Abstract：
The introduction of genomic testing into prenatal care has come at a rapid pace and has been met with significant clinical and ethical challenges, specifically when dealing with incidental findings. We present the case of a couple in their first pregnancy who were referred to our institution with isolated fetal cataracts on morphology scan. After an unremarkable infectious disease workup and microarray on an amniocentesis sample, the couple opted for fetal whole-exome sequencing to investigate the cataracts further. This investigation did not find any cause for the cataracts but yielded an incidental finding of a de novo pathogenic variant in the SCN1A gene unrelated to the cataracts. Pathogenic variants in the SCN1A gene are strongly associated with severe myoclonic epilepsy of infancy, or Dravet syndrome. After extensive genetic counseling, the couple decided to terminate the pregnancy at 28 weeks\' gestation based on this finding. This case highlights some of the important clinical and ethical considerations in prenatal genetic diagnosis, particularly in the group of patients in which there is no phenotypic evidence in-utero of the incidental finding. The case demonstrates the value of frameworks and guidelines to guide management decisions for both clinicians and patients.
摘要：
将基因组检测引入产前护理的步伐很快，并遇到了重大的临床和道德挑战，特别是在处理偶然发现时。我们介绍了一对夫妇在第一次怀孕时被转诊到我们机构的情况，他们在形态扫描中发现了孤立的胎儿白内障。在羊膜穿刺术样本上进行了不明显的传染病检查和微阵列检查后，这对夫妇选择了胎儿全外显子组测序来进一步研究白内障。这项研究没有发现白内障的任何原因，但偶然发现了与白内障无关的SCN1A基因中的从头致病变异。SCN1A基因的致病变异与婴儿期的严重肌阵挛性癫痫密切相关。或者Dravet综合征.经过广泛的遗传咨询，根据这一发现，这对夫妇决定在妊娠28周终止妊娠。这个案例突出了一些重要的临床和伦理考虑在产前基因诊断,特别是在子宫内没有偶然发现的表型证据的患者组中。该案例证明了指导临床医生和患者管理决策的框架和指南的价值。
