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不确定意义变异对产前染色体微阵列检测后父母对子女看法的影响。

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

机构信息

New York State Psychiatric Institute, New York, NY, USA.

Columbia University, New York, NY, USA.

出版信息

Prenat Diagn. 2018 Sep;38(10):740-747. doi: 10.1002/pd.5323. Epub 2018 Jul 24.

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.

摘要

目的

人们对接受产前染色体微阵列(CMA)结果,尤其是意义不明的变异(VUS)可能带来的危害存在担忧。本研究旨在探讨基因组检测结果的反馈对父母幸福感和儿童发展感知的影响。

方法

对 83 名接受产前染色体微阵列检测的儿童的父母(n=138)进行问卷调查,评估其对儿童发展的感知、亲子依恋、父母情绪、育儿能力、婚姻满意度、对检测决策的满意度以及对遗传学的态度。在 12 个月和/或 36 个月时,将接受正常/可能良性结果和 VUS 结果的父母的反应进行比较。

结果

与正常/可能良性结果相比,VUS 结果组的父母在 12 个月时(β=-1.65,P=.04)而非 36 个月时(P=.43),在 BITSEA 量表上对孩子的能力评价较低。父母情绪、婚姻满意度或育儿能力无差异。在 36 个月时,VUS 组的父母对接受基因检测的决定的满意度较低(β=1.51,P=.02)。

结论

染色体微阵列 VUS 结果对父母的幸福感和儿童发展感知的影响有限。然而,初始时对孩子能力的感知下降以及后来对基因组检测的不满表明,需要协助父母应对不确定的结果。

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