胎儿结构异常的产前外显子组和基因组测序。
Prenatal exome and genome sequencing for fetal structural abnormalities.
机构信息
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill, Chapel Hill, NC.
Division of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, San Francisco, CA.
出版信息
Am J Obstet Gynecol. 2023 Feb;228(2):140-149. doi: 10.1016/j.ajog.2022.08.040. Epub 2022 Aug 24.
Abstract
As prenatal exome sequencing becomes integrated into clinical care, it is critical that providers caring for women with fetal anomalies recognize not only the benefits, but also the challenges and considerations related to this technology. This overview of prenatal sequencing includes information about indications for sequencing, methods, diagnostic yield, clinical utility, variant interpretation, ethical considerations and dilemmas, practical considerations (ie, turnaround time and cost), pre- and posttest counseling points, and psychological impact of testing on families.
摘要
随着产前外显子组测序逐渐融入临床护理，为胎儿异常的女性提供护理的医护人员不仅需要认识到这项技术的益处，还要了解其相关的挑战和注意事项，这一点至关重要。本文概述了产前测序的相关信息，包括测序的适应证、方法、诊断效能、临床实用性、变异解读、伦理问题及困境、实际问题（如检测周期和费用）、检测前后的咨询要点以及检测对家庭的心理影响。
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本文引用的文献
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International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis.国际产前诊断学会关于使用全基因组测序进行产前诊断的最新立场声明。
Prenat Diagn. 2022 May;42(6):796-803. doi: 10.1002/pd.6157.
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