ArticlePrenatal diagnosis2026
Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing-PanelApp R21 and HPO-Driven Versus OMIM-Based Gene Lists.
Article in Prenatal diagnosis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Prenatal Use of Exome Sequencing and Chromosomal Microarray Analysis: Indications, Interpretation, and Gene Selection Strategies.Diagnostics (Basel, Switzerland) · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp-R21 or Human Phenotype Ontology (HPO)-driven gene selection terms were applied instead.
methodsDuring 9 years (2016-2024), the whole exome was sequenced in 206 pregnancies with selected fetal structural anomalies, with prospective interpretation of about 5000 morbid OMIM genes. Retrospectively, 79 causative and 19 incidental findings were reviewed and assessed for their detectability under two alternative strategies: PanelApp-R21 or HPO-driven gene lists.
resultsAmong the 79 causative genes identified by interpreting morbid OMIM genes in 78 structurally abnormal fetuses, PanelApp-R21 was able to detect 76 (96%) genes, while HPO-driven terms identified only 56 (71%). For 19 incidental findings, the PanelApp-R21 pathway could identify eight (42%), while HPO terms captured only one (5.3%).
conclusionsIn prenatal ES, reliance on HPO-driven gene selection significantly lowers diagnostic yield compared with clinical ES, with nearly one-third of primary findings and most incidental findings missed. PanelApp represents a pragmatic alternative, preserving a high primary diagnostic yield while limiting incidental findings.
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.