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.
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.
Authors: A Novelli; F R Grati; L Ballarati; L Bernardini; D Bizzoco; L Camurri; R Casalone; L Cardarelli; P Cavalli; R Ciccone; M Clementi; L Dalprà; M Gentile; G Gelli; P Grammatico; M Malacarne; A M Nardone; V Pecile; G Simoni; O Zuffardi; D Giardino Journal: Ultrasound Obstet Gynecol Date: 2012-04 Impact factor: 7.299
Authors: Antina de Jong; Wybo J Dondorp; Merryn V E Macville; Christine E M de Die-Smulders; Jan M M van Lith; Guido M W R de Wert Journal: Hum Genet Date: 2014-02 Impact factor: 4.132
Authors: Barbara A Bernhardt; Katherine Kellom; Alexandra Barbarese; W Andrew Faucett; Ronald J Wapner Journal: J Genet Couns Date: 2014-02-27 Impact factor: 2.537
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