Whole Exome Sequencing: Applications in Prenatal Genetics

Angie C Jelin; Neeta Vora

doi:10.1016/j.ogc.2017.10.003

Whole Exome Sequencing: Applications in Prenatal Genetics

Obstet Gynecol Clin North Am. 2018 Mar;45(1):69-81. doi: 10.1016/j.ogc.2017.10.003.

Authors

Angie C Jelin¹, Neeta Vora²

Affiliations

¹ Division of Maternal-Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins School of Medicine, 500 North Wolfe Street, Phipps 222, Baltimore, MD 21218, USA.
² Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill, 3010 Old Clinic Building/Cb# 7516, Chapel Hill, NC 27599, USA. Electronic address: neeta_vora@med.unc.edu.

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.

Keywords: Abnormalities; Exome; Fetal; Prenatal ultrasonography; Sequencing.

Publication types

Review

MeSH terms

Exome Sequencing / methods*
Female
Genetic Counseling
Genetic Diseases, Inborn / diagnosis*
Genetic Diseases, Inborn / therapy
Genetic Testing / methods*
Humans
Pregnancy
Prenatal Diagnosis / methods*
Risk Assessment
Ultrasonography, Prenatal

Abstract

Publication types

MeSH terms

Grants and funding