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Documenting women's experiences with chromosome abnormalities found in new prenatal test
Date:9/21/2012

d developmental delays or congenital defects. However, the technique is also being applied prenatally. The problem, though, unlike some genetic changes that definitely lead to disease, is that the significance of the changes DNA microarrays identify (called copy-number variants) isn't always clear. Nor is it necessarily obvious what actions parents, doctors, and genetic counselors should take in light of the findings.

Bernhardt set out to document the experiences of women receiving such information. Of the 4,450 women enrolled in the Columbia University trial, Bernhardt and her team selected 54 who had received chromosome microarray results that showed abnormalities in the previous six months. Of those, they interviewed 23 regarding the subjects' recollections of their informed-consent discussions, genetic counseling, test results, and follow-up.

The team identified five "key elements" that describe the women's experiences:

"An offer too good to pass up." Many of the women accepted the offer for testing because it was offered at no cost and posed no additional risk to them or their unborn child. Yet they did so without necessarily considering the potential significance and ambiguity of the information they could receive.

"Blindsided by the results." Women reported being caught off-guard by the microarray data, which generally arrived one to two weeks after preliminary (and seemingly normal) karyotype information.

"Uncertainty and unquantifiable risks." Women had difficulty making sense of the test results, as copy-number variants are often of either uncertain clinical significance, or produce a wide array of possible developmental outcomes. As a result, the women's time-critical and emotionally charged decisions about whether to terminate a pregnancy, for instance, were complicated.

"Need for support." The women reported needing support from counselors, spouses or partners to digest and consider the information they had
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Contact: Karen Kreeger
karen.kreeger@uphs.upenn.edu
215-349-5658
University of Pennsylvania School of Medicine
Source:Eurekalert

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