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2014 ; 3
(3
): 1018-32
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Counseling Challenges with Variants of Uncertain Significance and Incidental
Findings in Prenatal Genetic Screening and Diagnosis
#MMPMID26237491
Westerfield L
; Darilek S
; van den Veyver IB
J Clin Med
2014[Sep]; 3
(3
): 1018-32
PMID26237491
show ga
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.