ArticlePrenatal diagnosis2026
Diagnostic Yield After Postnatal Reanalysis of Prenatal Exome Sequencing Results.
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 4 papers.
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
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Who cites it
4 citing papers in PubMed.
- Thickened Nuchal Translucency, Lymphangioma, and Ventriculomegaly: Prenatal Phenotypes for MSL2-Related Disorders.Prenatal diagnosis · 2026Article
- The Importance of Clinical Acumen for Prenatal Diagnosis in an Increasingly Technological World.Prenatal diagnosis · 2026Article
- Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling.Journal of genetic counseling · 2026Article
- The role of reanalyses in genomic sequencing for fetal effusions.American journal of obstetrics and gynecology · 2026Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
objectiveAnalysis of exome sequencing (ES) relies on correlation with phenotypic features, but fetal phenotyping is often incomplete. The additional yield of postnatal follow-up in cases with negative or inconclusive prenatal ES has not been demonstrated. Our objective was to assess the incremental diagnostic yield of ES reanalysis after initially negative prenatal ES for congenital anomalies incorporating features identified postnatally.
methodsThis was a secondary analysis of two prospective cohort studies of ES for fetal anomalies. We included cases in which initial ES utilizing the prenatal phenotype was not diagnostic. The primary outcome was incremental diagnostic yield of ES when incorporating postnatal findings.
resultsEighty-seven cases with negative or inconclusive prenatal ES and postnatal follow-up available were included. Of those, 56 (64%) had new findings postnatally. There was an incremental yield of 2% in the entire cohort, and 7% in those with new postnatal findings. In two additional cases, postnatal evaluation suggested a specific genetic diagnosis that was not detectable with ES.
conclusionAmong pregnancies with fetal anomalies and no clear diagnosis identified by prenatal ES, postnatal follow-up is recommended. Reanalysis of ES results can result in a genetic diagnosis in 7% of cases with new findings.
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Registered trials
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