Purpose

To evaluate associations between prenatal trio exome sequencing (trio-ES) and psychological outcomes among women with an anomalous pregnancy.

Methods

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.

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).

Conclusion

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.

中文翻译：

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前瞻性队列中胎儿基因诊断产前外显子组测序对产妇心理结果和决策冲突的影响

目的

评估产前三重外显子组测序 (trio-ES) 与异常妊娠女性心理结局之间的关联。

方法

Trio-ES 研究纳入了胎儿主要异常但微阵列正常的患者。女性在两个时间点完成了自我报告的测量和自由回答访谈：前 (1) 和后 (2) 排序。将测序前的反应与测序后的反应进行比较；测序后反应按接受 trio-ES 结果的女性进行分层，这些结果可能解释胎儿发现、次要发现（医学上可操作的或具有相同隐性疾病的杂合变体的夫妇）或阴性结果。

结果

注册了一百一十五个三人组。其中，41/115 (35.7%) 收到了 trio-ES 的结果，其中 36 (31.3%) 收到了可以解释胎儿表型的结果。与收到阴性结果的女性相比，这些女性在测序后有更大的痛苦，包括普遍的痛苦 ( p  = 0.03) 和测试相关的痛苦 ( p  = 0.2)；他们对结果的心理适应也更差 ( p  = 0.001)。基因组知识从测序前到测序后没有变化 ( p  = 0.51)。

结论

与未接受 trio-ES 结果的女性相比，女性在接受 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。