ReviewHuman genetics2020
Considerations for whole exome sequencing unique to prenatal care.
Review in Human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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
12 citing papers in PubMed.
- Prenatal diagnosis of Freeman-Sheldon syndrome using ultrasound and genetic testing. Case reportRevista colombiana de obstetricia y ginecologia · 2023Article
- Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.BMC medical genomics · 2023Article
- Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting.ESC heart failure · 2023Article
- Identification of a Novel Variant ofInternational journal of genomics · 2023Article
- The fetus in the age of the genome.Human genetics · 2022Article
- The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.Prenatal diagnosis · 2022Article
- Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?Prenatal diagnosis · 2022Article
- Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing.Prenatal diagnosis · 2022Review
- Review
- Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.Molecular genetics and metabolism · 2021Review
- Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Special issue on "Feto-Maternal Genomic Medicine": a decade of incredible advances.Human genetics · 2020Article
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
No grant is acknowledged in the PubMed record.
Abstract
Whole exome sequencing (WES) is increasingly being used in the prenatal setting. The emerging data support the clinical utility of prenatal WES based on its diagnostic yield, which can be as high as 80% for certain ultrasound findings. However, detailed practice and laboratory guidelines, addressing the indications for prenatal WES and the surrounding technical, interpretation, ethical, and counseling issues, are still lacking. Herein, we review the literature and summarize the most recent findings and applications of prenatal WES. This review offers specialists and clinical genetic laboratorians a body of evidence and expert opinions that can serve as a resource to assist in their practice. Finally, we highlight the emerging technologies that promise a future of prenatal WES without the risks associated with invasive testing.
Indexed as
Identifiers
31701237What Socratic 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 Socratic graph.