Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult-onset findings from chromosomal-microarray-analysis

Prenat Diagn. 2021 Feb;41(3):376-383. doi: 10.1002/pd.5856. Epub 2020 Nov 12.

Abstract

Background: Chromosomal-microarray-analysis (CMA) can identify variants of uncertain clinical significance, susceptibility-loci for neurodevelopmental conditions, and risk for adult-onset conditions. We explored choices made by couples undergoing prenatal CMA, their understanding of these findings, reasons for and against receiving them, and whether they believe parents or professionals should decide which are disclosed.

Methods: Semi-structured interviews were conducted with women (n = 27) or their partners (n = 15) during the week following prenatal CMA testing and analyzed using grounded theory.

Results: Over half the interviewees (55%) recalled at least two of the three types of CMA results they chose whether to receive. Sixty-four percent found the choice simple, whereas 36% found it difficult. All participants could clearly explain their choices, which were based on the perceived actionability and psychological impact of the information. Sixty percent viewed their choice favorably, whereas ~21% would have preferred clinicians to decide for them. More women than men, and more decisive than indecisive participants supported parental choice.

Conclusion: Overall, expectant parents can make informed choices about which uncertain findings about their fetuses they wish to receive, and value the opportunity to tailor results to their values and wishes. Arguments presented provide the basis for a decision-aid tool for expecting parents.

MeSH terms

  • Adult
  • Chromosome Aberrations*
  • Female
  • Genetic Counseling / psychology*
  • Genetic Counseling / standards
  • Genetic Counseling / statistics & numerical data
  • Genetic Testing / methods
  • Genetic Testing / statistics & numerical data
  • Humans
  • Israel / epidemiology
  • Male
  • Precision Medicine / methods
  • Precision Medicine / statistics & numerical data
  • Pregnancy
  • Sexual Partners / psychology*
  • Tissue Array Analysis / methods
  • Tissue Array Analysis / standards
  • Tissue Array Analysis / statistics & numerical data
  • Uncertainty