ArticlePrenatal diagnosis2021
Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals.
Article in Prenatal diagnosis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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
17 citing papers in PubMed.
- Trial
- "The Way We Do Things is Unsustainable"-Exploring Symptoms of Burnout Among Healthcare Professionals in Prenatal Genomics.Prenatal diagnosis · 2026Article
- The Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.Prenatal diagnosis · 2026Article
- Prenatal Use of Exome Sequencing and Chromosomal Microarray Analysis: Indications, Interpretation, and Gene Selection Strategies.Diagnostics (Basel, Switzerland) · 2026Review
- Readiness for Prenatal Genomic Medicine: A Cross-Sectional Survey of Obstetricians' Competence and Attitudes Toward Whole-Exome Sequencing in Xinjiang, China.International journal of women's health · 2026Article
- The impact of uncertainty on disclosure of prenatal exome sequencing results: A vignette study among medical students.PloS one · 2026Article
- Article
- Midwives 'views of parents' questions and expectations on prenatal genetic testing - identifying informational needs in prenatal genetic counselling.Journal of community genetics · 2025Article
- Prenatal Variants of Uncertain Significance (VUS): to report or not to report?European journal of human genetics : EJHG · 2025Article
- A scoping review of the development of genetic counseling practices in Asia.Journal of genetic counseling · 2025Article
- Prenatal genomic sequencing: Navigating uncertainty.Seminars in perinatology · 2025Review
- Article
- Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.Frontiers in genetics · 2024Article
- Attitudes toward uncertain results from prenatal exome sequencing: a national survey among healthcare professionals working in the prenatal setting.Frontiers in medicine · 2024Article
- Laboratory performance of genome-wide cfDNA for copy number variants as compared to prenatal microarray.Molecular cytogenetics · 2023Article
- Factors that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey.Prenatal diagnosis · 2022Review
- Parental Hopes and Understandings of the Value of Prenatal Diagnostic Genomic Sequencing: A Qualitative Analysis.Frontiers in genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors.
Funding
Abstract
objectivesTo conduct qualitative interviews with healthcare providers working in different countries to understand their experiences of dealing with uncertain results from prenatal chromosome microarray analysis (CMA) and exome sequencing (ES).
methodsSemi-structured interviews with 31 healthcare providers who report or return prenatal CMA and/or ES results (clinicians, genetic counsellors and clinical scientists) in six countries with differing healthcare systems; Australia (4), Denmark (5), Netherlands (6), Singapore (4), Sweden (6) and United Kingdom (6). The topic guide explored the main sources of uncertainty and their management.
resultsThere was variation in reporting practices both between and across countries for variants of uncertain significance, however, there was broad agreement on reporting practices for incidental findings. There was also variation in who decides what results are reported (clinical scientists or clinicians). Technical limitations and lack of knowledge (to classify variants and of prenatal phenotypes) were significant challenges, as were turnaround times and lack of guidelines.
conclusionHealth professionals around the globe are dealing with similar sources of uncertainty, but managing them in different ways, Continued dialogue with international colleagues on ways of managing uncertain results is important to compare and contrast the benefits and limitations of the different approaches.
Indexed as
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.