ArticleJournal of genetic counseling2018
Exploring the Issues Surrounding Clinical Exome Sequencing in the Prenatal Setting.
Article in Journal of genetic counseling, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis 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
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- What's out there for parents? A systematic review of online information about prenatal microarray and exome sequencing.Prenatal diagnosis · 2022Pooled it
- "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
- 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
- Insights and Experiences From the 'Gatekeepers': A Qualitative Study Exploring Clinician Perspectives on Providing Publicly Funded Prenatal Exome Sequencing.The Australian & New Zealand journal of obstetrics & gynaecology · 2025Article
- Advancing precision care in pregnancy through a treatable fetal findings list.American journal of human genetics · 2025Review
- Attitudes toward uncertain results from prenatal exome sequencing: a national survey among healthcare professionals working in the prenatal setting.Frontiers in medicine · 2024Article
- Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.Frontiers in genetics · 2024Article
- Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?Prenatal diagnosis · 2023Article
- Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool.Frontiers in genetics · 2023Article
- Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?Prenatal diagnosis · 2022Article
- The fetus in the age of the genome.Human genetics · 2022Article
- Parental Hopes and Understandings of the Value of Prenatal Diagnostic Genomic Sequencing: A Qualitative Analysis.Frontiers in genetics · 2022Article
- Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals.Prenatal diagnosis · 2021Article
- Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.Diagnostics (Basel, Switzerland) · 2021Review
- Application of exome sequencing for prenatal diagnosis: a rapid scoping review.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Considerations for whole exome sequencing unique to prenatal care.Human genetics · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Exome sequencing is a clinical diagnostic test offered primarily for children and adults with suspected genetic conditions. The purpose of this study was to explore issues related to exome sequencing in a reproductive clinical setting. This was a qualitative study using semi-structured interviews. Participants were professionals drawn from four key stakeholder groups-healthcare providers, laboratory/industry, ethics, and government. Transcribed interviews were analyzed for emergent themes. Most participants saw potential clinical utility in offering prenatal exome sequencing for diagnostic purposes as opposed to screening. Participants expressed similar challenges already encountered with using exome sequencing in a pediatric setting, such as difficulty interpreting results and voiced many of the same concerns posed by prenatal testing, such as adequate pretest counseling. While previously reported issues and challenges were mentioned, participants agreed those difficulties are anticipated to be much greater with prenatal exome sequencing because of the scope of testing and the option for pregnancy decision-making. The results of this study help gain a better understanding of the implications of using exome sequencing in a prenatal setting. Development of guidelines is also warranted to aid clinical practice and laboratory standards for reporting prenatal results.
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.