J. Clin. Med. 2014, 3(3), 747-762; doi:10.3390/jcm3030747
Review

Exome Sequencing in Fetuses with Structural Malformations

1,2,* email, 3email, 1email, 3email and 1,2email
Received: 10 April 2014; in revised form: 8 May 2014 / Accepted: 19 May 2014 / Published: 8 July 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 2)
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract: Prenatal diagnostic testing is a rapidly advancing field. An accurate diagnosis of structural anomalies and additional abnormalities in fetuses with structural anomalies is important to allow “triage” and designation of prognosis. This will allow parents to make an informed decision relating to the pregnancy. This review outlines the current tests used in prenatal diagnosis, focusing particularly on “new technologies” such as exome sequencing. We demonstrate the utility of exome sequencing above that of conventional karyotyping and Chromosomal Microarray (CMA) alone by outlining a recent proof of concept study investigating 30 parent-fetus trios where the fetus is known to have a structural anomaly. This may allow the identification of pathological gene anomalies and consequently improved prognostic profiling, as well as excluding anomalies and distinguishing between de novo and inherited mutations, in order to estimate the recurrence risk in future pregnancies. The potential ethical dilemmas surrounding exome sequencing are also considered, and the future of prenatal genetic diagnosis is discussed.
Keywords: exome sequencing; prenatal; fetus; prenatal diagnosis
PDF Full-text Download PDF Full-Text [200 KB, uploaded 8 July 2014 14:14 CEST]

Export to BibTeX |
EndNote


MDPI and ACS Style

Mackie, F.L.; Carss, K.J.; Hillman, S.C.; Hurles, M.E.; Kilby, M.D. Exome Sequencing in Fetuses with Structural Malformations. J. Clin. Med. 2014, 3, 747-762.

AMA Style

Mackie FL, Carss KJ, Hillman SC, Hurles ME, Kilby MD. Exome Sequencing in Fetuses with Structural Malformations. Journal of Clinical Medicine. 2014; 3(3):747-762.

Chicago/Turabian Style

Mackie, Fiona L.; Carss, Keren J.; Hillman, Sarah C.; Hurles, Matthew E.; Kilby, Mark D. 2014. "Exome Sequencing in Fetuses with Structural Malformations." J. Clin. Med. 3, no. 3: 747-762.

J. Clin. Med. EISSN 2077-0383 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert