ArticlePrenatal diagnosis2026
Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?
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 4 papers, 2 of them syntheses that pooled 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.
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.
Who cites it
4 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- A Framework for Bioinformatic Reporting in Prenatal Sequencing: Insights From a Systematic Review.Prenatal diagnosis · 2026Pooled it
- Diagnostic Yield of Sequencing for Prenatal Diagnosis of Fetal Structural Anomalies: An Updated Systematic Review.Prenatal diagnosis · 2026Pooled it
- Global recommendations for the use of diagnostic genomic sequencing in the prenatal setting on behalf of the ESHG and ISPD.European journal of human genetics : EJHG · 2026Article
- Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?Prenatal diagnosis · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
objectiveThe development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing performed, laboratory and analytical processes, multidisciplinary team working, reporting practices, quality, reanalysis and data sharing.
methodA draft survey was developed and reviewed by members of the International Society of Prenatal Diagnosis (ISPD) and revised accordingly. Questions were developed with the aim of ascertaining how prenatal sequencing services are being conducted and results reported. The survey was distributed to members of all GenQA registered laboratories and ISPD members.
resultsResponses were received from 101 individuals from a range of specialisms. The results show a high degree of variability in how laboratories are conducting, analysing and reporting foetal sequencing tests.
conclusionThe survey results demonstrate the need for global guidance on issues related specifically to prenatal sequencing. To include: the role of the clinical team prior to testing, the scope and limitations of sequencing, multidisciplinary working to interpret the data, the handling unexpected findings and clear, accurate reporting of the results.
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Identifiers
What OpenQuestion holds
Registered trials
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.