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 journalArticlepeer-review

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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 languageEnglish
Number of pages5
JournalPrenatal Diagnosis
Early online date11 Oct 2024
DOIs
Publication statusEarly online date - 11 Oct 2024

Keywords

  • challenges
  • exome sequencing
  • structurally normal fetuses

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