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Genet Med. 2013 Feb;15(2):139-45. doi: 10.1038/gim.2012.113. Epub 2012 Sep 6.

Women's experiences receiving abnormal prenatal chromosomal microarray testing results.

Author information

1
Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Barbara.bernhardt@uphs.upenn.edu

Abstract

PURPOSE:

Genomic microarrays can detect copy-number variants not detectable by conventional cytogenetics. This technology is diffusing rapidly into prenatal settings even though the clinical implications of many copy-number variants are currently unknown. We conducted a qualitative pilot study to explore the experiences of women receiving abnormal results from prenatal microarray testing performed in a research setting.

METHODS:

Participants were a subset of women participating in a multicenter prospective study "Prenatal Cytogenetic Diagnosis by Array-based Copy Number Analysis." Telephone interviews were conducted with 23 women receiving abnormal prenatal microarray results.

RESULTS:

We found that five key elements dominated the experiences of women who had received abnormal prenatal microarray results: an offer too good to pass up, blindsided by the results, uncertainty and unquantifiable risks, need for support, and toxic knowledge.

CONCLUSION:

As prenatal microarray testing is increasingly used, uncertain findings will be common, resulting in greater need for careful pre- and posttest counseling, and more education of and resources for providers so they can adequately support the women who are undergoing testing.

PMID:
22955112
PMCID:
PMC3877835
DOI:
10.1038/gim.2012.113
[Indexed for MEDLINE]
Free PMC Article

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