Women's experiences receiving abnormal prenatal chromosomal microarray testing results

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


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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Chromosome Aberrations*
  • Chromosome Disorders / diagnosis
  • Chromosome Disorders / genetics
  • Chromosome Disorders / psychology
  • Female
  • Genetic Counseling / methods
  • Genetic Counseling / psychology
  • Genetic Testing / methods*
  • Humans
  • Pilot Projects
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Prenatal Diagnosis / psychology*
  • Truth Disclosure