Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing.
Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing.
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DOI：
10.1002/pd.5323
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发表时间：
2018-09
影响因子：
3
通讯作者：
Chung WK
中科院分区：
文献类型：
--
作者：
Desai P;Haber H;Bulafka J;Russell A;Clifton R;Zachary J;Lee S;Feng T;Wapner R;Monk C;Chung WK
有人担心收到产前染色体微阵列（CMA）结果的潜在危害，特别是意义不确定的变异（VUS）。我们研究了基因组结果的回报对父母幸福感和对儿童发展的看法的影响。父母（n=138）的83名儿童进行产前染色体微阵列检测完成了问卷调查，评估儿童的发展，亲子依恋，父母的情绪，养育能力，军事满意度，满意度的决定进行测试，并在12岁和/或36个月的遗传学的态度的看法。反应之间的父母谁收到正常/可能是良性的结果和VUS结果进行了比较。与正常/可能的良性结果相比，接受VUS结果的父母在12个月时（β=-1.65，p=0.04）而不是36个月时（p=0.43）将他们的孩子评为BITSEA量表上的能力较差。在父母情绪、婚姻满意度或育儿能力方面没有差异。在36个月时，VUS组的父母对他们决定进行基因检测的满意度较低（β=1.51，p=0.02）。CMA VUS结果对父母的福祉和对儿童发展的看法影响有限。然而，最初减少的儿童能力的看法和后来的不满与基因组测试表明，需要帮助父母在应对模棱两可的结果。
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. 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. 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=0.04) though not 36 months (p=0.43). 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=0.02). CMA 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.
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影响因子：
1.9
作者：
Richards AA;Garg V
通讯作者：
Garg V
影响因子：
7.1
作者：
Kowalcek, I;M端hlhoff, A;Gembruch, U
通讯作者：
Gembruch, U
影响因子：
30.8
作者：
Cooper, Gregory M.;Coe, Bradley P.;Eichler, Evan E.
通讯作者：
Eichler, Evan E.
DOI：
10.1097/gim.0b013e31822c79f9
发表时间：
2011-09
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Kaminsky EB;Kaul V;Paschall J;Church DM;Bunke B;Kunig D;Moreno-De-Luca D;Moreno-De-Luca A;Mulle JG;Warren ST;Richard G;Compton JG;Fuller AE;Gliem TJ;Huang S;Collinson MN;Beal SJ;Ackley T;Pickering DL;Golden DM;Aston E;Whitby H;Shetty S;Rossi MR;Rudd MK;South ST;Brothman AR;Sanger WG;Iyer RK;Crolla JA;Thorland EC;Aradhya S;Ledbetter DH;Martin CL
通讯作者：
Martin CL
影响因子：
8
作者：
Briggs-Gowan, Margaret J.;Carter, Alice S.
通讯作者：
Carter, Alice S.