Whole Exome Sequencing: Applications in Prenatal Genetics

Angie C. Jelin, Neeta Vora

Research output: Contribution to journalReview articlepeer-review

Abstract

Prenatal whole exome sequencing (WES) has the potential to increase the ability to provide more diagnostic capabilities in fetuses with sonographic abnormalities, which would then improve the ability to counsel families. It is also often the first step in improving the path toward informed diagnosis and treatment, which is especially important in the era of advancing in utero fetal therapy. This article discusses the current literature regarding prenatal WES, clinical indications for WES, challenges with interpretation/counseling (variants of unknown significance), research priorities, ethical issues, and potential future advances.

Original languageEnglish (US)
Pages (from-to)69-81
Number of pages13
JournalObstetrics and Gynecology Clinics of North America
Volume45
Issue number1
DOIs
StatePublished - Mar 2018

Keywords

  • Abnormalities
  • Exome
  • Fetal
  • Prenatal ultrasonography
  • Sequencing

ASJC Scopus subject areas

  • Obstetrics and Gynecology

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