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

PHILADELPHIA We often hear that "knowledge is power." But, that isn't always the case, especially when the knowledge pertains to the health of an unborn child, with murky implications, at best. A new study, led by researchers from the Perelman School of Medicine at the University of Pennsylvania, begins to document this exception to the general rule.

Barbara Bernhardt, MS, CGC, a genetic counselor at the Hospital of the University of Pennsylvania, and colleagues contacted a small group of women who are participating in a larger Columbia University study investigating the use of a genetic test called a DNA microarray to identify the possibility of prenatal chromosomal abnormalities. Bernhardt is also co-director of the Penn Center for the Integration of Genetic Healthcare Technologies.

The study's goal: To document a woman's experience upon learning that her child's genetic material contained chromosomal abnormalities. The women's responses to this type of news were mostly negative, ranging from saying they "needed support" after getting the results to describing the results as "toxic knowledge," that they wish they hadn't received.

DNA microarrays represent a relatively new approach to genetic testing. Classically, chromosomal abnormalities are detected with karyotyping, which uses DNA staining and microscopy to identify such large-scale abnormalities as trisomy 21, associated with Down's syndrome. Yet the technique lacks the resolution to detect smaller yet still significant -- chromosomal changes.

That's where DNA microarrays come in. Microarrays use an array of DNA "probes" to search for matching bits of DNA from across the genome. In theory, if a piece of DNA is missing or duplicated, that change can be detected on a microarray, even if it is too small to be detected by karyotyping.

DNA microarrays are often used by physicians following birth to identify chromosomal abnormalities in children with unexplaine
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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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