| Literature DB >> 29428287 |
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.Entities:
Keywords: Abnormalities; Exome; Fetal; Prenatal ultrasonography; Sequencing
Mesh:
Year: 2018 PMID: 29428287 PMCID: PMC5813701 DOI: 10.1016/j.ogc.2017.10.003
Source DB: PubMed Journal: Obstet Gynecol Clin North Am ISSN: 0889-8545 Impact factor: 2.844