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Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies
Open AccessReview

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
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
J. Clin. Med. 2014, 3(3), 1018-1032; https://doi.org/10.3390/jcm3031018
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)
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
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.

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