Jennifer L Cohen, Michael Duyzend, Sophia M Adelson, Julie Yeo, Mark Fleming, Rebecca Ganetzky, Rebecca Hale, Deborah M Mitchell, Sarah U Morton, Rebecca Reimers, Amy Roberts, Alanna Strong, Weizhen Tan, Jay R Thiagarajah, Melissa A Walker, Robert C Green, Nina B Gold
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引用次数: 0
摘要
使用基因组测序(GS)产前诊断胎儿超声异常在过去的十年里有了巨大的增长。胎儿GS也为鉴定与胎儿表型无关但可能与胎儿和新生儿健康相关的偶然基因组变异提供了机会。目前还没有关于报告胎儿GS意外发现的指南。在美国,成人和儿童的GS建议包括一份“次要发现”基因清单(ACMG SF v.3.2),这些基因与疾病有关,监测或治疗可以降低发病率和死亡率。ACMG SF v.3.2上的基因主要导致成人发病的疾病。重要的是,许多胎儿和婴儿发病的遗传性疾病也是可以治疗的。一个建议的解决方案是创建一个“可治疗的胎儿发现清单”,它可以提供给接受胎儿GS的孕妇,或者最终作为一个独立的无细胞胎儿DNA筛选测试。在这篇综合综述中,我们提出了一个可治疗的胎儿发现列表的标准,然后通过临床可用的或新出现的胎儿干预来识别遗传性疾病,以及那些在出生后第一周进行临床检测和干预可能导致改善结果的疾病。最后,我们综合了一份可治疗的胎儿发现清单的潜在益处、局限性和风险。
Advancing precision care in pregnancy through a treatable fetal findings list.
The use of genomic sequencing (GS) for prenatal diagnosis of fetuses with sonographic abnormalities has grown tremendously over the past decade. Fetal GS also offers an opportunity to identify incidental genomic variants that are unrelated to the fetal phenotype but may be relevant to fetal and newborn health. There are currently no guidelines for reporting incidental findings from fetal GS. In the United States, GS for adults and children is recommended to include a list of "secondary findings" genes (ACMG SF v.3.2) that are associated with disorders for which surveillance or treatment can reduce morbidity and mortality. The genes on ACMG SF v.3.2 predominantly cause adult-onset disorders. Importantly, many genetic disorders with fetal and infantile onset are treatable as well. A proposed solution is to create a "treatable fetal findings list," which can be offered to pregnant individuals undergoing fetal GS or, eventually, as a standalone cell-free fetal DNA screening test. In this integrative review, we propose criteria for a treatable fetal findings list, then identify genetic disorders with clinically available or emerging fetal interventions and those for which clinical detection and intervention in the first week of life might lead to improved outcomes. Finally, we synthesize the potential benefits, limitations, and risks of a treatable fetal findings list.
期刊介绍:
The American Journal of Human Genetics (AJHG) is a monthly journal published by Cell Press, chosen by The American Society of Human Genetics (ASHG) as its premier publication starting from January 2008. AJHG represents Cell Press's first society-owned journal, and both ASHG and Cell Press anticipate significant synergies between AJHG content and that of other Cell Press titles.