Next Article in Journal
Gut-Brain Endocrine Axes in Weight Regulation and Obesity Pharmacotherapy
Next Article in Special Issue
Limitations of Aneuploidy and Anomaly Detection in the Obese Patient
Previous Article in Journal / Special Issue
Pregnancy Loss Following Amniocentesis or CVS Sampling—Time for a Reassessment of Risk

Exome Sequencing in Fetuses with Structural Malformations

Centre of Women's and Children's Health & School of Clinical and Experimental Medicine, College of Medicine and Dentistry, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
Fetal Medicine Centre, Birmingham Women's Foundation Trust, Edgbaston, Birmingham B15 2TT, UK
Genome Mutation and Genetic Disease Group, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
Author to whom correspondence should be addressed.
J. Clin. Med. 2014, 3(3), 747-762;
Received: 10 April 2014 / Revised: 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)
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. View Full-Text
Keywords: exome sequencing; prenatal; fetus; prenatal diagnosis exome sequencing; prenatal; fetus; prenatal diagnosis
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.

Find Other Styles

Article Access Map by Country/Region

Only visits after 24 November 2015 are recorded.
Search more from Scilit
Back to TopTop