Women’s experiences receiving abnormal prenatal chromosomal microarray testing results

Author: Bernhardt, B.A.; Soucier, D.; Hanson, K.; Savage, M.S.; Jackson, L.; Wapner, R.J.


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.

Subject headings: Adult; Chromosome Aberrations; Chromosome Disorders–diagnosis, genetics, psychology; Female; Genetic Counseling–methods, psychology; Genetic Testing–methods; Humans; Pilot Projects; Pregnancy; Prenatal Diagnosis–methods, psychology; Truth Disclosure

Publication year: 2013

Journal or book title: Genetics in Medicine : Official Journal of the American College of Medical Genetics

Volume: 15

Issue: 2

Pages: 139-145

Find the full text : https://www.ncbi.nlm.nih.gov/pmc/articles/pmc3877835/

Find more like this one (cited by): https://scholar.google.com/scholar?cites=17157276600267886581&as_sdt=1000005&sciodt=0,16&hl=en

Type: Journal Article

Serial number: 560