ArticlePrenatal diagnosis2018
Ethical and counseling challenges in prenatal exome sequencing.
Article in Prenatal diagnosis, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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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
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 37 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
- Midwives 'views of parents' questions and expectations on prenatal genetic testing - identifying informational needs in prenatal genetic counselling.Journal of community genetics · 2025Article
- Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals.European journal of human genetics : EJHG · 2025Article
- Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.Prenatal diagnosis · 2025Review
- Attitudes toward uncertain results from prenatal exome sequencing: a national survey among healthcare professionals working in the prenatal setting.Frontiers in medicine · 2024Article
- Lack of consensus among healthcare professionals at a large academic medical center on the use of exome sequencing for prenatal diagnosis.Journal of genetic counseling · 2022Article
- Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.Genome medicine · 2022Article
- Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy.Prenatal diagnosis · 2022Article
- Parental motivations for and adaptation to trio-exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis.Prenatal diagnosis · 2022Article
- The fetus in the age of the genome.Human genetics · 2022Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
- The Special Features of Prenatal and Preimplantation Genetic Counseling in Arab Countries.Genes · 2022Review
- Parental Hopes and Understandings of the Value of Prenatal Diagnostic Genomic Sequencing: A Qualitative Analysis.Frontiers in genetics · 2022Article
- "Let's Just Wait Until She's Born": Temporal Factors That Shape Decision-Making for Prenatal Genomic Sequencing Amongst Families Underrepresented in Genomic Research.Frontiers in genetics · 2022Article
- Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.Diagnostics (Basel, Switzerland) · 2021Review
- Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test.Acta bio-medica : Atenei Parmensis · 2020Article
- Molecular diagnostic in fetuses with isolated congenital anomalies of the kidney and urinary tract by whole-exome sequencing.Journal of clinical laboratory analysis · 2020Observational
- The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Prenatal Diagnosis for Primary Immunodeficiency Disorders-An Overview of the Indian Scenario.Frontiers in immunology · 2020Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
objectiveEthical and counseling challenges are expected with the introduction of prenatal whole exome sequencing. In this study, we describe specific challenges identified through the UNC-Chapel Hill Prenatal Exome Sequencing Study.
methodsParticipants were a subset of women participating in the fetal exome study, which has enrolled 73 mother-father-fetus trios in pregnancies diagnosed with structural anomalies and normal standard genetic testing results. In this descriptive study, cases were reviewed by members of the research team, including a bioethicist, to identify counseling challenges. Illustrative cases were chosen by group consensus.
resultsFour illustrative cases were identified for further analysis. Challenges included need for adequate counseling and informed consent, challenges in prenatal variant interpretation, performing prenatal diagnosis in subsequent pregnancies, inability to identify a genetic etiology, and identifying parental secondary findings.
conclusionOur study illustrates several challenges identified in an ongoing prenatal exome study. While genomic medicine is a powerful tool for prenatal diagnosis, it is important that clinicians understand the ethical implications and parental perceptions of this testing modality.
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Registered trials
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