Jeanne Médéric, Chung Wendy K
Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Semin Perinatol. 2025 Apr;49(3):152058. doi: 10.1016/j.semperi.2025.152058. Epub 2025 May 21.
Prenatal genomic sequencing is now routine for fetal structural anomalies. Prenatal genomic sequencing results inform medical decision-making and guide pre and postnatal management by identifying associated clinical features, allowing planning, coordination, and timely treatment and avoiding unnecessary additional diagnostic tests. However, clinical details are limited in the prenatal setting making diagnostic certainty more difficult. This leads to more frequent variants of uncertain significance (VUS) and accompanying questions of if and when to report VUS. We review current practices and recommendations on reporting VUS and include perspectives of parents. However, there are no clear recommendations for reporting uncertain prenatal results. With greater access to prenatal phenotypes from retrospective and prospective prenatal cases and postnatal cases with the same recurrent variant, there should be greater certainty of results and lower frequency of VUS over time.
产前基因组测序现已成为胎儿结构异常的常规检查。产前基因组测序结果通过识别相关临床特征，为医疗决策提供信息，并指导产前和产后管理，从而实现规划、协调和及时治疗，避免不必要的额外诊断测试。然而，产前环境中的临床细节有限，使得诊断的确定性更加困难。这导致意义不明确的变异（VUS）出现得更为频繁，以及关于是否报告和何时报告VUS的相关问题。我们回顾了目前关于报告VUS的实践和建议，并纳入了父母的观点。然而，对于报告不确定的产前结果尚无明确建议。随着从回顾性和前瞻性产前病例以及具有相同复发性变异的产后病例中获取更多产前表型，随着时间的推移，结果的确定性应会更高，VUS的出现频率应会更低。
