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

received and to make critical decisions regarding their pregnancies.

"Toxic knowledge." The women noted that in many cases the array results constituted "toxic knowledge" that they, in retrospect, wish they hadn't learned, because it negatively impacted their pregnancy, birth, and postnatal experiences. As Bernhardt describes it, "They watch their babies like hawks, always waiting for the other shoe to drop."

According to Bernhardt, chromosomal microarrays pose the same ambiguities after birth as prenatally. The difference is that postnatal testing is done because the child already exhibits an unexplained abnormality, and physicians hope the test can pinpoint its cause. "But when you find [an abnormality] in a fetus it puts the woman and couple into a tailspin because they have no clue what to expect," she says. "And the couple is immediately faced with whether or not to terminate the pregnancy."

The take-home message, Bernhardt says, is that genetic counselors must be prepared to spend more time with parents to help them explore their reasons for wanting microarray testing. Counselors also need to emphasize to parents the potentially ambiguous nature of the microarray results, how to consider potential responses, and how to make the best decisions they can based on both available scientific data and the clients' beliefs.

The study, "Women's experiences receiving abnormal prenatal chromosomal microarray testing results," was published online September 6 in the journal Genetics in Medicine. Additional authors include Penn researcher Danielle Soucier; as well as Karen Hanson, Melissa Savage, and Ronald Wapner from Columbia University College of Physicians and Surgeons; and Laird Jackson, Drexel University College of Medicine.


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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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