Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort.
Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort.
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DOI：
10.1038/s41436-020-01025-5
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发表时间：
2021-04
期刊：
影响因子：
--
通讯作者：
Vora NL
中科院分区：
文献类型：
--
作者：
Talati AN;Gilmore KL;Hardisty EE;Lyerly AD;Rini C;Vora NL
目的：评估异常妊娠妇女产前三外显子测序(TRIO-ES)与心理结局的关系。TRIO-ES研究招募了患有严重胎儿畸形和基因芯片正常的患者。女性在两个时间点完成自我报告测量和自由回答访谈：前(1)和后(2)测序。测序前的反应与测序后的反应进行比较；测序后的反应按接受了可能解释胎儿发现、二次发现(医学上可操作的或具有相同隐性疾病杂合变异的夫妇)或阴性结果的TRIO-ES结果的女性进行分层。有115个三人组报名参加。其中41/115(35.7%)获得了TRIO-ES结果，其中36例(31.3%)获得了可能解释胎儿表型的结果。与接受阴性结果的女性相比，这些女性有更大的排序后痛苦，包括全身性痛苦(p=0.03)和与测试相关的痛苦(p=0.2)；她们对结果的心理适应也更差(p=0.001)。测序前和测序后的基因组知识没有变化(p=0.51)。与没有收到结果的女性相比，女性在收到Trio-ES结果后表现出更多的痛苦，这表明接受结果的女性可能需要额外的支持或咨询，以告知当前和未来的生育决定。
To evaluate associations between prenatal trio exome sequencing (trio-ES) and psychological outcomes among women with an anomalous pregnancy. Trio-ES study enrolling patients with major fetal anomaly and normal microarray. Women completed self-reported measures and free response interviews at two timepoints: pre- (1) and post- (2) sequencing. Pre-sequencing responses were compared with post-sequencing responses; post-sequencing responses were stratified by women who received trio-ES results that may explain fetal findings, secondary findings (medically actionable or couples with heterozygous variants for the same recessive disorder), or negative results. One hundred fifteen trios were enrolled. Of those, 41/115 (35.7%) received results from trio-ES, including 36 (31.3%) who received results that may explain the fetal phenotype. These women had greater post-sequencing distress compared with women who received negative results, including generalized distress (p = 0.03) and test-related distress (p = 0.2); they also had worse psychological adaptation to results (p = 0.001). Genomic knowledge did not change from pre- to post-sequencing (p = 0.51). Women show more distress after receiving trio-ES results compared with those who do not, suggesting that women receiving results may need additional support or counseling to inform current and future reproductive decisions.
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影响因子：
3.5
作者：
Kaphingst KA;Ivanovich J;Biesecker BB;Dresser R;Seo J;Dressler LG;Goodfellow PJ;Goodman MS
通讯作者：
Goodman MS
影响因子：
--
作者：
Langer MM;Roche MI;Brewer NT;Berg JS;Khan CM;Leos C;Moore E;Brown M;Rini C
通讯作者：
Rini C
影响因子：
3
作者：
Best S;Wou K;Vora N;Van der Veyver IB;Wapner R;Chitty LS
通讯作者：
Chitty LS
影响因子：
1.9
作者：
Halverson, Colin M. E.;Clift, Kristin E.;McCormick, Jennifer B.
通讯作者：
McCormick, Jennifer B.
影响因子：
168.9
作者：
Petrovski, Slave;Aggarwal, Vimla;Wapner, Ronald J.
通讯作者：
Wapner, Ronald J.