Micke Kestutis C, Elfman Hannah M, Fantauzzo Katherine A, McGrath Patrick S, Clouthier David E, McCandless Shawn E, Larson Austin, Putra Manesha, Cuneo Bettina F, Reynolds Regina M, Zaretsky Michael V
Colorado Fetal Care Center, Children's Hospital Colorado, Aurora, Colorado, USA.
Department of Obstetrics and Gynecology, University of Colorado, Aurora, Colorado, USA.
Prenat Diagn. 2023 Apr;43(4):544-552. doi: 10.1002/pd.6332. Epub 2023 Feb 19.
Whole exome sequencing (WES) has increasingly become integrated into prenatal care and genetic testing pathways. Current studies of prenatal WES have focused on diagnostic yield. The possibility of obtaining a variant of uncertain significance and lack of provider expertise are frequently described as common barriers to clinical integration of prenatal WES. We describe the implementation and workflow for a multidisciplinary approach to effectively integrate prenatal WES into maternal-fetal care to overcome these barriers.
A multidisciplinary team reviews and approves potential cases for WES. This team reviews WES results, reclassifying variants as appropriate and provides recommendations for postnatal care. A detailed description of this workflow is provided, and a case example is included to demonstrate effectiveness of this approach. Our team has approved 62 cases for WES with 45 patients ultimately pursuing WES. We have achieved a diagnostic yield of 40% and the multidisciplinary team has played a role in variant interpretation in 50% of the reported variants of uncertain significance.
This approach facilitates communication between prenatal and postnatal care teams and provides accurate interpretation and recommendations for identified fetal variants. This model can be replicated to ensure appropriate patient care and effective integration of novel genomic technologies into prenatal settings.
全外显子组测序（WES）已越来越多地融入产前护理和基因检测流程。目前关于产前WES的研究主要集中在诊断率上。获得意义不明确的变异以及缺乏医疗服务提供者专业知识的可能性，常被描述为产前WES临床应用的常见障碍。我们描述了一种多学科方法的实施和工作流程，以有效地将产前WES融入母婴护理，克服这些障碍。
一个多学科团队对WES的潜在病例进行审查和批准。该团队审查WES结果，对变异进行适当重新分类，并为产后护理提供建议。本文提供了该工作流程的详细描述，并包含一个案例以证明该方法的有效性。我们的团队已批准62例进行WES，最终有45名患者接受了WES。我们实现了40%的诊断率，并且多学科团队在50%的意义不明确的已报告变异的解读中发挥了作用。
这种方法促进了产前和产后护理团队之间的沟通，并为已识别的胎儿变异提供了准确的解读和建议。该模式可以复制，以确保为患者提供适当的护理，并将新的基因组技术有效地融入产前环境。
