ReviewJournal of clinical medicine2014
Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis.
Review in Journal of clinical medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 1 of them a synthesis that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
40 citing papers in PubMed, 1 synthesis or guideline pooled it, 83 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
- Effect of prenatal genetic counseling on anxiety and test attitudes in pregnant women: a randomized trial.Revista da Escola de Enfermagem da U S P · 2026Trial
- Psychological Support in Prenatal Diagnosis: The Parental Perspective.Journal of clinical psychology in medical settings · 2026Article
- A lifespan pooled analysis of 832 cases: characterizing the lifespan profile of clinical presentations and comorbidities in congenital pulmonary airway malformation.Orphanet journal of rare diseases · 2026Article
- Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.Human genomics · 2025Article
- Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing.Pediatric research · 2025Review
- Analysis of Prenatal Diagnosis and Pregnancy Decisions of 767 Singleton Pregnancies With Positive Prenatal Cell-Free DNA Screening Results in Southwest China.Journal of pregnancy · 2025Article
- Childhood outcomes of fetal genomic copy-number variants: The prenatal microarray cohort study.Genetics in medicine open · 2025Article
- Uncertain significance and molecular insights of CPLANE1 variants in prenatal diagnosis of Joubert syndrome: a case report.BMC pregnancy and childbirth · 2024Article
- Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.NPJ digital medicine · 2024Article
- Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study.BMC pediatrics · 2024Article
- Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone.Archives of gynecology and obstetrics · 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
- Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings.Journal of clinical medicine · 2023Article
- Phenotype-Driven Molecular Genetic Test Recommendation for Diagnosing Pediatric Rare Disorders.Research square · 2023Article
- Prenatal whole-exome sequencing in fetuses with increased nuchal translucency.Molecular genetics & genomic medicine · 2023Article
- Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases.Translational pediatrics · 2023Review
- Perinatal outcomes and genomic characteristics of fetal copy number variants: An individual record linkage study of 713 pregnancies.Prenatal diagnosis · 2023Article
- Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.Genes · 2022Article
- Parental motivations for and adaptation to trio-exome sequencing in a prospective prenatal testing cohort: Beyond the diagnosis.Prenatal diagnosis · 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
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Prenatal genetic screening and testing provides prospective parents information about the health of their fetus. It is offered to find or address an increased risk for chromosomal abnormalities or other genetic conditions in the fetus or to identify the cause of fetal structural abnormalities detected by prenatal imaging. Genome-wide tests, such as the already widely-used chromosomal microarray analysis and emerging diagnostic whole exome and whole genome sequencing, have improved the ability to detect clinically significant findings, but have also increased the chance of detecting incidental findings and variants of uncertain significance. There is an extensive ongoing discussion about optimal strategies for diagnostic laboratories to report such findings and for providers to communicate them with patients. While consensus opinions and guidelines are beginning to appear, they often exclude the prenatal setting, due to its unique set of challenging considerations. These include more limited knowledge of the impact of genetic variants when prospectively detected in an ongoing pregnancy, the absence or limitations of detecting clinically recognizable phenotypes at the time of testing and the different decision-making processes that will ensue from testing. In this review, we examine these challenges within the medical ethical framework unique to prenatal care.
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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.