What question did this study set out to answer?

The study aims to enhance understanding of prenatal exome testing and its implications for genetic disorders.

April 10, 2026Open Access

Prenatal Exome Diagnostic Yield, Syndromic Landscape and Secondary Findings

Key Points

The study aims to enhance understanding of prenatal exome testing and its implications for genetic disorders.
Analysis of advancements in exome testing technologies.
Review of laboratory offerings and related professional guidelines.
Assessment of the impact on the exome consenting process.
Identified increased diagnostic yield in prenatal exome testing.
Highlighted a broader spectrum of genetic disorders and phenotypes.
Outlined the importance of staying informed for healthcare teams.

Abstract

The aim of this study is to provide meaningful information that can aid in the exome consenting process as improvements in testing technologies and laboratory offerings evolve in response to developments in genetic understanding and professional guidelines. As such, it is crucial for healthcare teams to stay abreast of the increased scope of testing, potential test outcomes, and the phenotypic expansion of various genetic disorders.

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Discussion

Authors

Kayleigh Avello

Shawn Gessay

Megan Nelson

Journals

Molecular Genetics & Genomic Medicine

Actions

Institutions

Exact Sciences (United States)

Texas Health and Science University

References and Citations

Connected Papers

Building similarity graph...

Analyzing shared references across papers

Prenatal Exome Diagnostic Yield, Syndromic Landscape and Secondary Findings

Key Points

Abstract

Citation Network

Connected Papers

Discussion

Authors

Journals

Actions

Institutions

References and Citations

Citation Network

Connected Papers

Discussion

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