Literature DB >> 29956345

Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing.

Preeya Desai1, Hannah Haber2, Jessica Bulafka3, Amita Russell4, Rebecca Clifton5, Julia Zachary5, Seonjoo Lee6,7, Tianshu Feng6, Ronald Wapner4, Catherine Monk1,4,8, Wendy K Chung3,9.   

Abstract

OBJECTIVE: There are concerns regarding the potential harms in receipt of prenatal chromosome microarray (CMA) results, particularly variants of uncertain significance (VUS). We examined the influence that the return of genomic results had on parental well-being and perceptions of children's development.
METHODS: Parents (n = 138) of 83 children who underwent prenatal chromosomal microarray testing completed questionnaires assessing perception of children's development, parent-child attachment, parental mood, parenting competence, martial satisfaction, satisfaction with the decision to undergo testing, and attitudes about genetics at age 12 and/or 36 months. Responses were compared between parents who received normal/likely benign results and VUS results.
RESULTS: Compared to normal/likely benign results, parents who received VUS results rated their child as less competent on the BITSEA scale at 12 (β = -1.65, P = .04) though not 36 months (P = .43). There were no differences in parent mood, marital satisfaction, or parenting competence. At 36 months, parents in the VUS group reported less satisfaction with their decision to undergo genetic testing (β = 1.51, P = .02).
CONCLUSION: Chromosome microarray VUS results have limited impact on parental well-being and perception of children's development. However, the initial diminished perception of child competency and later dissatisfaction with genomic testing indicate the need to assist parents in coping with ambiguous results.
© 2018 John Wiley & Sons, Ltd.

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Year:  2018        PMID: 29956345      PMCID: PMC6312184          DOI: 10.1002/pd.5323

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  40 in total

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4.  Parents' Perspectives on Variants of Uncertain Significance from Chromosome Microarray Analysis.

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8.  An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

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Journal:  Genet Med       Date:  2011-09       Impact factor: 8.822

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Journal:  BMC Womens Health       Date:  2011-07-12       Impact factor: 2.809

10.  A copy number variation morbidity map of developmental delay.

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Journal:  Nat Genet       Date:  2011-08-14       Impact factor: 38.330

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5.  C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis.

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Review 6.  Utility of Genetic Testing from the Perspective of Parents/Caregivers: A Scoping Review.

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8.  Parental experiences of uncertainty following an abnormal fetal anomaly scan: Insights using Han's taxonomy of uncertainty.

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9.  Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: An international cross-sectional study with healthcare professionals.

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