The challenges of performing exome sequencing in structurally normal fetuses

Natalie Chandler; Muriel Holder-Espinasse; Fionnuala Mone

doi:10.1002/pd.6687

The challenges of performing exome sequencing in structurally normal fetuses

Natalie Chandler
, Muriel Holder-Espinasse
, Fionnuala Mone^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

44 Downloads (Pure)

Abstract

What’s already known about this topic?
•Exome sequencing in structurally normal fetuses is not currently representatative of wider routine clinical practice internationally

What does this study add?
•This summates recent evidence regarding studies assessing the clinical utility of prenatal exome sequencing in structurally normal fetuses
•This highlights the interpretational and ethical challenges posed by performing prenatal sequencing in this scenario

Original language	English
Pages (from-to)	294-298
Number of pages	5
Journal	Prenatal Diagnosis
Volume	45
Issue number	3
Early online date	11 Oct 2024
DOIs	https://doi.org/10.1002/pd.6687
Publication status	Published - Mar 2025

Keywords

challenges
exome sequencing
structurally normal fetuses

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10.1002/pd.6687Licence: CC BY

The challenges of performing exome sequencing in structurally normal fetuses
Copyright 2024 the authors. This is an open access article published under a Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium, provided the author and source are cited.
Final published version, 344 KBLicence: CC BY

Exome sequencing in structurally normal fetuses
Mone, F. (Invited speaker)
03 Nov 2024
Activity: Talk or presentation types › Invited talk

Cite this

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title = "The challenges of performing exome sequencing in structurally normal fetuses",

abstract = "What{\textquoteright}s already known about this topic? •Exome sequencing in structurally normal fetuses is not currently representatative of wider routine clinical practice internationally What does this study add? •This summates recent evidence regarding studies assessing the clinical utility of prenatal exome sequencing in structurally normal fetuses •This highlights the interpretational and ethical challenges posed by performing prenatal sequencing in this scenario ",

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AB - What’s already known about this topic? •Exome sequencing in structurally normal fetuses is not currently representatative of wider routine clinical practice internationally What does this study add? •This summates recent evidence regarding studies assessing the clinical utility of prenatal exome sequencing in structurally normal fetuses •This highlights the interpretational and ethical challenges posed by performing prenatal sequencing in this scenario

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U2 - 10.1002/pd.6687

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The challenges of performing exome sequencing in structurally normal fetuses

Abstract

Keywords

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Exome sequencing in structurally normal fetuses

Cite this