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“Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

This study aims to explore how couples’ understanding of the nature and consequences of positive prenatal chromosomal microarray analysis (CMA) results impacts decision-making and concern about pregnancy. We interviewed 28 women and 12 male partners after receiving positive results and analyzed the transcripts to assess their understanding and level of concern about the expected clinical implications of results. Participant descriptions were compared to the original laboratory interpretation. When diagnosed prenatally, couples’ understanding of the nature and consequences of copy number variants (CNVs) impacts decision-making and concern. Findings suggest women, but less so partners, generally understand the nature and clinical implications of prenatal CMA results. Couples feel reassured, perhaps sometimes falsely so, when a CNV is inherited from a “normal” parent and experience considerable uncertainty when a CNV is de novo, frequently precipitating a search for additional information and guidance. Five factors influenced participants’ concern including: the pattern of inheritance, type of possible phenotypic involvement, perceived manageability of outcomes, availability and strength of evidence about outcomes associated with the CNV, and provider messages about continuing the pregnancy. A good understanding of results is vital as couples decide whether or not to continue with their pregnancy and seek additional information to assist in pregnancy decision-making.

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Acknowledgments

This work was supported by funding from the National Institute of Child Health and Development, National Institutes of Health (UO1-HD-055651). There was no additional involvement from funding sources.

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Authors and Affiliations

  1. Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

    Sarah A. Walser & Barbara A. Bernhardt

  2. School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA, USA

    Allison Werner-Lin

  3. Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA

    Amita Russell & Ronald J. Wapner

  4. Translational Medicine and Human Genetics, University of Pennsylvania Perelman School of Medicine, 3400 Spruce St. Silverstein 5, Philadelphia, PA, 19104, USA

    Sarah A. Walser

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  1. Sarah A. Walser
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  2. Allison Werner-Lin
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  4. Ronald J. Wapner
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  5. Barbara A. Bernhardt
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Correspondence to Sarah A. Walser.

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Conflict of Interest

Sarah Walser, Allison Werner-Lin, Amita Russell, Ronald Wapner, and Barbara Bernhardt declare they have no conflict of interest.

Human Studies and Informed Consent

All procedures performed as part of the work for this publication were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all patients for being included in the study.

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No animal studies were carried out by the authors for this article.

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Walser, S.A., Werner-Lin, A., Russell, A. et al. “Something Extra on Chromosome 5”: Parents’ Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results. J Genet Counsel 25, 1116–1126 (2016). https://doi.org/10.1007/s10897-016-9943-z

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  • DOI: https://doi.org/10.1007/s10897-016-9943-z

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