Next Article in Journal / Special Issue
Carrier Screening: Past, Present, and Future
Previous Article in Journal
Potential and Challenges of Induced Pluripotent Stem Cells in Liver Diseases Treatment
Previous Article in Special Issue
Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies
Article Menu

Export Article

Open AccessReview
J. Clin. Med. 2014, 3(3), 1018-1032; doi:10.3390/jcm3031018

Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis

1
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
2
Texas Children's Pavilion for Women, Texas Children's Hospital, Houston, TX 77030, USA
3
Department of Obstetrics and Gynecology, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
These authors contributed equally to this work.
*
Author to whom correspondence should be addressed.
Received: 19 May 2014 / Revised: 18 June 2014 / Accepted: 22 July 2014 / Published: 12 September 2014
(This article belongs to the Special Issue Prenatal Genetic Screening and Diagnosis-Part 2)
View Full-Text   |   Download PDF [667 KB, uploaded 12 September 2014]

Abstract

Prenatal genetic screening and testing provides prospective parents information about the health of their fetus. It is offered to find or address an increased risk for chromosomal abnormalities or other genetic conditions in the fetus or to identify the cause of fetal structural abnormalities detected by prenatal imaging. Genome-wide tests, such as the already widely-used chromosomal microarray analysis and emerging diagnostic whole exome and whole genome sequencing, have improved the ability to detect clinically significant findings, but have also increased the chance of detecting incidental findings and variants of uncertain significance. There is an extensive ongoing discussion about optimal strategies for diagnostic laboratories to report such findings and for providers to communicate them with patients. While consensus opinions and guidelines are beginning to appear, they often exclude the prenatal setting, due to its unique set of challenging considerations. These include more limited knowledge of the impact of genetic variants when prospectively detected in an ongoing pregnancy, the absence or limitations of detecting clinically recognizable phenotypes at the time of testing and the different decision-making processes that will ensue from testing. In this review, we examine these challenges within the medical ethical framework unique to prenatal care. View Full-Text
Keywords: prenatal; genetic testing; incidental findings; variants of uncertain significance; genetic counseling prenatal; genetic testing; incidental findings; variants of uncertain significance; genetic counseling
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

Scifeed alert for new publications

Never miss any articles matching your research from any publisher
  • Get alerts for new papers matching your research
  • Find out the new papers from selected authors
  • Updated daily for 49'000+ journals and 6000+ publishers
  • Define your Scifeed now

SciFeed Share & Cite This Article

MDPI and ACS Style

Westerfield, L.; Darilek, S.; van den Veyver, I.B. Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis. J. Clin. Med. 2014, 3, 1018-1032.

Show more citation formats Show less citations formats

Related Articles

Article Metrics

Article Access Statistics

1

Comments

[Return to top]
J. Clin. Med. EISSN 2077-0383 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top