ReviewSeminars in perinatology2025
Prenatal genomic sequencing: Navigating uncertainty.
Review in Seminars in perinatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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
6 citing papers in PubMed.
- CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal Phenotype.Prenatal diagnosis · 2026Article
- Article
- Prenatal Whole-Genome Sequencing for Fetal Anomalies: Diagnostic Performance, Challenges, and Clinical Implications.International journal of molecular sciences · 2026Review
- Genomic testing in gamete donors: clinicians' perspectives on recontact and pre-donation genetic counseling.Journal of assisted reproduction and genetics · 2026Article
- Advancements in Prenatal Genetic Screening and Testing: Emerging Technologies and Evolving Applications.Diagnostics (Basel, Switzerland) · 2025Review
- The potential clinical and public health implications of presymptomatic genetic testing for transthyretin amyloidosis in African American/Black adults in the United States.Frontiers in genetics · 2025Article
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
Abstract
Prenatal genomic sequencing is now routine for fetal structural anomalies. Prenatal genomic sequencing results inform medical decision-making and guide pre and postnatal management by identifying associated clinical features, allowing planning, coordination, and timely treatment and avoiding unnecessary additional diagnostic tests. However, clinical details are limited in the prenatal setting making diagnostic certainty more difficult. This leads to more frequent variants of uncertain significance (VUS) and accompanying questions of if and when to report VUS. We review current practices and recommendations on reporting VUS and include perspectives of parents. However, there are no clear recommendations for reporting uncertain prenatal results. With greater access to prenatal phenotypes from retrospective and prospective prenatal cases and postnatal cases with the same recurrent variant, there should be greater certainty of results and lower frequency of VUS over time.
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.