole Exome Sequencing: from cytogenetics to precision medicine.Archive of clinical cases · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
Abstract
objectivePrenatal exome sequencing (pES) for diagnosing fetal structural anomalies commenced in the English National Health Service (NHS) in 2020. We evaluated cost-effectiveness to the healthcare system, and costs to families, of pES in addition to standard testing, compared to standard testing alone.
designA cost-effectiveness analysis combining costs, outcomes, parent and professional interview and professional survey data.
settingThe English NHS Genomic Medicine Service. SAMPLE: 413 families with fetal anomalies with a suspected genetic cause referred for pES from 01 October 2021 to 30 June 2022.
methodsWe costed the incremental resource required to deliver the pES clinical pathway. We calculated the diagnostic yield (proportion of cases with pathogenic variants). We divided the total incremental cost by the number of cases with a diagnosis to calculate cost-effectiveness. We estimated the annual NHS budget requirement based on case numbers. We determined parental costs from interviews.
main outcome measuresIncremental costs of pES to the NHS and families, incremental cost per additional diagnosis and NHS budget impact.
resultsOf 413 referred cases, 241 were tested, at a cost of £2331 (95% credibility interval £1894-£2856) per referred case or £3592 (£2959-£4250) per case that proceeded with testing. The incremental cost per diagnosis (yield 35.3%) was £11 326 (£8582-£15 361). Based on referrals data 01 October 2022 to 30 September 2023, pES costs the NHS £1.8 m annually. Family costs could not be separated from other pregnancy-related appointments but were not considered burdensome; most appointments were concurrent or remote.
conclusionpES costs the English NHS £11 326 for each additional diagnosis. Incremental costs to families are negligible.
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Registered trials
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