Journal article
Women's experiences receiving abnormal prenatal chromosomal microarray testing results
Genetics in medicine, v 15(2), pp 139-145
01 Feb 2013
PMCID: PMC3877835
PMID: 22955112
Featured in Collection : UN Sustainable Development Goals @ Drexel
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. Genet Med 2013:15(2):139-145
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Details
- Title
- Women's experiences receiving abnormal prenatal chromosomal microarray testing results
- Creators
- Barbara A. Bernhardt - University of PennsylvaniaDanielle Soucier - Applied Genetic TechnologiesKaren Hanson - Columbia UniversityMelissa S. Savage - Columbia UniversityLaird Jackson - Drexel UniversityRonald J. Wapner - Columbia University
- Publication Details
- Genetics in medicine, v 15(2), pp 139-145
- Publisher
- Springer Nature
- Number of pages
- 7
- Grant note
- U01HG006546 / NATIONAL HUMAN GENOME RESEARCH INSTITUTE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) R01HD055651-01; R01HD055651-0351 / National Institute of Child Health and Development, National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) P50HG004487 / National Human Genome Research Institute, National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Human Genome Research Institute (NHGRI) U01HD055651 / EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
- Resource Type
- Journal article
- Language
- English
- Web of Science ID
- WOS:000314794900007
- Scopus ID
- 2-s2.0-84873547792
- Other Identifier
- 991019350580104721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Genetics & Heredity