From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care
From diagnostic yield to clinical impact: a pilot study on the implementation of prenatal exome sequencing in routine care
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DOI：
10.1038/s41436-019-0499-9
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发表时间：
2019-10-01
影响因子：
8.8
通讯作者：
Santen, Gijs W. E.
中科院分区：
文献类型：
--
作者：
de Koning, Maayke A.;Haak, Monique C.;Santen, Gijs W. E.
目的：外显子组测序（ES）是一种诊断产后遗传疾病的有效工具。最近的研究表明，它可能有相当大的诊断率胎儿结构异常超声。我们报告了在常规护理中实施产前ES （pES）对正在进行的妊娠的临床影响。方法：我们回顾性分析前22例因胎儿超声检查出现一种或多种结构异常而接受pES治疗的患者pES对妊娠结局和产前或围产期管理的影响。结果：2例患者经ES咨询后，经染色体微阵列分析确诊。其余20例分为三组：(1)辅助父母决策的pe (n = 12),(2)晚期终止妊娠要求的pe (n = 5),(3)指导产前或围产期管理的pe （n = 3）。pe的临床影响分别为75%(9/12),40%（2/5）和100% (3/3)，pES的总体临床影响为70%（14/20）。结论：我们表明pES的临床实施是可行的，并影响父母的决策或产前和围产期管理，支持在产前环境中进一步实施ES。
Purpose: Exome sequencing (ES) is an efficient tool to diagnose genetic disorders postnatally. Recent studies show that it may have a considerable diagnostic yield in fetuses with structural anomalies on ultrasound. We report on the clinical impact of the implementation of prenatal ES (pES) for ongoing pregnancies in routine care.Methods: We retrospectively analyzed the impact of pES on pregnancy outcome and pre-or perinatal management in the first 22 patients counseled for pES because of one or more structural anomalies on fetal ultrasound.Results: In two cases, a diagnosis was made by chromosomal microarray analysis after ES counseling. The remaining 20 cases were divided in three groups: (1) pES to aid parental decision making (n = 12), (2) pES in the context of late pregnancy termination requests (n = 5), and (3) pES to guide pre-or perinatal management (n = 3). pES had a clinical impact in 75% (9/12), 40% (2/5), and 100% (3/3) respectively, showing an overall clinical impact of pES of 70% (14/20).Conclusion: We show that clinical implementation of pES is feasible and affects parental decision making or pre- and perinatal management supporting further implementation of ES in the prenatal setting.