Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?
Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?
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描述进行三外显子组测序（外显子组测序（ES））的复发性异常妊娠患者与受影响患者相比的心理结局。我们分析了来自一个前瞻性ES队列的数据，该队列招募了具有重大胎儿异常和正常微阵列的患者。参与者在ES之前和之后完成了经验证的量表。我们（1）比较了多胎异常妊娠患者与单胎异常妊娠患者的反应，（2）进行线性回归以检查多胎异常妊娠与ES后结构之间的相关性。在166个trios中，61个（37%）从ES获得结果。40例（24%）有一次以上受影响的妊娠，其中45%的妊娠结果解释了胎儿表型。所有参与者都有临床显著的预排序的普遍心理困扰。对于93名完成ES后调查的患者，多胎妊娠受影响的患者的心理适应评分较高，但与测试相关的痛苦评分较差（9.3（6.2）vs 7.1（5.6），p = 0.12）和（14.3（1.5）vs 15.4（1.4），p = 0.01）。在线性回归模型中，在调整临床相关协变量后，ES后结构无显著差异。所有个体在ES前都经历了显著的普遍心理困扰，扩展了我们对妊娠史如何影响父母测序结果的认识。
To describe psychological outcomes among people with recurrent anomalous pregnancies pursuing trio-exome sequencing (exome sequencing (ES)) compared to those with one affected. We analyzed data from a prospective ES cohort, enrolling patients with major fetal anomaly and normal microarray. Participants completed validated scales before and after ES. We (1) compared responses of those with multiple anomalous pregnancies to those with one affected and (2) conducted linear regression to examine associations between multiple affected pregnancies and post-ES constructs. Of 166 trios, 61 (37%) received results from ES. Forty (24%) had more than one affected pregnancy and 45% of those received a result explaining the fetal phenotype. All participants had clinically significant presequencing generalized psychological distress. For the 93 who completed the post-ES surveys, those with multiple affected pregnancies had higher psychological adaptation scores but worse test related distress scores (9.3 (6.2) versus 7.1(5.6), p = 0.12) and (14.3 (1.5) versus 15.4 (1.4), p = 0.01). In linear regression models, there were no significant differences in post-ES constructs after adjusting for clinically relevant covariates. All individuals experienced significant generalized psychological distress in the pre-ES period, extending our knowledge of how pregnancy history contributes to parental sequencing outcomes.
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影响因子：
2.8
作者：
Thomann S;Hahn S;Bauer S;Richter D;Zwakhalen S
通讯作者：
Zwakhalen S
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Chitty LS
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168.9
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Petrovski, Slave;Aggarwal, Vimla;Wapner, Ronald J.
通讯作者：
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影响因子：
3.6
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Brehaut, JC;O'Connor, AM;Feldman-Stewart, D
通讯作者：
Feldman-Stewart, D