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

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 (ß = -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 (ß = 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.

"Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results.

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.